日本臨牀　74/増刊8　白血病学(上)

出版社： 日本臨牀社
発行日： 2016-10-20
分野： 臨床医学：一般  >  雑誌
ISSN： 00471852
雑誌名：
特集： 白血病学（上）―最新の基礎、臨床研究―
電子書籍版： 2016-10-20 （初版第1刷）
書籍・雑誌
≪全国送料無料でお届け≫
取寄せ目安：8～14営業日

16,500 円(税込)

購入する
電子書籍
章別単位での購入はできません
ブラウザ、アプリ閲覧

16,500 円(税込)

購入する

目次

  • 日本臨牀　74/増刊8　白血病学（上）

    ―目次―

    特集　白血病学（上）―最新の基礎、臨床研究―

    I　総論
    　1．造血幹細胞研究の変遷と展望
    　　　―ヒト造血幹細胞の純化と階層制の解明―
    　2．造血幹細胞ニッチ研究の変遷と展望
    　3．白血病幹細胞研究の変遷と展望
    　4．血球形態診断の変遷と展望
    　5．白血病染色体診断の変遷と将来展望
    　6．遺伝子診断の変遷と展望
    　7．化学療法の歴史と変遷
    　8．分子標的療法の変遷と展望
    　9．同種造血幹細胞移植の変遷と展望

    II　白血病の疫学と危険因子
    　1．疫学
    　2．白血病発症の危険因子
    　3．小児白血病の疫学

    III　白血病の生物学と発症機序
    　1．造血器の構造と機能
    　2．造血幹細胞の生物学
    　3．白血病の発症機序
    　4．がん化学療法の耐性機構
    　5．造血器腫瘍治療薬としてのキナーゼ阻害剤とその耐性機構

    IV　白血病・骨髄異形成症候群・骨髄増殖性腫瘍のWHO分類
    　1．WHO分類（2008年）概説
    　2．骨髄増殖性腫瘍のWHO分類
    　3．PDGFRA、PDGFRBまたはFGFR1の再構成と好酸球増加を伴う、
    　　　またはPCM1-JAK2を伴う骨髄系／リンパ系腫瘍
    　4．骨髄異形成／骨髄増殖性腫瘍
    　5．骨髄異形成症候群
    　6．急性骨髄性白血病および関連前駆細胞腫瘍
    　7．分化系統不明瞭な急性白血病
    　8．前駆型リンパ球系腫瘍
    　9．慢性リンパ性白血病
    　10．B細胞性前リンパ球性白血病

    V　白血病の予後因子
    　1．総論
    　2．各論

    VI　白血病・骨髄異形成症候群・骨髄増殖性腫瘍の
    　　症候と検査・診断
    　1．症候と検査所見：初期症状から診断へ
    　2．骨髄穿刺／骨髄生検：形態学的診断と細胞化学
    　3．フローサイトメトリー検査
    　4．白血病における染色体の標準転座と単純変異転座
    　5．染色体検査：FISHとSKY
    　6．遺伝子検査（PCR、DNAシーケンシングなど）

この書籍の参考文献

参考文献のリンクは、リンク先の都合等により正しく表示されない場合がありますので、あらかじめご了承下さい。

本参考文献は電子書籍掲載内容を元にしております。

I 総論

P.14 掲載の参考文献
1) Till JE, McCulloch EA : A direct measurement of the radiation sensitivity of normal mouse bone marrow cells. Radiat Res 14 : 213-222, 1961.
PubMed
2) Larochelle A, et al : Identification of primitive human hematopoietic cells capable of repopulating NOD/SCID mouse bone marrow : implication for gene therapy. Nat Med 2 : 1329-1337, 1996.
PubMed
3) Wang J, et al : SCID-repopulating cell activity of human cord blood-derived CD34-cells assured by intra-bone marrow injection. Blood 101 : 2924-2931, 2003.
PubMed
4) Goodell MA, et al : Dye efflux studies suggest that hematopoietic stem cells expressing low or undetectable levels of CD34 antigen exist in multiple species. Nat Med 3 : 1337-1345, 1997.
PubMed
5) Osawa M, et al : Long-term lymphohematopoietic reconstitution by a single CD34-low/negative hematopoietic stem cell. Science 273 : 242-245, 1996.
PubMed
6) Hogan CJ, et al : Differential long-term and multilineage engraftment potential from subfractions of human CD34+ cord blood cells transplanted into NOD/SCID mice. Proc Natl Acad Sci USA 99 : 413-418, 2002.
PubMed
7) McKenzie JL, et al : Low rhodamine 123 retention identifies long-term human hematopoietic stem cells within the Lin-CD34+ CD38- population. Blood 109 : 543-545, 2007.
PubMed
8) Maleti R, et al : Identification of a hierarchy of multipotent hematopoietic progenitors in human cord blood. Cell Stem Cell 1 : 635-645, 2007.
 
9) Notta F, et al : Isolation of single human hematopoietic stem cells capable of long-term multilineage engraftment. Science 333 : 218-221, 2011.
PubMed
10) Kimura T, et al : Identification of long-term repopulating potential of human cord blood-derived CD34- flt3- severe combined immunodeficiency-repopulating cells by intra-bone marrow injection. Stem Cells 25 : 1348-1355, 2007.
PubMed
11) Kimura T, et al : In vivo dynamics of human cord blood-derived CD34- SCID-repopulating cells using intra-bone marrow injection. Leukemia 24 : 162-168, 2010.
PubMed
12) Ishii M, et al : Development of a high-resolution purification method for precise functional characterization of primitive human cord blood-derived CD34- negative SCID-repopulating cells. Exp Hematol 39 : 203-213, 2011.
PubMed
13) Takahashi M, et al : CD133 is a positive marker for a distinct class of primitive human cord blood-derived CD34- negative hematopoietic stem cells. Leukemia 28 : 1308-1315, 2014.
PubMed
14) Matsuoka Y, et al : Human cord blood-derived primitive CD34- negative hematopoietic stem cells (HSCs) are myeloid-biased long-term repopulating HSCs. Blood Cancer J 5 : e290, 2015.
PubMed
15) Sonoda Y : Human CD34- negative hematopoietic stem cells. In : Adult Stem Cell Therapies : Alternatives to Plasticity (ed by Ratajczak M), p 53-77, Humana Press, Springer, Berlin, 2014.
 
P.22 掲載の参考文献
1) Weiss L : The hematopoietic microenvironment of the bone marrow : an ultrastructural study of the stroma in rats. Anat Rec 186 (2) : 161-184, 1976.
PubMed
2) Dexter TM, et al : Conditions controlling the proliferation of haemopoietic stem cells in vitro. J Cell Physiol 91 (3) : 335-344, 1977.
PubMed
3) Schofield R : The relationship between the spleen colony-forming cell and the haemopoietic stem cell. Blood Cells 4 : 7-25, 1978.
PubMed
4) Taichman RS, Emerson SG : Human osteoblasts support hematopoiesis through the production of granulocyte colony-stimulating factor. J Exp Med 179 (5) : 1677-1682, 1994.
PubMed
5) Zhang J, et al : Identification of the haematopoietic stem cell niche and control of the niche size. Nature 425 : 836-841, 2003.
PubMed
6) Calvi LM, et al : Osteoblastic cells regulate the haematopoietic stem cell niche. Nature 425 : 841-846, 2003.
PubMed
7) Arai F, et al : Tie2/angiopoietin-1 signaling regulates hematopoietic stem cell quiescence in the bone marrow niche. Cell 118 (2) : 149-161, 2004.
PubMed
8) Xie T, Spradling AC : A niche maintaining germ line stem cells in the Drosophila ovary. Science 290 (5490) : 328-330, 2000.
PubMed
9) Song X, et al : Germline stem cells anchored by adherens junctions in the Drosophila ovary niches. Science 296 : 1855-1857, 2002.
PubMed
10) Kiel MJ, et al : Haematopoietic stem cells do not asymmetrically segregate chromosomes or retain BrdU. Nature 449 (7159) : 238-242, 2007.
 
11) Kiel MJ, et al : Hematopoietic stem cells do not depend on N-cadherin to regulate their maintenance. Cell Stem Cell 4 (2) : 170-179, 2009.
 
12) Bromberg O, et al : Osteoblastic N-cadherin is not required for microenvironmental support and regulation of hematopoietic stem and progenitor cells. Blood 120 (2) : 303-313, 2012.
 
13) Zhou BO, et al : Hematopoietic stem and progenitor cells regulate the regeneration of their niche by secreting Angiopoietin-1. Elife 4 : e05521, 2015.
PubMed
14) Omatsu Y, et al : The essential functions of adipo-osteogenic progenitors as the hematopoietic stem and progenitor cell niche. Immunity 33 (3) : 387-399, 2010.
PubMed
15) Li JY, et al : PTH expands short-term murine hemopoietic stem cells through T cells. Blood 120 (22) : 4352 -4362, 2012.
 
16) Ding L, et al : Endothelial and perivascular cells maintain haematopoietic stem cells. Nature 481 (7382) : 457-462, 2012.
PubMed
17) Buza-Vidas N, et al : Cytokines regulate postnatal hematopoietic stem cell expansion : opposing roles of thrombopoietin and LNK Genes Dev 20 (15) : 2018-2023, 2006.
PubMed
18) Sugiyama T, et al : Maintenance of the hematopoietic stem cell pool by CXCL12-CXCR4 chemokine signaling in bone marrow stromal cell niches. Immunity 25 : 977-988, 2006.
PubMed
19) Greenbaum A, et al : CXCL12 in early mesenchymal progenitors is required for haematopoietic stem-cell maintenance. Nature 495 : 227-230, 2013.
PubMed
20) Ding L, Morrison SJ : Haematopoietic stem cells and early lymphoid progenitors occupy distinct bone marrow niches. Nature 495 : 231-235, 2013.
PubMed
21) Yu VW, et al : Specific bone cells produce DLL4 to generate thymus-seeding progenitors from bone marrow. J Exp Med 212 (5) : 759-774, 2015.
PubMed
22) Bowers M, et al : Osteoblast ablation reduces normal long-term hematopoietic stem cell self-renewal but accelerates leukemia development. Blood 125 (17) : 2678-2688, 2015.
PubMed
23) Acar M, et al : Deep imaging of bone marrow shows non-dividing stem cells are mainly perisinusoidal. Nature 526 : 126-130, 2015.
PubMed
24) Rafii S, et al : Human bone marrow microvascular endothelial cells support long-term proliferation and differentiation of myeloid and megakaryocytic progenitors. Blood 86 (9) : 3353-3363, 1995.
PubMed
25) Kiel MJ, et al : SLAM family receptors distinguish hematopoietic stem and progenitor cells and reveal endothelial niches for stem cells. Cell 121 : 1109-1121, 2005.
PubMed
26) Ara T, et al : Long-term hematopoietic stem cells require stromal cell-derived factor-1 for colonizing bone marrow during ontogeny. Immunity 19 : 257-267, 2003.
 
27) Tokoyoda K, et al : Cellular niches controlling B lymphocyte behavior within bone marrow during development. Immunity 20 : 707-718, 2004.
PubMed
28) Zhou BO, et al : Leptin-receptor-expressing mesenchymal stromal cells represent the main source of bone formed by adult bone marrow. Cell Stem Cell 15 : 154-168, 2014.
PubMed
29) Morikawa S, et al : Prospective identification, isolation, and systemic transplantation of multipotent mesenchymal stem cells in murine bone marrow. J Exp Med 206 (11) : 2483-2496, 2009.
PubMed
30) Mendez-Ferrer S, et al : Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. Nature 466 : 829-834, 2010.
 
31) Kunisaki Y, et al : Arteriolar niches maintain haematopoietic stem cell quiescence. Nature 502 (7473) : 637-643, 2013.
PubMed
32) Yamazaki S, et al : Nonmyelinating Schwann cells maintain hematopoietic stem cell hibernation in the bone marrow niche. Cell 147 (5) : 1146-1158, 2011.
PubMed
33) Omatsu Y, et al : Foxcl is a critical regulator of haematopoietic stem/progenitor cell niche formation. Nature 508 (7497) : 536-540, 2014.
 
34) Nishimura DY, et al : The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 19 (2) : 140-147, 1998.
 
35) Aldinger KA, et al : FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat Genet 41 (9) : 1037-1042, 2009.
 
36) Kume T, et al : The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. Cell 93 (6) : 985-996, 1998.
PubMed
37) Li H, et al : Low/negative expression of PDGFR-α identifies the candidate primary mesenchymal stromal cells in adult human bone marrow. Stem Cell Reports 3 (6) : 965-974, 2014.
 
38) Nagasawa T, et al : Control of hematopoietic stem cells by the bone marrow stromal niche : the role of reticular cells. Trends Immunol 32 (7) : 315-320, 2011.
PubMed
P.28 掲載の参考文献
1) Lapidot T, et al : A cell initiating human acute myeloid leukaemia after transplantation into SCID mice. Nature 367 (6464) : 645-648, 1994.
PubMed
2) Bonnet D, Dick JE : Human acute myeloid leukemia is organized as a hierarchy that originates from a primitive hematopoietic cell. Nat Med 3 (7) : 730-737, 1997.
PubMed
3) Hope KJ, et al : Acute myeloid leukemia originates from a hierarchy of leukemic stem cell classes that differ in self-renewal capacity. Nat Immunol 5 (7) : 738-743, 2004.
PubMed
4) Ishikawa F, et al : Chemotherapy-resistant human AML stem cells home to and engraft within the bone-marrow endosteal region. Nat Biotechnol 25 (11) : 1315-1321, 2007.
PubMed
5) Schepers K, et al : Myeloproliferative neoplasia remodels the endosteal bone marrow niche into a self-reinforcing leukemic niche. Cell Stem Cell 13 (3) : 285-299, 2013.
PubMed
6) Jan M, et al : Clonal evolution of preleukemic hematopoietic stem cells precedes human acute myeloid leukemia. Sci Transl Med 4 (149) : 149ra118, 2012.
PubMed
7) Shlush LI, et al : Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia. Nature 506 (7488) : 328-333, 2014.
PubMed
8) Kikushige Y, et al : Self-renewing hematopoietic stem cell is the primary target in pathogenesis of human chronic lymphocytic leukemia. Cancer Cell 20 (2) : 246-259, 2011.
PubMed
9) Damm F, et al : Acquired initiating mutations in early hematopoietic cells of CLL patients. Cancer Discov 4 (9) : 1088-1101, 2014.
PubMed
10) Chung SS, et al : Hematopoietic stem cell origin of BRAFV600E mutations in hairy cell leukemia. Sci Transl Med 6 (238) : 238ra71, 2014.
PubMed
11) Quivoron C, et al : TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis. Cancer Cell 20 (1) : 25-38, 2011.
PubMed
12) le Viseur C, et al : In childhood acute lymphoblastic leukemia, blasts at different stages of immunophenotypic maturation have stem cell properties. Cancer Cell 14 (1) : 47-58, 2008.
PubMed
13) Morisot S, et al : High frequencies of leukemia stem cells in poor-outcome childhood precursor-B acute lymphoblastic leukemias. Leukemia 24 (11) : 1859-1866, 2010.
PubMed
14) Saito Y, et al : Induction of cell cycle entry eliminates human leukemia stem cells in a mouse model of AML. Nat Biotechnol 28 (3) : 275-280, 2010.
 
15) Jin L, et al : Monoclonal antibody-mediated targeting of CD123, IL-3 receptor alpha chain, eliminates human acute myeloid leukemic stem cells. Cell Stem Cell 5 (1) : 31-42, 2009.
PubMed
16) Jin L, et al : Targeting of CD44 eradicates human acute myeloid leukemic stem cells. Nat Med 12 (10) : 1167-1174, 2006.
PubMed
17) Majeti R, et al : CD47 is an adverse prognostic factor and therapeutic antibody target on human acute myeloid leukemia stem cells. Cell 138 (2) : 286-299, 2009.
PubMed
18) Anderson AC : Tim-3 : an emerging target in the cancer immunotherapy landscape. Cancer Immunol Res 2 (5) : 393-398, 2014.
PubMed
19) Kikushige Y, et al : TIM-3 is a promising target to selectively kill acute myeloid leukemia stem cells. Cell Stem Cell 7 (6) : 708-717, 2010.
PubMed
20) Kkushige Y, et al : A TIM-3/Gal-9 Autocrine Stimulatory Loop Drives Self-Renewal of Human Myeloid Leukemia Stem Cells and Leukemic Progression. Cell Stem Cell 17 (3) : 341-352, 2015.
 
P.34 掲載の参考文献
1) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (ed by Swerdlow SH, et al), IARC, Lyon, 2008.
 
2) Mufti GJ, et al ; International Working Group on Morphology of Myelodysplastic Syndrome : Diagnosis and classification of myelodysplastic syndrome : International Working Group on Morphology of myelodysplastic syndrome (IWGM-MDS) consensus proposals for the definition and enumeration of myeloblasts and ring sideroblasts. Haematologica 93 (11) : 1712-1717, 2008.
 
3) Sainty D, et al ; Groupe Francais d' Hematologie Cellulaire ; Groupe Frangais de Cytogenetique Hematologique ; UK Cancer Cytogenetics Group ; BIOMED 1 European Community-Concerted Action "Molecular Cytogenetic Diagnosis in Haematological Malignancies" : A new morphologic classification system for acute promyelocytic leukemia distinguishes cases with underlying PLZF/RARA gene rearrangements. Blood 96 (4) : 1287-1296, 2000.
 
4) Goasguen JE, et al ; International Working Group on Morphology of Myelodysplastic Syndrome : Morphological evaluation of monocytes and their precursors. Haematologica 94 (7) : 994-997, 2009.
 
5) Goasguen JE, et al ; International Working Group on Morphology of MDS (IWGM-MDS) : Proposal for refining the definition of dysgranulopoiesis in acute myeloid leukemia and myelodysplastic syndromes. Leuk Res 38 (4) : 447-453, 2014.
 
6) Nakamura H, et al : Morphological subtyping of acute myeloid leukemia with maturation (AML-M2) : homogeneous pink-colored cytoplasm of mature neutrophils is most characteristic of AML-M2 with t (8 : 21). Leukemia 11 (5) : 651-655, 1997.
 
P.40 掲載の参考文献
1) Tjio JH, Levan A : The chromosome number of man. Hereditas 42 : 1-6, 1956.
 
2) Casperson T, et al : Chemical differentiation along metaphase chromosomes. Exp Cell Res 49 : 219-222, 1968.
 
3) Cremer T, et al : Detection of chromosome aberrations in the human interphase nucleus by visualization of spechic target DNAs with radioactive and non-radioactive in situ hybridization techniques : diagnosis of trisomy 18 with probe L1.84. Hum Genet 74 : 346-352, 1986.
PubMed
4) Schrock E, et al : Multicolor spectral karyotyping of human chromosomes. Science 273 : 494-497, 1996.
PubMed
5) ISCN (2013) : An international System for Human Cytogenetic Nomenclature (2013) (ed by Shaffer LG, et al), S Karger, Basel, 2013.
 
6) Kallioniemi A, et al : Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258 (5083) : 818-821, 1992.
PubMed
7) Nowell PC, Hungerford D : A minute chromosome in human chronic granulocytic leukemia. Science 132 : 1497, 1960.
 
8) Rowley JD : Letter : A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 243 : 290-293, 1973.
 
9) Groffen J, et al : Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22. Cell 36 : 93-99, 1984.
PubMed
10) Rowley JD : Identification of a translocation with quinacrine fluorescence in a patient with acute leukemia. Ann Genet 16 : 109-112, 1973.
 
11) Miyoshi H, et al : t (8 ; 21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1. Proc Natl Acad Sci USA 88 : 10431-10434, 1991.
PubMed
12) Erickson P, et al : Identification of breakpoints in t (8 ; 21) acute myelogenous leukemia and isolation of a fusion transcript, AML1/ETO, with similarity to Drosophila segmentation gene, runt. Blood 80 : 1825-1831, 1992.
 
13) Mitelman database of chromosome aberrations in cancer (ed by Mitelman F, et al), 2003. 11/2002 update : http://cgap.nci.nih.gov/Chromosomes/Mitelman
 
14) Grimwade D, et al : The predictive value of hierarchical cytogenetic classification in older adults with acute myeloid leukemia (AML) : analysis of 1065 patients entered into the United Kingdom Medical Research Council AML11 trial. Blood 98 : 1312-1320, 2001.
PubMed
15) Moorman AV, et al : Karyotype is an independent prognostic factor in adult acute lymphoblastic leukemia (ALL) : analysis of cytogenetic data from patients treated on the Medical Research Council (MRC) UKALLXII/Eastern Cooperative Oncology Group (ECOG) 2993 trial. Blood 109 : 3189-3197, 2007.
PubMed
16) Harrison CJ : Cytogenetics of paediatric and adolescent acute lymphoblastic leukaemia. Br J Haematol 144 : 147-156, 2009.
PubMed
17) Janz S, et al : Lymphoma- and leukemia-associated chromosomal translocations in healthy individuals. Genes Chromosomes Cancer 36 : 211-223, 2003.
PubMed
18) Li H, et al : A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells. Science 321 (5894) : 1357-1361, 2008.
 
19) Matsumoto Y, et al : Frequent intragenic exon rearrangements in non-Hodgkin B-cell lymphoma. JSH 2015, Kanazawa.
 
P.50 掲載の参考文献
1) Swerdlow S, et al : WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, Fourth Edition, WHO Press, Lyon, 2008.
 
2) Osumi K, et al : Rapid screening of leukemia fusion transcripts in acute leukemia by real-time PCR. Leuk Lymphoma 43 (12) : 2291-2299, 2002.
PubMed
3) Cancer Genome Atlas Research Network : Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 368 (22) : 2059-2074, 2013.
 
4) Kihara R, et al : Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients. Leukemia 28 (8) : 1586-1595, 2014.
PubMed
5) Dohner H, et al : Diagnosis and management of acute myeloid leukemia in adults : recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood 115 (3) : 453-474, 2010.
 
6) Rollig C, et al : Long-term prognosis of acute myeloid leukemia according to the new genetic risk classification of the European LeukemiaNet recommendations : evaluation of the proposed reporting system. J Clin Oncol 29 (20) : 2758-2765, 2011.
 
7) Mrozek K, et al : Prognostic significance of the European LeukemiaNet standardized system for reporting cytogenetic and molecular alterations in adults with acute myeloid leukemia. J Clin Oncol 30 (36) : 4515-4523, 2012.
PubMed
8) Metzeler KH, et al : TET2 mutations improve the new European LeukemiaNet risk classhication of acute myeloid leukemia : a Cancer and Leukemia Group B study. J Clin Oncol 29 (10) : 1373-1381, 2011.
 
9) Paschka P, et al : IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication. J Clin Oncol 28 (22) : 3636-3643, 2010.
PubMed
10) Patel JP, et al : Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 366 (12) : 1079-1089, 2012.
PubMed
11) Baccarani M, et al : European LeukemiaNet recommendations for the management of chronic myeloid leukemia : 2013. Blood 122 (6) : 872-884, 2013.
PubMed
12) Redaelli S, et al : Activity of bosutinib, dasatinib, and nilotinib against 18 imatinib-resistant BCR/ABL mutants. J Clin Oncol 27 (3) : 469-471, 2009.
PubMed
P.55 掲載の参考文献
1) DeVita VT Jr, Chu E : A history of cancer chemotherapy. Cancer Res 68 (21) : 8643-8653, 2008.
 
2) History of cancer chemotherapy From Wikipedia, the free encyclopedia. [https://en.wikipedia.org/wiki/History_of_cancer_chemotherapy]
 
3) Freireich EJ, et al : The leukernias : a half-century of discovery. J Clin Oncol 32 (31) : 3463-3469, 2014.
PubMed
4) SKIPPER HE : PERSPECTIVES IN CANCER CHEMOTHERAPY : THERAPEUTIC DESIGN. Cancer Res 24 : 1295-1302, 1964.
PubMed
5) 木村禧代二 : 急性白血病の治療理念. 急性白血病, 内科MOOK (5) (山田一正編), p178-186, 金原出版, 1978.
 
6) Frei E 3rd : Curative cancer chemotherapy. Cancer Res 45 : 6523-6537, 1985.
PubMed
7) Clarkson B, et al : Studies of cellular proliferation in human leukemia. 3. Behavior of leukemic cells in three adults with acute leukemia given continuous infusions of 3 H-thymidine for 8 or 10 days. Cancer 25 (6) : 1237-1260, 1970.
PubMed
8) 山田一正 : 成人急性白血病の化学療法. 急性白血病, 内科MOOK (5) (山田一正編), p241-249, 金原出版, 1978.
 
9) Ohno R, et al : Randomized study of individualized induction therapy with or without vincristine, and of maintenance-intensification therapy between 4 or 12 courses in adult acute myeloid leukemia. AML-87 Study of the Japan Adult Leukemia Study Group. Cancer 71 (12) : 3888-3895, 1993.
 
10) Miyawaki S, et al : Comparison of leukopenia between cytarabine and behenoyl cytarabine in JALSG AML-89 consolidation therapy. The Japan Adult Leukemia Study Group. Int J Hematol 70 (1) : 56-57, 1999.
 
11) Pui CH, Evans WE : A 50-year journey to cure childhood acute lymphoblastic leukemia. Semin Hematol 50 (3) : 185-196, 2013.
PubMed
12) Yanada M, et al : Recent advances in the treatment of Philadelphia chromosome-positive acute lymphoblastic leukemia. Int J Hematol 89 (1) : 3-13, 2009.
PubMed
13) Schafer ES, Hunger SP : Optimal therapy for acute lymphoblastic leukemia in adolescents and young adults. Nat Rev Clin Oncol 8 (7) : 417-424, 2011.
 
14) History of SWOG. [http://swog.org/visitors/history.asp]
 
15) 直江知樹 : JALSGのこれまでと将来. 薬理と治療 40 : S102-S105, 2012.
 
P.62 掲載の参考文献
1) Rajkumar SV, Moreau P : Advances in biology and therapy. Nat Rev Clin Oncol 11 : 628-630, 2014.
PubMed
2) Lo-Coco F, Hasan SK : Understanding the molecular pathogenesis of acute promyelocytic leukemia. Best Pract Res Clin Haematol 27 : 3-9, 2014.
PubMed
3) Tomita A, et al : Mechanisms of action and resistance to all-trans retinoic acid (ATRA) and arsenic trioxide (As2O3) in acute promyelocytic leukemia. Int J Hematol 97 : 717-725, 2013.
PubMed
4) Nitto T, Sawaki K : Molecular mechanisms of the antileukemia activities of retinoid and arsenic. J Pharmacol Sci 126 : 179-185, 2014.
 
5) Miller WH Jr, et al : Mechanisms of action of arsenic trioxide. Cancer Res 62 : 3893-3903, 2002.
PubMed
6) Lo-Coco F, et al : Retinoic acid and arsenic trioxide for acute promyelocytic leukemia. N Engl J Med 369 : 111-121, 2013.
PubMed
7) Hehlmann R, et al : Chronic myeloid leukaemia. Lancet 370 : 342-350, 2007.
PubMed
8) Thompson TA, et al : Diagnosis and treatment of chronic myeloid leukemia in 2015. Mayo Clin Proc 90 : 1440-1454, 2015.
 
9) Jabbour E, et al : Use of second-and third-generation tyrosine kinase inhibitors in the treatment of chronic myeloid leukemia : an evolving treatment paradigm. Clin Lymphoma Myeloma Leuk 15 : 323-343, 2015.
PubMed
10) Cancer Genome Atlas Research Network : Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 373 : 2059-2074, 2013.
 
11) Hafelach T, et al : Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 28 : 241-247, 2014.
 
12) Montalban-Bravo M, Garcia-Manero G : Novel drugs for older patients With acute myeloid leukemia. Leukemia 29 : 760-769, 2015.
 
13) Garcia-Manero G : Myelodysplastic syndromes : 2015 Update on diagnosis, risk-stratincation and management. Am J Hematol 90 : 831-841, 2015.
PubMed
14) Levis M : Targeting IDH : the next big thing in AML. Blood 122 : 2770-2771, 2013.
PubMed
15) Smith CC, Shah NP : The role of kinase inhibitors in the treatment of patients with acute myeloid leukemia. Am Soc Clin Oncol Educ Book 2013 : 313-318, 2013.
PubMed
P.70 掲載の参考文献
1) Morishima Y, et al ; Japan Marrow Donor Program : Biological significance of HLA locus matching in unrelated donor bone marrow transplantation. Blood 125 (7) : 1189-1197, 2015.
 
2) Kanakry CG, et al : Multi-institutional study of post-transplantation cyclophosphamide as single-agent graft-versus-host disease prophylaxis after allogeneic bone marrow transplantation using myeloablative busulfan and fludarabine conditioning. J Clin Oncol 32 (31) : 3497-3505, 2014.
PubMed
3) Koreth J, et al : Role of reduced-intensity conditioning allogeneic hematopoietic stem-cell transplantation in older patients with de novo myelodysplastic syndromes : an international collaborative decision analysis. J Clin Oncol 31 : 2662-2670, 2013.
PubMed
4) Bredeson C, et al : Prospective cohort study comparing intravenous busulfan to total body irradiation in hematopoietic cell transplantation. Blood 122 : 3871-3878, 2013.
PubMed
5) Khera N, et al : Nonmalignant late effects and compromised functional status in survivors of hematopoietic cell transplantation. J Clin Oncol 30 : 71-77, 2012.
PubMed
6) Kollman C, et al : The effect of donor characteristics on survival after unrelated donor transplantation for hematologic malignancy. Blood 127 (2) : 260-267, 2016.
PubMed

II 白血病の疫学と危険因子

P.79 掲載の参考文献
1) Ferlay J, et al : Cancer incidence and mortality worldwide : sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer 136 (5) : E359-386, 2015.
PubMed
2) Torre LA, et al : Global cancer statistics, 2012, CA Cancer J Clin 65 (2) : 87-108, 2015.
PubMed
3) Matsuda A, et al : Cancer incidence and incidence rates in Japan in 2008 : a study of 25 population-based cancer registries for the Monitoring of Cancer Incidence in Japan (MCIJ) project. Jpn J Clin Oncol 44 (4) : 388-396, 2014.
PubMed
4) 国立がん研究センターがん情報サービス. [http://ganjoho.jp/reg_stat/statistics/dl/index.html]
 
5) 独立行政法人国立がん研究センターがん対策情報センター : 全国がん罹患モニタリング集計 2000-2002年生存率報告, 2011.
 
6) 独立行政法人国立がん研究センターがん対策情報センター : 全国がん罹患モニタリング集計 2003-2005年生存率報告, 2013.
 
7) Thein MS, et al : Outcome of older patients with acute myeloid leukemia : an analysis of SEER data over 3 decades. Cancer 119 (15) : 2720-2727, 2013.
PubMed
8) Tamaki T, et aI : The burden of rare cancer in Japan : application of the RARECARE definition. Cancer Epidemiol 38 (5) : 490-495, 2014.
 
P.86 掲載の参考文献
1) Song WJ, et al : Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23 : 166-175, 1999.
PubMed
2) Smith ML, et al : Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med 351 : 2403-2407, 2004.
PubMed
3) Moriyama T, et al : Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia : a systematic genetic study. Lancet Oncol 16 : 1659-1666, 2015.
PubMed
4) Holmfeldt L, et al : The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet 45 : 242-252, 2013.
PubMed
5) Polprasert C, et al : Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms. Cancer Cell 27 : 658-670, 2015.
PubMed
6) Vajdic CM, et al : Are antibody deficiency disorders associated with a narrower range of cancers than other forms of immunodeficiency? Blood 116 : 1228-1234, 2010.
PubMed
7) Kuehn HS, et al : Loss of B Cells in Patients with Heterozygous Mutations in IKAROS. N Engl J Med 374 : 1032-1043, 2016.
PubMed
8) Strauss SE, et al : The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood 98 : 194-200, 2001.
 
9) Takagi M, et al : Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. Blood 117 : 2887-2890, 2011.
PubMed
10) Papaemmanuil E, et al : Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. Nat Genet 41 : 1006-1010, 2009.
PubMed
11) Trevino LR, et al : Germline genomic variants associated with childhood acute lymphoblastic leukemia. Nat Genet 41 : 1001-1005, 2009.
PubMed
12) Sherborne AL, et al : Variadon in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk. Nat Genet 42 : 492-494, 2010.
PubMed
13) Xu H, et al : Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. J Natl Cancer Inst 105 : 733-742, 2013.
PubMed
14) Harty LC, et al : HLA-DR HLA-DQ, and TAP genes in familial Hodgkin disease. Blood 99 : 690-693, 2002.
PubMed
P.91 掲載の参考文献
1) Aold Y, et al : The RAS/MAPK syndromes : novel roles of the RAS pathway in human genetic disorders. Hum Mutat 29 : 992-1006, 2008.
 
2) Tidyman WE, Rauen KA : The RASopathies : developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 19 : 230-236, 2009.
 
3) Rauen KA : The RASopathies, Annu Rev Genomics Hum Genet 14 : 355-369, 2013.
PubMed
4) Aoki Y, et al : Recent advances in RASopathies. J Hum Genet 61 : 33-39, 2016.
PubMed
5) Romano AA, et al : Noonan syndrome : clinical features, diagnosis, and management guidelines. Pediatrics 126 : 746-759, 2010.
PubMed
6) Aoki Y, et al : Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK Pathway syndrome. Am J Hum Genet 93 : 173-180, 2013.
PubMed
7) Aoki Y, Matsubara Y : Ras/MAPK syndromes and childhood hemato-oncological diseases. Int J Hematol 97 : 30-36, 2013.
PubMed
8) Kratz CP, et al : Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet 157 : 83-89, 2011.
 
9) Martinelli S, et al : Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet 87 : 250-257, 2010.
 
10) Niemeyer CM, et al : Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet 42 : 794-800, 2010.
PubMed
11) Perez B, et al : Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. J Med Genet 47 : 686-691, 2010.
PubMed
12) Strullu M, et al : Juvenile myelomonocytic leukaemia and Noonan syndrome. J Med Genet 51 : 689-697, 2014.
PubMed
13) Cave H, et al : Acute lymphoblastic leukemia in the context of RASopathies. Eur J Med Genet 59 : 173-178, 2016.
PubMed
14) Kuroda Y, et al : A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome. Am J Med Genet A 167A (9) : 2223-2225, 2015.
 
15) Watanabe Y, et al : Somatic BRAF c.1799T > A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities. Am J Med Genet A 170A (1) : 189-194, 2016.
 
P.95 掲載の参考文献
1) Dokal I, Vulliamy T : Inherited bone marrow failure syndromes. Haematologica 95 : 1236-1240, 2010.
PubMed
2) Alter BP, et al : Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol 150 : 179-188, 2010.
PubMed
3) Sakaguchi H, et al : Inherited bone marrow failure syndromes in 2012. Int J Hematol 97 : 20-29, 2013.
PubMed
4) Cada M, et al : The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes. Haematologica 100 : 633-642, 2015.
PubMed
5) Alter BP : Fanconi anemia and the development of leukemia. Best Pract Res Clin Haematol 27 : 214-221, 2014.
PubMed
6) Mitchell R, et al : Haematopoietic cell transplantation for acute leukaemia and advanced myelodysplastic syndrome in Fanconi anaemia. Br J Haematol 164 : 384-395, 2014.
PubMed
7) Rosenberg PS, et al : The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 107 (12) : 4628-4635, 2006.
PubMed
8) Klein C : Genetic defects in severe congenital neutropenia : emerging insights into life and death of human neutrophil granulocytes. Annu Rev Immunol 29 : 399-413, 2011.
PubMed
9) Connelly JA, et al : Hematopoietic stem cell transplantation for severe congenital neutropenia Curr Opin Hematol 19 : 44-51, 2012.
 
10) Alter BP, et al : Cancer in dyskeratosis congenita. Blood 113 : 6549-6557 : 2009.
PubMed
11) Yamaguchi H, et al : Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan. Int J Hematol 102 : 544-552, 2015.
PubMed
12) Dror Y, et al : Clonal evolution in marrows of patients with Shwachman-Diamond syndrome : a prospective 5-year follow-up study. Exp Hematol 30 : 659-669, 2002.
PubMed
13) Vlachos A, et al : Incidence of neoplasia in Diamond Blackfan anemia : a report from the Diamond Blackfan Anemia Registry. Blood 119 : 3815-3819, 2012.
PubMed
14) Myers KC, et al : Clinical and molecular pathophysiology of Shwachman-Diamond syndrome : an update. Hematol Oncol Clin North Am 27 : 117-128, 2013.
PubMed
15) Minelli A, et al : The isochromosome i (7) (q10) carrying c.258+ 2t > c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. Leukemia 23 : 708-711, 2009.
 
P.101 掲載の参考文献
1) Hitzler JK, Zipursky A : Origins of leukaemia in children with Down syndrome. Nat Rev Cancer 5 : 11-20, 2005.
PubMed
2) Wechsler J, et al : Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet 32 : 148-152, 2002.
PubMed
3) Xu G, et al : Frequent mutations in the GATA-1 gene in the transient myeloproliferative disorder of Down syndrome. Blood 102 : 2960-2968, 2003.
PubMed
4) Ito E, et al : Expression of erythroid-specific genes in acute megakaryoblastic leukaemia and transient myeloproliferative disorder in Down's syndrome. Br J Haematol 90 : 607-614, 1995.
PubMed
5) Chou ST, et al : Trisomy 21 enhances human fetal erythro-megakaryocytic development. Blood 112 : 4503 -4506, 2008.
 
6) Korbel JO, et al : The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies. Proc Natl Acad Sci USA 106 : 12031-12036, 2009.
PubMed
7) Ng AP, et al : Trisomy of Erg is required for myeloproliferation in a mouse model of Down syndrome. Blood 115 : 3966-3969, 2010.
 
8) Malinge S, et al : Increased dosage of the chromosome 21 ortholog Dyrk1a promotes megakaryoblastic leukemia in a murine model of Down syndrome. J Clin Invest 122 : 948-962, 2012.
 
9) Muntean AG, Crispino JD : Differential requirements for the activation domain and FOG-interaction surface of GATA-1 in megakaryocyte gene expression and development. Blood 106 : 1223-1231, 2005.
PubMed
10) Kuhl C, et al : GATA1-mediated megakaryocyte differentiation and growth control can be uncoupled and mapped to different domains in GATA1. Mol Cell Biol 25 : 8592-8606, 2005.
PubMed
11) Toki T, et al : Naturally occurring oncogenic GATA1 mutants with internal deletions in transient abnormal myelopoiesis in Down syndrome. Blood 121 : 3181-3184, 2013.
PubMed
12) Roberts I, et al ; Oxford-lmperial Down Syndrome Cohort Study Group : GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome : identification of a population at risk of leukemia. Blood 122 : 3908-3917, 2013.
 
13) Yoshida K, et al : The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet 45 : 1293-1299, 2013.
PubMed
P.106 掲載の参考文献
1) Bogliolo M, Surralles J : Fanconi anemia : a model disease for studies on human genetics and advanced therapeutics. Curr Opin Genet Dev 33 : 32-40, 2015.
 
2) Wang AT, Smogorzewska A : SnapShot : Fanconi anemia and associated proteins. Cell 160 : 354-354. e1, 2015.
 
3) 矢部普正ほか : 特発性造血障害に関する調査研究班Fanconi貧血診療の参照ガイド (平成26年度改訂版). [http://zoketsushogaihan.com/file/guideline_H26/BMFFanconi.pdf]
 
4) Hadjur S, et al : Defective hematopoiesis and hepatic steatosis in mice with combined deficiencies of the genes encoding Fancc and Cu/Zn superoxide dismutase. Blood 98 : 1003-1011, 2001.
PubMed
5) Langevin F, et al : Fancd2 counteracts the toxic effects of naturally produced aldehydes in mice. Nature 475 : 53-58, 2011.
PubMed
6) Garaycoechea JI, et al : Genotoxic consequences of endogenous aldehydes on mouse haematopoietic stem cell function. Nature 489 : 571-575, 2012.
PubMed
7) Hira A, et al : Variant ALDH2 is associated with accelerated progression of bone marrow failure in Japanese Fanconi anemia patients. Blood 122 : 3206-3209, 2013.
PubMed
8) Ceccaldi R, et al : Bone marrow failure in Fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells. Cell Stem Cell 11 : 36-49, 2012.
PubMed
9) Du W, et al : TNF-α signaling in Fanconi anemia. Blood Cells Mol Dis 52 : 2-11, 2014.
 
10) Kiiski JI, et al : Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer. Proc Natl Acad Sci USA 111 : 15172-15177, 2014.
PubMed
P.112 掲載の参考文献
1) Uchiyama T, et al : Adult T-cell leukemia : clinical and hematologic features of 16 cases. Blood 50 : 481-492, 1977.
PubMed
2) Poiesz BJ, et al : Detection and isolation of type C retrovirus particles from fresh and cultured lymphocytes of a patient with cutaneous T-cell lymphoma. Proc Natl Acad Sci USA 77 : 7415-7419, 1980.
PubMed
3) Hinuma Y, et al : Adult T-cell leukemia : antigen in an ATL cell line and detection of antibodies to the antigen in human sera. Proc Natl Acad Sci USA 78 : 6476-6480, 1981.
 
4) Yoshida M, et al : Isolation and characterization of retrovirus (ATLV) from cell line of adult T cell leukemia and its implication in the disease. Proc Natl Acad Sci USA 79 : 2031-2035, 1982.
PubMed
5) de The G, Bomford R : An HTLV-1 vaccine why, how, for whom? AIDS Res Hum Retroviral 9 : 381-386, 1993.
PubMed
6) Hino S, et al : Mother-to-child transmission of human T-cell leukemia virus type-1. Jpn J Cancer Res 76 : 474-480, 1985.
 
7) Takahashi K, et al : Inhibitory effect of maternal antibody on mother-to-child transmission of human T-lymphotropic virus type 1. Int J Cancer 49 : 63-67, 1991.
 
8) Kajiyama W, et al : Intrafatnilial transmission of adult T-cell leukemia virus. J Infect Dis 154 : 851-857, 1986.
PubMed
9) Ohkochi K, et al : A retrospective study on transmission of adult T-cell leukemia virus by blood transfusion : Seroconversion in recipients. Vox Sang 46 : 245-253, 1984.
 
10) Sodorski J, et al : A transcriptional activator protein encoded by the x-lor region of human T-cell leukemia virus. Science 228 : 1430-1434, 1985.
 
11) Satou Y, et al : HTLV-1 bZIP factor induces T-cell lymphoma and systemic inflammation in Vivo. PLoS Pathog 7 : e1001274, 2011.
PubMed
12) Tsukasaki K, et al ; Japan Clinical Oncology Group Study JCOG9801 : VCAP-AMP-VECP compared with biweekly CHOP for adult T-cell leukemia-lymphoma : Japan Clinicaloncology Group Study JCOGH9801. J Clin Oncol 25 : 5458-5464, 2007.
 
13) Ishida T, et al : Allogeneic hematopoietic stem cell transplantation for adult T-cell leukemia-lymphoma with special emphasis on preconditioning regimen : a nationwide retrospective study. Blood 120 : 1734-1741, 2012.
PubMed
14) Kawada H, et al : A retrospective analysis of treatment outcomes in adult T cell leukemia/lymphoma patients with aggressive disease treated with or without allogeneic stem cell transplantation : a single-center experience. Biol Blood Marrow Transplant 21 : 696-700, 2015.
PubMed
15) Kozako T, et al : PD-1/PD-L1 expression in human T-cell leukemia virus type 1 carriers and adult T-cell leukemia/lymphoma patients. Leukemia 23 : 375-382, 2009.
PubMed
P.117 掲載の参考文献
1) Ichimaru M, et al : Incidence of leukemia in atomic bomb survivors belonging to a fixed cohort in Hiroshima and Nagasaki, 1950-71. Radiation dose, years after exposure, age at exposure, and type of leukemia. J Radiat Res 19 : 262-282, 1978.
 
2) Preston DL, et al : Solid cancer incidence in atomic bomb survivors : 1958-1998. Radiat Res 168 : 1-64, 2007.
PubMed
3) Cardis E, et al : Risk of thyroid cancer after exposure to 131I in childhood. J Natl Cancer Inst 97 : 724-732, 2005.
PubMed
4) UNSCEAR : 東日本大震災後の原子力事故による放射線被ばくのレベルと影響に関するUNSCEAR2013報告書刊行後の進展, p33, United Nations for the Japanese edition prepared by BLC Corporation, Osaka, Japan, 2015.
 
5) Zablotska LB, et al : Radiation and the risk of chronic lymphocytic and other leukemias among Chornobyl cleanup workers. Environ Health Perspect 121 : 59-65, 2013,
PubMed
6) Richardson D, et al : Ionizing radiation and leukemia mortality among Japanese Atomic Bomb Survivors. 1950-2000. Radiat Res 172 : 368-382, 2009.
PubMed
7) 放射線被曝者医療国際協力推進協議会 (編集) : 原爆放射線の人体影響, 改定第2版, 文光堂, 2012.
 
8) Kamada N, Uchino H : Preleukemic states in atomic bomb survivors in Japan. Nouv Rev Fr Hematol Blood Cells 17 : 57-65, 1976.
PubMed
9) Iwanaga M, et al : Risk of myelodysplastic syndromes in people expressed to ionizing radiation. A retrospective cohort study of Nagasaki atomic survivors. J Clin Oncol 29 : 428-434, 2011.
 
10) Harada H, et al : Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia. Blood 101 : 673-680, 2003.
PubMed
11) Harada H, et al : High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia. Blood 103 : 2316-2324, 2004.
PubMed
12) Nakanishi M, et al : Chromosomal instability in acute myelocytic leukemia and myelodysplastic syndrome patients among atomic bomb survivors. J Radiat Res 40 : 159-167, 1999.
PubMed
13) Asou H, et al : Identification of a common microdeletion cluster in 7q21.3 subband among patients with myeloid leukemia and myelodysplastic syndrome. Biochem Biophys Res Commun 383 : 245-251, 2009.
PubMed
14) Nagamachi A, et al : Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Cancer Cell 24 : 305-317, 2013.
PubMed
15) Pearce MS, et al : Radiation exposure from CT scans in childhood and subsequent risk of leukaemia and brain tumours : a retrospective cohort study. Lancet 380 : 499-505, 2012.
PubMed
16) Journy N, et al : Are the studies on cancer risk from CT scans biased by indication? Elements of answer from a large-scale cohort study in France. Br J Cancer 112 : 185-193, 2015.
 
17) Preston DL, et al : Cancer incidence in atomic bomb survivors. Part III. Leukemia, lymphoma and multiple myeloma, 1950-1987. Radiat Res 137 (2 Suppl) : S68-S97, 1994.
 
18) Nakamura N : A hypothesis : radiation-related leukemia is mainly attributable to the small number of people who carry pre-existing clonally expanded preleukemic cells. Radiat Res 163 : 258-265, 2005.
 
19) Mori H, et al : Chromosome translocations and covert leukemic clones are generated during normal fetal development. Proc Natl Acad Sci USA 99 : 8242-8247, 2002.
PubMed
20) Abe Y, et al : Increase in dicentric chromosome formation after a single CT scan in adults. Sci Rep 5 : 13882, 2015.
PubMed
21) Abe Y, et al : Analysis of chromosome translocation frequency after a single CT scan in adults. J Radiat Res 57 : 220-226, 2016.
PubMed
22) Tanaka IB 3rd, et al : Cause of death and neoplasia in mice continuously exposed to very low dose rates of gamma rays. Radiat Res 167 : 417-437, 2007.
PubMed
23) Swaminathan S, et al : Mechanisms of clonal evolution in childhood acute lymphoblastic leukemia. Nat Immunol 16 : 766-774, 2015.
PubMed
P.123 掲載の参考文献
1) Hunger SP, Mullighan CG : Acute lymphoblastic leukemia in children. N Engl J Med 373 : 1541-1552, 2015.
PubMed
2) Horibe K, et al : Incidence and survival rates of hematological malignancies in Japanese children and adolescents (2006-2010) : based on registry data from the Japanese Society of Pediatric Hematology. Int J Hematol 98 : 74 -88, 2013.
PubMed
3) Tsukimoto I, et al : Risk-stratified therapy and the intensive use of cytarabine improves the outcome in childhood acute myeloid leukemia : the AML99 Trial from the Japanese Childhood AML Cooperative Study Group. J Clin Oncol 27 : 4007-4013, 2009.
 
4) Koh K, et al : Early use of allogeneic hematopoietic stem cell transplantation for infants with MLL gene-rearrangement-positive acute lymphoblastic leukemia. Leukemia 29 : 290-296, 2015.
PubMed
5) Yan K, et al : The associations between maternal factors during pregnancy and the risk of childhood acute lymphoblastic leukemia : A meta-analysis. Pediatr Blood Cancer 62 : 1162 -1170, 2015.
 
6) Milne E, et al : Parental prenatal smoking and risk of childhood acute lymphoblastic leukemia. Am J Epidemiol 175 : 43 -53, 2012.
 
7) Manioli S, et al : Tobacco smoke and risk of childhood acute non-lymphocytjc leukemia : findings from the SETIL Study. PLoS One 9 : e111028, 2014.
PubMed
8) Puumala S E, et al : Epidemiology of childhood acute myeloid leukemia. Pediatr Blood Cancer 60 : 728-733, 2013.
PubMed
9) Kabuto M, et al : Childhood leukemia and magnetic fields in Japan : a case-control study of childhood leukemia and residential power-frequency magnetic fields in Japan. Int J Cancer 119 : 643-650, 2006.
PubMed
10) Zhao L, et al : Magnetic fields exposure and childhood leukemia risk : a meta-analysis based on 11,699 cases and 13,194 controls. Leuk Res 38 : 269-274, 2014.
 
11) Wakeford R : The risk of leukaemia in young children from exposure to tritium and carbon-14 in the discharges of German nuclear power stations and in the fallout from atmospheric nuclear weapons testing. Radiat Environ Biophys 53 : 365-379, 2014.
PubMed
12) Johnson KJ, et al : Parental age and risk of childhood cancer : A pooled analysis. Epidemiology 20 : 475-483, 2009.
 
13) Puumala SE, et al : Reproductive history, infenility treatment, and the risk of acute leukemia in children with down syndrome. Cancer 110 : 2067-2074, 2007.
PubMed
14) Rudant J, et al : Childhood acute lymphoblastic leukemia and indicators of early immune stimulation : a Childhood Leukemia International Consortium study. Am J Epidemiol 181 : 549-562, 2015.
 
15) Robison LL, et al : Birth weight as a risk factor for childhood acute lymphoblastic leukemia. Pediatr Hematol Oncol 4 : 63-72, 1987.
PubMed
16) Hjalgrim LL, et al : Birth weight as a risk factor for childhood leukemia : ameta-analysis of 18 epidemiologic studies. Am J Epidemiol 158 : 724-735, 2003.
 
17) Amitay EL, Keinan-Boker L : Breastfeeding and Childhood Leukemia Incidence : A Meta-analysis and Systematic Review. JAMA Pediatr 169 : e151025, 2015.
PubMed
18) Linabery AM, et al : The association between atopy and childhood/adolescent leukemia : a meta-analysis. Am J Epidemiol 171 : 749-764, 2010.
PubMed
19) Rudant J, et al : Childhood acute leukemia, early common infections, and allergy : The ESCALE Study. Am J Epidemiol 172 : 1015-1027, 2010.
PubMed
20) Pui CH, et al : A revised definition for cure of childhood acute lymphoblastic leukemia. Leukemia 28 : 2336-2343, 2014.
PubMed

III 白血病の生物学と発症機序

P.131 掲載の参考文献
1) Spencer JA, et al : Direct measurement of local oxygen concentration in the bone marrow of live animals. Nature 508 : 269-273, 2014.
PubMed
2) Travlos GS : Normal structure, function, and histology of the bone marrow. Toxicol Pathol 34 : 548-565, 2006.
PubMed
3) Kunisaki Y, et al : Arteriolar niches maintain haematopoietic stem cell quiescence. Nature 502 : 637-643, 2013.
PubMed
4) Park CY, Kharas MG : The hematopoietic system and hematopoiesis. In : Knowles' Neoplastic Hematopathology, 3rd ed (ed by Orazi A, et al), p 1-34, Lippincott Williams & Wilkins, Philadelphia, PA, USA 2012.
 
5) Kristensen HB, et al : Increased presence of capillaries next to remodeling sites in adult human cancellous bone. J Bone Miner Res 28 : 574-585, 2013.
PubMed
6) Morrison SJ, Scadden DT : The bone marrow niche for haematopoietic stem cells. Nature 505 : 327-334, 2014.
PubMed
7) Tripodo C, et al : CD146 (+) bone marrow osteoprogenitors increase in the advanced stages of primary myelofibrosis. Haematologica 94 : 127-130, 2009.
PubMed
8) Sugiyama T, et al : Maintenance of the hematopoietic stem cell pool by CXCL12-CXCR4 chemokine signaling in bone marrow stromal cell niches. Immunity 25 : 977-988, 2006.
PubMed
9) Abe-Suzuki S, et al : CXCL12+ stromal cells as bone marrow niche for CD34+ hematopoietic cells and their association with disease progression in myelodysplastic syndromes. Lab Invest 94 : 1212-1223, 2014.
PubMed
10) Sadahira Y, Mori M : Role of the macrophage in erythropoiesis. Pathol Int 49 : 841-848, 1999.
PubMed
11) Chow A, et al : Bone marrow CD169+ macrophages promote the retention of hematopoietic stem and progenitor cells in the mesenchymal stem cell niche. J Exp Med 208 : 261 -271, 2011.
 
12) Zhang L, et al : A novel role of sphingosine 1-phosphate receptor SlPRI in mouse thrombopoiesis. J Exp Med 209 : 2165-2181, 2012.
 
13) Gomez Perdiguero E, et al : Tissue-resident macrophages originate from yolk-sac-derived erythro-myeloid progenitors. Nature 518 : 547-555, 2015.
PubMed
14) Torlakovic EE, et al : International Council for Standardization in Haematology. ICSH guidelines for the standardization of bone marrow immunohistochemistry. Int J Lab Hematol 37 : 431-449, 2015.
PubMed
15) 定平吉都 : 免疫組織化学による造血器腫瘍の鑑別. 腫瘍病理鑑別診断アトラス造血器腫瘍 (定平吉都, 北川昌伸編), p227-239, 文光堂, 2013.
 
P.136 掲載の参考文献
1) Mebius RE, Kraal G : Structure and function of the spleen. Nat Rev Immunol 5 : 606-616, 2005.
PubMed
2) Cesta MF : Normal structure, function, and histology of the spleen. Toxicol Pathol 34 : 455-465, 2006.
PubMed
3) 佐藤孝ほか : ヒト脾臓の構造と機能. 日本門脈圧亢進症学会雑誌 15 : 344-347, 2009.
 
4) Steiniger BS : Human spleen microanatomy : why mice do not suthce. Immunology 145 : 334-346, 2015.
 
5) Magri G, et al : Innate lymphoid cells integrate stromal and immunological signals to enhance antibody production by splenic marginal zone B cells. Nat Immunol 15 : 354-364 : 2014.
 
6) 橋本直樹 : 脾摘後重症感染症と肺炎球菌ワクチンについて-ガイドライン作成に向けて-. 日本門脈圧亢進症学会雑誌 17 : 114-118, 2011.
 
P.140 掲載の参考文献
1) 竹下盛重 : リンパ組織の形態と機能. 日本臨牀 (増刊号 8) 73 : 95-100, 2015.
 
2) 松島網治, 山田幸宏 (監訳) : Abbas, Lichtman, Pillai分子細胞免疫学, 原著第7版, エルゼビア・ジャパン, 2014.
 
3) 近藤博之, 高濱洋介 : リンパ球の分化と胸腺の役割. 病理と臨床 33 : 696-702, 2015.
Medical*Online
4) 秋山泰身ほか : 自己免疫疾患と胸腺髄質上皮細胞. 病理と臨床 33 : 703-707, 2015.
Medical*Online
5) Yamano T, et al : Thymic B cells and central T cell tolerance. Front Immunol 6 : 376, 2015.
PubMed
6) 高田友子, 吉野正 : リンパ球の分化とリンパ腫発症機構. 日本臨牀 (増刊号 8) 73 : 101-104, 2015.
 
7) Yamada Y, et al : Expression of proteasome subunit β5t in thymic epithelial tumors. Am J Surg Pathol 35 : 1296-1304, 2011.
 
8) Ohigashi I, Takahama Y : CCRL1 marks heterogeneity in cortical and medullary thymic epithelial cells. Eur J Immunol 44 : 2872-2875, 2014.
PubMed
9) Ohtani H : Granuloma cells in chronic inflammation express CD205 (DEC205) antigen and harbor proliferating T lymphocytes : similarity to antigen-presenting cells. Pathol Int 63 : 85-93, 2013.
PubMed
10) Matsui N, et al : Increased number of Hassalr s corpuscles in myasthenia gravis patients with thymic hyperplasia. J Neuroimmunol 269 : 56-61, 2014.
PubMed
11) Berthelot JM, et al : Thymic Hassall's corpuscles, regulatory T-cells, and rheumatoid arthritis. Semin Arthritis Rheum 39 : 347-355, 2010.
 
12) Kopecka J, et al : Plasmacytoid DCs, exposed to TSLP in synergy with TLR ligands, acquire significant potential towards Th2 polarization. Med Sci Monit Basic Res 19 : 291-299, 2013.
 
13) Barooei R, et al : Evaluation of thymic stromal lymphopoietin (TSLP) and its correlation with lymphatic metastasis in human gastric cancer. Med Oncol 32 : 217, 2015.
PubMed
14) Hillen MR, et al : Thymic stromal lymphopoietin as a novel mediator amplifying immunopathology in rheumatic disease. Rheumatology (Oxford) 54 : 1771-1779, 2015.
PubMed
15) Ren X, et al : A potential link between TSLP/TSLPR/STAT5 and TLR2/MyD88/NFκB-p65 in human corneal epithelial cells for Aspergillus fumigatus tolerance. Mol Immunol 71 : 98-106, 2016.
 
16) Zhong J, et al : TSLP signaling pathway map : a platform for analysis of TSLP-mediated signaling. Database (Oxford) : bau007, 2014.
PubMed
17) Tuzova M, et al : CCR4+ T cell recruitment to the skin in mycosis fungoides : potential contributions by thymic stromal lymphopoietin and interleukin-16. Leuk Lymphoma 56 : 440-449, 2015.
 
18) Nakajima S, et al : Induction of thymic stromal lymphopoietin in mesenchymal stem cells by interaction with myeloma cells. Leuk Lymphoma 55 : 2605-2613, 2014.
PubMed
19) Lo Kuan E, Ziegler SF : Thymic stromal lymphopoietin and cancer. J Immunol 193 : 4283-4288, 2014.
 
P.147 掲載の参考文献
1) Janeway's免疫生物学 原著第7版 (笹月健彦監訳), 南江堂, 2010.
 
2) 森茂郎ほか : リンパ腫アトラス 改訂・改題第4版, 文光堂, 2014.
 
3) 笠原正典ほか : 器官病理学 改訂14版, 南山堂, 2013.
 
P.153 掲載の参考文献
1) Till JE, McCulloch EA : A direct measurement of the radiation sensitivity of normal mouse bone marrow cells. Radiat Res 14 : 213-222, 1961.
PubMed
2) Akashi K, et al : A clonogenic common myeloid progenitor that gives rise to all myeloid lineages. Nature 404 : 193-197, 2000.
PubMed
3) Manz MG, et al : Prospective isolation of human clonogenic common myeloid progenitors. Proc Natl Acad Sci USA 99 : 11872-11877, 2002.
PubMed
4) McCune JM, et al : The SCID-hu mouse : murine model for the analysis of human hematolymphoid differentiation and function. Science 241 : 1632-1639, 1988.
PubMed
5) Ishikawa F, et al : Development of functional human blood and immune systems in NOD/SCID/IL2 receptor｛gamma｝chain (null) mice. Blood 106 : 1565-1573, 2005.
PubMed
6) Yamauchi T, et al : Polymorphic Sirpa is the genetic determinant for NOD-based mouse lines to achieve efficient human cell engraftment. Blood 121 : 1316-1325, 2013.
PubMed
7) Visser JW, et al : Isolation of murine pluripotent hemopoietic stem cells. J Exp Med 159 : 1576-1590, 1984.
PubMed
8) Spangrude GJ, et al : Purification and characterization of mouse hematopoietic stem cells. Science 241 : 58-62, 1988.
PubMed
9) Okada S, et al : In vivo and in vitro stem cell function of c-kit- and Sca-1-positive murine hematopoietic cells. Blood 80 : 3044-3050, 1992.
PubMed
10) Galy A, et al : Human T, B, natural killer, and dendritic cells arise from a common bone marrow progenitor cell subset. Immunity 3 : 459-473, 1995.
 
11) Yamamoto R, et al : Clonal analysis unveils self-renewing lineage-restricted progenitors generated di-rectly from hematopoietic stem cells. Cell 154 : 1112-1126, 2013.
 
12) Kunisaki Y, et al : Arteriolar niches maintain haematopoietic stem cell quiescence. Nature 502 : 637-643, 2013.
PubMed
13) Nakajima H : [Signaling pathways regulating hematopoiesis and their roles in hematopoietic malignancies]. Rinsho Ketsueki 52 : 1677-1686, 2011.
PubMed
14) Iwasaki H, Akashi K : Hematopoietic developmental pathways : on cellular basis. Oncogene 26 : 6687-6696, 2007.
PubMed
15) Miyamoto T, et al : Myeloid or lymphoid promiscuity as a critical step in hematopoietic lineage commitment. Dev Cell 3 : 137-147, 2002.
 
P.159 掲載の参考文献
1) He J, et al : Kdm2b maintains murine embryonic stem cell status by recruiting PRC1 complex to CpG islands of developmental genes. Nat Cell Biol 15 : 373-384, 2013.
PubMed
2) Gao Z, et al : PCGF homologs, CBX proteins, and RYBP define functionally distinct PRC1 family complexes. Mol Cell 45 : 344-356, 2012.
PubMed
3) Kondo T, et al : Polycomb in Transcriptional Phase Transition of Developmental Genes. Trends Biochem Sci 41 : 9-19, 2016.
PubMed
4) Oguro H, et al : Differential impact of Ink4a and Arf on hematopoietic stem cells and their bone marrow microenvironment in Bmi1-deficient mice. J Exp Med 203 : 2247-2253, 2006.
PubMed
5) Oguro H, et al : Poised lineage specification in multipotential hematopoietic stem and progenitor cells by the polycomb protein Bmi1. Cell Stem Cell 6 : 279-286, 2010.
PubMed
6) Konuma T, et al : Forced expression of the histone demethylase Fbxl10 maintains self-renewing hematopoietic stem cells. Exp Hematol 39 : 697-709, 2011.
PubMed
7) Ross K, et al : Polycomb group ring finger 1 cooperates with Runxl in regulating differentiation and self-renewal of hematopoietic cells. Blood 119 : 4152-4161, 2012.
 
8) Mochizuki-Kashio M, et al : Dependency on the polycomb gene Ezh2 distinguishes fetal from adult hematopoietic stem cells, Blood 118 : 6553-6561, 2011.
PubMed
9) Muto T, et al : Concurrent loss of Ezh2 and Tet2 cooperates in the pathogenesis of myelodysplastic disorders. J Exp Med 210 : 2627-2639, 2013.
PubMed
10) Mochizuki-Kashio M, et al : Ezh2 loss in hematopoietic stem cells predisposes mice to develop heterogeneous malignancies in an Ezh1-dependent manner. Blood 126 : 1172-1183, 2015.
 
11) Xie H, et al : Polycomb repressive complex 2 regulates normal hematopoietic stem cell function in adevelopmental-stage-specific manner. Cell Stem Cell 14 : 68-80, 2014.
 
12) Yuan J, et al : Bmil is essential for leukemic reprogramming of myeloid progenitor cells. Leukemia 25 : 1335-1343, 2011.
 
13) Yoshida K, et al : The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet 45 : 1293-1299, 2013.
PubMed
14) Morin RD, et al : Somatic mutations altering EZH 2 (Tyr641) in follicular and diffuse large B-cell lymphomas of germinal-center origin. Nat Genet 42 : 181-185, 2010.
 
P.164 掲載の参考文献
1) Wharton KA, et al : Nucleotide sequence from the neurogenic locus notch implies a gene product that shares homology with proteins containing EGF-like repeats. Cell 43 (3 Pt 2) : 567-581, 1985.
 
2) Ntziachristos P, et al : From fly wings to targeted cancer therapies : a centennial for notch signaling. Cancer Cell 25 (3) : 318-334, 2014.
PubMed
3) Bigas A, Espinosa L : Hematopoietic stem cells : to be or Notch to be. Blood 119 (14) : 3226-3235, 2012.
 
4) Gama-Norton L, et al : Notch signal strength controls cell fate in the haemogenic endothelium. Nat Commun 6 : 8510, 2015.
PubMed
5) Lee SU, et al : LRF-mediated Dll4 repression in erythroblasts is necessary for hematopoietic stem cell maintenance. Blood 121 (6) : 918-929, 2013.
PubMed
6) Maillard I, et al : Canonical notch signaling is dispensable for the maintenance of adult hematopoietic stem cells. Cell Stem Cell 2 (4) 1356-366, 2008.
 
7) Radtke F, et al : Deficient T cell fate specification in mice with an induced inactivation of Notch1. Immunity 10 (5) : 547-558, 1999.
PubMed
8) Saito T, et al : Notch2 is preferentially expressed in mature B cells and indispensable for marginal zone B lineage development. Immunity 18 (5) : 675-685, 2003.
 
9) Klinakis A, et al : A novel tumour-suppressor function for the Notch pathway in myeloid leukaemia. Nature 473 (7346) : 230-233, 2011.
PubMed
10) Oh P, et al : In vivo mapping of notch pathway activity in normal and stress hematopoiesis. Cell Stem Cell 13 (2) : 190-204, 2013.
PubMed
11) Gu Y, et al : Notch signaling : its roles and therapeutic potential in hematological malignancies. Oncotarget 7 : 29804-29823, 2016.
PubMed
12) Kannan S, et al : Notch/HES1-mediated PARP1 activation : a cell type-specific mechanism for tumor suppression. Blood 117 (10) : 2891-2900, 2011.
PubMed
13) Kannan S, et al : Notch activation inhibits AML growth and survival : a potential therapeutic approach. J Exp Med 210 (2) : 321-337, 2013.
PubMed
14) Lobry C, et al : Notch pathway activation targets AML-initiating cell homeostasis and differentiation. J Exp Med 210 (2) : 301-319, 2013.
PubMed
15) Kato T, et al : Hesl suppresses acute myeloid leukemia development through FLT3 repression. Leukemia 29 (3) : 576-585, 2015.
 
16) Wang L, et al : Notch-dependent repression of miR-155 in the bone marrow niche regulates hematopoiesis in an NF-kappaB-dependent manner. Cell Stem Cell 15 (1) : 51-65, 2014.
 
P.169 掲載の参考文献
1) Greer EL, Brunet A : FOXO transcription factors at the interface between longevity and tumor suppression. Oncogene 24 : 7410-7425, 2005.
PubMed
2) Miyamoto K, et al : Foxo3a is essential for maintenance of the hematopoietic stem cell pool. Cell Stem Cell 1 : 101-112, 2007.
PubMed
3) Tothova Z, et al : FoxOs are critical mediators of hematopoietic stem cell resistance to physiologic oxidative stress. Cell 128 : 325-339, 2007.
PubMed
4) Yilmaz OH, et al : Pten dependence distinguishes haematopoietic stem cells from leukaemia-initiating cells. Nature 441 : 475-482, 2006.
PubMed
5) Zhang J, et al : P「rEN maintains haematopoietic stem cells and acts in lineage choice and leukaemia prevention. Nature 441 : 518-522, 2006.
 
6) Lee JY, et al : mTOR activation induces tumor suppressors that inhibit leukemogenesis and deplete hematopoietic stem cells after Pten deletion. Cell Stem Cell 7 : 593-605, 2010.
PubMed
7) Yamazaki S, et al : TGF-β as a candidate bone marrow niche signal to induce hematopoietic stem cell hibernation. Blood 113 : 1250-1256, 2009.
 
8) Yamazaki S, et al : Nonmyelinating Schwann cells maintain hematopoietic stem cell hibernation in the bone marrow niche. Cell 147 : 1146-1158, 2011.
PubMed
9) Naka K, et al : TGF-β-FOXO signalling maintains leukaemia-initiating cells in chronic myeloid leukaemia. Nature 463 : 676-680, 2010.
 
10) Zou P, et al : p57Kip2 and p27Kip1 cooperate to maintain hematopoietic stem cell quiescence through interactions with Hsc70. Cell Stem Cell 9 : 247-261, 2011.
PubMed
11) Matsumoto A, et al : p57 is required for quiescence and maintenance of adult hematopoietic stem cells. Cell Stem Cell 9 : 262-271, 2011.
PubMed
12) Yalcin S, et al : Foxo3 is essential for the regulation of ataxia telangiectasia mutated and oxidative stress-mediated homeostasis of hematopoietic stem cells. J Biol Chem 283 : 25692-25705, 2008.
PubMed
13) Warr MR et al : FOXO3A directs a protective autophagy program in haematopoietic stem cells. Nature 494 : 323-327, 2013.
PubMed
14) Sykes SM, et al : AKT/FOXO signaling enforces reversible differentiation blockade in myeloid leukemias. Cell 146 : 697-708, 2011.
PubMed
15) Naka K, et al : Dipeptide species regulate p38MAPK-Smad3 signalling to maintain chronic myelogenous leukaemia stem cells. Nat Commun 6 : 8039 doi : 8010.1038/ncomms9039, 2015.
 
P.174 掲載の参考文献
1) Schofield R : The relationship between the spleen colony-forming cell and the haemopoietic stem cell. Blood Cells 4 : 7-25, 1978.
PubMed
2) Morikawa T, Takubo K : Hypoxia regulates the hematopoietic stem cell niche. Pflugers Arch 468 : 13-22, 2016.
PubMed
3) Kiel MJ, et al : Lack of evidence that hematopoietic stem cells depend on N-cadherin-mediated adhesion to osteoblasts for their maintenance. Cell Stem Cell 1 : 204-217, 2007.
 
4) Ding L, et al : Endothelial and perivascular cells maintain haematopoietic stem cells. Nature 481 : 457-462, 2012.
PubMed
5) Ding L, Morrison SJ : Haematopoietic stem cells and early lymphoid progenitors occupy distinct bone marrow niches. Nature 495 : 231-235, 2013.
PubMed
6) Greenbaum A, et al : CXCL12 in early mesenchymal progenitors is required for haematopoietic stem-cell maintenance. Nature 495 : 227-230, 2013.
PubMed
7) Hooper AT, et al : Engraftmnent and reconstitution of hematopoiesis is dependent on VEGFR2-mediated regeneration of sinusoidal endothelial cells. Cell Stem Cell 4 : 263-274, 2009.
PubMed
8) Zhou BO, et al : Leptin-receptor-expressing mesenchymal stromal cells represent the main source of bone formed by adult bone marrow. Cell Stem Cell 15 : 154-168, 2014.
PubMed
9) Mendez-Ferrer S, et al : Mesenchymal and haematopoietic stem cells form a unique bone marrow niche. Nature 466 : 829-834, 2010.
 
10) Omatsu Y, et al : The essential functions of adipo-osteogenic progenitors as the hematopoietic stem and progenitor cell niche. Immunity 33 : 387-399, 2010.
PubMed
11) Kunisaki Y, et al : Arteriolar niches maintain haematopoietic stem cell quiescence. Nature 502 : 637-643, 2013.
PubMed
12) Sacchetti B, et al : Self-renewing osteoprogenitors in bone marrow sinusoids can organize a hematopoietic microenvironment. Cell 131 : 324-336, 2007.
PubMed
13) Naveiras O, et al : Bone-marrow adipocytes as negative regulators of the haematopoietic microenvironment. Nature 460 : 259-263, 2009.
PubMed
14) Omatsu Y, et al : Foxc1 is a critical regulator of haematopoietic stem/progenitor cell niche formation. Nature 508 : 536-540, 2014.
PubMed
15) Calvi LM, et al : Osteoblastic cells regulate the haematopoietic stem cell niche. Nature 425 : 841-846, 2003.
PubMed
16) Zhang J, et al : Identification of the haematopoietic stem cell niche and control of the niche size. Nature 425 : 836-841, 2003.
PubMed
17) Nakamura Y, et al : Isolation and characterization of endosteal niche cell populations that regulate hematopoietic stem cells. Blood 116 : 1422-1432, 2010.
PubMed
18) Schepers K, et al : Myeloproliferative neoplasia remodels the endosteal bone marrow niche into a self-reinforcing leukemic niche. Cell Stem Cell 13 : 285-299, 2013.
PubMed
19) Katayama Y, et al : Signals from the sympathetic nervous system regulate hematopoietic stem cell egress from bone marrow. Cell 124 : 407-421, 2006.
PubMed
20) Zhao M, et al : Megakaryocytes maintain homeostatic quiescence and promote post-injury regeneration of hematopoietic stem cells. Nat Med 20 : 1321-1326, 2014.
PubMed
21) Bruns I, et al : Megakaryocytes regulate hematopoietic stem cell quiescence through CXCL4 secredon. Nat Med 20 : 1315-1320, 2014.
PubMed
22) Nakamura-Ishizu A, et al : Megakaryocytes are essential for HSC quiescence through the production of thrombopoietin. Biochem Biophys Res Commun 454 : 353-357, 2014.
PubMed
P.179 掲載の参考文献
1) Bonnet D, Dick JE : Human acute myeloid leukemia is organized as a hierarchy that originates from a primitive hematopoietic cell. Nat Med 3 : 730-737, 1997.
PubMed
2) Taussig DC. et al : Leukemia-initiating cells from some acute myeloid leukemia patients with mutated nucleophosmin reside in the CD34- fraction. Blood 115 : 1976-1984, 2013.
 
3) Sarry JE, et al : Human acute myelogenous leukemia stem cells are rare and heterogeneous when assayed in NOD/SCID/IL2Rγc-deficient mice. J Clin Invest 121 : 384-395, 2011.
 
4) Goyama S, et al : Xenograft models for normal and mahgnant stem cells. Blood 125 : 2630-2640, 2015.
PubMed
5) van Rhenen A, et al : The novel AML stem cell-associated antigen CLL-1 aids in discrimination between normal and leukemic stem cells. Blood 110 : 2659-2666, 2007.
PubMed
6) Jordan CT, et al : The interleukin-3 receptor alpha chain is a unique marker for human acute myelogenous leukemia stem cells. Leukemia 14 : 1777-1784, 2000.
PubMed
7) Jin L, et al : Monoclonal antibody-mediated targeting of CD123, IL-3 receptor a chain, eliminates human acute myeloid leukemic stem cells. Cell Stem Cell 5 : 31-42, 2009.
PubMed
8) Jin L, et al : Targeting of CD44 eradicates human acute myeloid leukemic stem cells. Nat Med 12 : 1167-1174, 2006.
PubMed
9) Majeti R, et al : CD47 is an adverse prognostic factor and therapeutic antibody target on human acute myeloid leukemia stem cells. Cell 138 : 286-299, 2009.
PubMed
10) Kikushige Y, et al : TIM-3 is a promising target to selectively kill acute myeloid leukemia stem cells. Cell Stem Cell 7 : 708-717, 2010.
PubMed
11) Kikushige Y, et al : A TIM-3/Gal-9 Autocrine Stimulatory Loop Drives Self-Renewal of Human Myeloid Leukemia Stem Cells and Leukemic Progression. Cell Stem Cell 17 : 341-352, 2015.
PubMed
12) Cobaleda C, et al : A primitive hematopoietic cell is the target for the leukemic transfbrmation in human philadelphia-positive acute lymphoblastic leukemia. Blood 95 : 1007-1013, 2000.
PubMed
13) Aoki Y, et al : Identification of CD34+ and CD34 leukemia-initiating cells in MLL-rearranged human acute lymphoblastic leukemia. Blood 125 : 967-980, 2015.
PubMed
14) Notta F, et al : Evolution of human BCR-ABL1 lymphoblastic leukaemia-initiating cells. Nature 469 : 362-367, 2011.
PubMed
15) Herrmann H, et al : Dipeptidylpeptidase IV (CD26) defines leukemic stem cells (BC) in chronic myeloid leukemia. Blood 123 : 3951-3962, 2014.
 
P.185 掲載の参考文献
1) Flanagan SP : 'Nude', a new hairless gene with pleiotropic effects in the mouse. Genet Res 8 : 295-309, 1966.
PubMed
2) Dorshkind K, et al : Functional status of cells from lymphoid and myeloid tissues in mice with severe combined immunodeficiency disease. J Immunol 132 : 1804-1808, 1984.
PubMed
3) Fulop GM, Phillips RA : Full reconstitution of the immune deficiency in scid mice with normal stem cells requires low-dose irradiation of the recipients. J Immunol 136 : 4438-4443, 1986.
PubMed
4) Prochazka M, et al : The nonobese diabetic scid mouse : model for spontaneous thymomagenesis associated with immunodeficiency. Proc Natl Acad Sci USA 89 : 3290-3294, 1992.
PubMed
5) Greiner DL, et al : Improved engraftment of human spleen cells in NOD/LtSz-scid/scid mice as compared with C. B-17-scid/scid mice. Am J Pathol 146 : 888-902, 1995.
 
6) Ito M, et al : NOD/SCID/γcnull mouse : an excellent recipient mouse model for engraftment of human cells. Blood 100 : 3175-3182, 2002.
 
7) Ishikawa F, et al : Development of functional human blood and immune systems in NOD/SCID/IL2 receptor γ chainnull mice. Blood 106 : 1565-1573, 2005.
 
8) Shultz LD, et al : Humanized mice in translational biomedical research. Nat Rev Immunol 7 : 118-130, 2007.
PubMed
9) Ishikawa F, et al : Chemotherapy-resistant human AML stem cells home to and engraft within the bone-marrow endosteal region. Nat Biotechnol 25 : 1315-1321, 2007.
PubMed
10) Saito Y, et al : Induction of cell cycle entry eliminates human leukemia stem cells in a mouse model of AML. Nat Biotechnol 28 : 275-280, 2010.
 
11) Saito Y, et al : Identification of therapeutic targets for quiescent, chemotherapy-resistant human leukemia stem cells. Sci Transl Med 2 : 17ra9, 2010.
PubMed
12) Saito Y, et al : A pyrrolo-pyrimidine derivative targets human primary AML stem cells in vivo. Sci Transl Med 5 : 181ra52, 2013.
 
13) Aoki Y, et al : Identification of CD34+ and CD34- leukemia-initiating cells in MLL-rearranged human acute lymphoblastic leukemia. Blood 125 : 967-980, 2015.
PubMed
P.191 掲載の参考文献
1) Morrison SJ, Spradling AC : Stem cells and niches : mechanisms that promote stem cell maintenance throughout life. Cell 132 : 598-611, 2008.
PubMed
2) Klepin HD, et al : Acute myeloid leukemia and myelodysplastic syndromes in older adults. J Clin Oncol 32 : 2541-2552, 2014.
PubMed
3) Kreso A, Dick JE : Evolution of the cancer stem cell model. Cell Stem Cell 14 : 275-291, 2014.
PubMed
4) Minami Y : Overview : Cancer stem cell and tumor environment. Oncology 89 (Suppl 1) : 22-24, 2015.
 
5) Eppert K, et al : Stem cell gene expression programs influence clinica; outcome in human leukemia. Nat Med 17 : 1086-1093, 2011.
 
6) 南陽介, 直江知樹 : 白血病幹細胞に対する新たな分子標的療法と治療戦略. 血液フロンティア 24 : 1777-1785, 2014.
 
7) Saito Y, et al : Induction of cell cycle entry eliminates human leukemia stem cells in a mouse model of AML. Nat Biotechnol 28 : 275 -280, 2010.
 
8) Ninomiya M, et al : Homing, proliferation and survival sites of human leukemia cells in vivo in immunodeficient mice. Leukemia 21 : 136-142, 2007.
PubMed
9) Schepers K, et al : Normal and leukemic stem cell niches : insights and therapeutic opportunities. Cell Stem Cell 16 : 254-257, 2015.
PubMed
10) Walkley CR, et al : A microenvironment-induced myeloproliferative syndrome caused by retinoic acid receptor gamma deficiency. Cell 129 : 1097-1110, 2007.
PubMed
11) Walkley CR, et al : Rb regulates interactions between hematopoietic stem cells and their bone marrow microenvironment. Cell 129 : 1081-1095, 2007.
PubMed
12) Raaijmakers MH, et al : Bone progenitor dysfuncdon induces myelodysplasia and secondary leukaemia. Nature 464 : 852-857, 2010.
PubMed
13) Kode A, et al : Leukaemogenesis induced by an activating β-catenin mutation in osteoblasts. Nature 506 : 240-244, 2014.
Medical*Online
14) Hanoun M, et al : Acute myelogenous leukemia-induced sympathetic neuropathy promotes malignancy in an altered hematopoietic stem cell niche. Cell Stem Cell 15 : 365 -375, 2014.
 
15) Spoo AC, et al : CXCR4 is a prognostic marker in acute myelogenous leukemia. Blood 109 : 786-791, 2007.
PubMed
16) Jin L, et al : Targeting of CD44 eradicates human acute myeloid leukemic stem cells. Nat Med 12 : 1167-1174, 2006.
PubMed
17) Krause DS, et al : Requirement for CD44 in homing and engraftment of BCR-ABL-expressing leukemic stem cells. Nat Med 12 : 1175-1180, 2006.
PubMed
18) Briscoe J, et al : The mechanisms of Hedgehog signalling and its roles in development and disease. Nat Rev Mol Cell Biol 14 : 416-429, 2013.
PubMed
19) Amakye D, et al : Unraveling the therapeutic potential of the Hedgehog pathway in cancer. Nat Med 19 : 1410-1422, 2013.
 
20) Irvine DA, Copland M : Targeting hedgehog in hematologic malignancy. Blood 119 : 2196-2204, 2012.
PubMed
21) Dierks C, et al : Expansion of Bcr-Abl-positive leukemic stem cells is dependent on Hedgehog pathway activation. Cancer Cell 14 : 238-249, 2008.
PubMed
22) Martinelli G, et al : Treatment With PF-04449913, an oral smoothened antagonist, in patients with myeloid malignancies : a phase 1 safety and pharmacokinetics study. Lancet Haematol 2 : e339-346, 2015.
 
23) Minami Y, et al : Treatment with Hedgehog inhibitor PF-913 attenuates leukemia-initiation potential in acute myeloid leukemia cells. Cancer Res 74 : Abst 1884, 2014. [doi : 10.1158/1538-7445. AM 2014-1844]
 
24) Bonnet D, Dick JE : Human acute myeloid leukemia is organized as a hierarchy that originates from a primitive hematopoietic cell. Nat Med 3 : 730-737, 1997.
PubMed
25) Kikushige Y, et al : TIM-3 is a promising target to selectively kill acute myeloid leukemia stem cells. Cell Stem Cell 7 : 708-717, 2010.
PubMed
26) Kikushige Y, et al : A TIM-3/Gal-9 Autocrine Stimulatory Loop Drives Self-Renewal of Human Myeloid Leukemia Stem Cells and Leukemic Progression. Cell Stem Cell 7 : 341-352, 2015.
 
27) Fujisaki J, et al : In vivo imaging of Treg cells providing immune privilege to the haematopoietic stem-cell niche. Nature 474 : 216-219, 2011.
 
28) Khalil DN, et al : The future cancer treatment : immunomodulation, CARs and combination immunotherapy. Nat Rev Clin Oncol 13 : 273-390, 2016.
PubMed
P.199 掲載の参考文献
1) Gilliland DG, Tallman MS : Focus on acute leukemias. Cancer Cell 1 : 417-420, 2002.
PubMed
2) Kelly LM, et al : PML/RARalpha and FLT3-ITD induce an APL-like disease in a mouse model. Proc Natl Acad Sci USA 99 : 8283-8288, 2002.
 
3) Rocquain J, et al : Combined mutations of ASXL1, CBL FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias. BMC Cancer 10 : 401, 2010.
PubMed
4) Thiede C : Mutant DNMT3A : teaming up to transform. Blood 119 : 5615-5617, 2012.
PubMed
5) Kitamura T, et al : The molecular basis of myeloid malignancies. Proc Jpn Acad Ser B Phys Biol Sci 90 : 389-404, 2014.
PubMed
6) Abdel-Wahab O, et al : ASXL1 mutations promote myeloid transformation through loss of PRC2-mediated gene repression. Cancer Cell 22 : 180-193, 2012.
PubMed
7) Abdel-Wahab O, et al : Deletion of Asxll results in myelodysplasia and severe developmental defects in vivo. J Exp Med 210 : 2641-2659, 2013.
 
8) Inoue D, et al : Truncation mutants of ASXL1 observed in myeloid malignancies are expressed at detectable protein levels. Exp Hematol 44 : 172-176, 2016.
PubMed
9) Inoue D, et al : Myelodysplastic syndromes are induced by histone methylation-altering ASXL1 mutations. J Clin Invest 123 : 4627-4640, 2013.
PubMed
10) Inoue D, et al : SETBP1 mutations drive leukemic transformation in ASXL1-mutated MDS. Leukemia 29 : 847-857, 2015.
PubMed
11) Melnick A : Epigenetic therapy leaps ahead with specific targeting of EZH2. Cancer Cell 22 : 569-570, 2012.
PubMed
12) Sashida G, et al : Ezh2 loss promotes development of myelodysplastic syndrome but attenuates its predisposition to leukaemic transformation. Nat Commun 5 : 4177, 2014.
PubMed
13) Yang L, et al : DNMT3A Loss Drives Enhancer Hypomethylation in FLT3-ITD-Associated Leukemias. Cancer Cell 29 : 922-934, 2016.
PubMed
14) Ye M, et al : Hematopoietic Differentiation ls Required for Initiation of Acute Myeloid Leukemia. Cell Stem Cell 17 : 611-623, 2015.
 
15) Link DC, Walter MJ : 'CHIP' ping away at clonal hematopoiesis. Leukemia 30 : 1633-1635, 2016.
PubMed
P.208 掲載の参考文献
1) Greaves M : In utero origins of childhood leukaemia. Early Hum Dev 81 : 123-129, 2005.
PubMed
2) Greaves MF, Wiemels J : Origins of chromosome translocations in childhood leukaemia. Nat Rev Cancer 3 : 639-649, 2003.
PubMed
3) Schindler JW, et al : TEL-AML1 corrupts hematopoietic stem cells to persist in the bone marrow and initiate leukemia. Cell Stem Cell 5 : 43-53, 2009.
PubMed
4) Hong D, et al : Initiating and cancer-propagating cells in TEL-AML1-associated childhood leukemia. Science 319 : 336-339, 2008.
PubMed
5) Bonnet D, Dick JE : Human acute myeloid leukemia is organized as a hierarchy that originates from a primitive hematopoietic cell. Nat Med 3 : 730-737, 1997.
PubMed
6) Cobaleda C, et al : A primitive hematopoietic cell is the target for the leukemic transformation in human philadelphia-positive acute lymphoblastic leukemia. Blood 95 : 1007-1013, 2000.
PubMed
7) Castor A, et al : Distinct patterns of hematopoietic stem cell involvement in acute lymphoblastic leukemia. Nat Med 11 : 630-637, 2005.
PubMed
8) Hotfilder M, et al : Immature CD34+ CD- 19progenitor/stem cells in TEL/AML1-positive acute lymphoblastic leukemia are genetically and functionally normal. Blood 100 : 640-646, 2002.
 
9) le Viseur C, et al : In childhood acute lymphoblastic leukemia, blasts at different stages of immunophenotypic maturation have stem cell properties. Cancer Cell 14 : 47-58, 2008.
PubMed
10) Cox CV, et al : Characterization of acute lymphoblastic leukemia progenitor cells. Blood 104 : 2919-2925, 2004.
PubMed
11) Tsuzuki S, Seto M : TEL (ETV6) -AML1 (RUNX1) initiates self-renewing fetal pro-B cells in association with a transcriptional program shared with embryonic stem cells in mice. Stem Cells 31 : 236-247, 2013.
PubMed
12) Papaemmanuil E, et al : RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia. Nat Genet 46 : 116-125, 2014.
PubMed
13) Aoki Y, et al : Identification of CD34+ and CD34- leukemia-initiating cells in MLL-rearranged human acute lymphoblastic leukemia. Blood 125 : 967-980, 2015.
PubMed
14) Morisot S, et al : High frequencies of leukemia stem cells in poor-outcome childhood precursor-B acute lymphoblastic leukemias. Leukemia 24 : 1859-1866, 2010.
PubMed
15) Anderson K, et al : Genetic variegation of clonal architecture and propagating cells in leukaemia. Nature 469 : 356-361, 2011.
PubMed
P.214 掲載の参考文献
1) Nowell PC, Hungerford DA : A minute chromosome in human chronic granulocytic leukemia. Science 142 : 1497, 1960.
 
2) Kurzrock R, et al : The molecular genetics of Philadelphia chromosome-positive leukemias. N Engl J Med 319 : 990-998, 1988.
PubMed
3) Vardiman JW : The World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues : an overview with emphasis on the myeloid neoplasms. Chem Biol Interact 184 : 16-20, 2009.
PubMed
4) Schlenk RF, et al : Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med 358 : 1909-1918, 2008.
PubMed
5) Hirai H, et al : A point mutation at codon 13 of the N-ras oncogene in myelodysplastic syndrome. Nature 327 : 430-432, 1987.
 
6) Gilliland DG, Griffin JD : The roles of FLT3 in hematopoiesis and leukemia. Blood 100 : 1532-1542, 2002.
PubMed
7) Slingerland JM, et al : Mutation of the p53 gene in human acute myelogenous leukemia. Blood 77 : 1500-1507, 1991.
PubMed
8) Delhommeau F, et al. Mutation in TET2 in myeloid cancers. N Engl J Med 360 : 2289-2301, 2009.
PubMed
9) Sakata-Yanagimoto M, et al : Somatic RHOA mutation in angioimmunoblastic T cell lymphoma. Nat Genet 46 : 171-175, 2014.
PubMed
10) Haferlach T, et al : Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 28 : 241-247, 2014.
PubMed
11) Gilliland DG, Tallman MS : Focus on acute leukemias. Cancer Cell 1 : 417-420, 2002.
PubMed
12) Ley TJ, et al : DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 456 : 66-72, 2008.
PubMed
13) Murati A, et al : Myeloid malignancies : mutations, models and management. BMC Cancer 12304, 2012.
 
14) Bonnet D, Dick JE : Human acute myeloid leukemia is organized as a hierarchy that originates from a primitive hematopoietic cell. Nat Med 3 : 730-737, 1997.
PubMed
15) Kikushige Y, et al : Self-renewing hematopoietic stem cell is the primary target in pathogenesis of human chronic lymphocytic leukemia. Cancer Cell 20 : 246-259, 2011,
PubMed
P.221 掲載の参考文献
1) Rowley JD : Identification of a translocation with quinacrine nuorescence in a patient with acute leukemia. Ann Genet 16 (2) : 109-112, 1973.
 
2) Grimwade D, Mrozek K : Diagnostic and prognostic value of cytogenetics in acute myeloid leukemia. Hematol Oncol Clin North Am 25 (6) : 1135-1161, vii, 2011.
PubMed
3) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (ed by Swerdlow SH, et al), LARC, Lyon, 2008.
 
4) Levis M : FLT3 mutations in acute myeloid leukemia : what is the best approach in 2013? Hematology Am Soc Hematol Educ Program 2013 (1) : 220-226, 2013.
 
5) Mrozek K, et al : Clinical relevance of mutations and gene-expression changes in adult acute myeloid leukemia with normal cytogenetics : are we ready for a prognostically prioritized molecular classification? Blood 109 (2) : 431-448, 2007.
PubMed
6) Kelly LM, Gilliland DG : Genedcs of myeloid leukemias. Annu Rev Genomics Hum Genet 3 : 179-198, 2002.
PubMed
7) Pabst T, et al : Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-α (C/EBPalpha), in acute myeloid leukemia. Nat Genet 27 (3) : 263-270, 2001.
 
8) Falini B, et al ; GIMEMA Acute Leukemia Working Party : Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med 352 (3) : 254-266, 2005.
PubMed
9) Lam K, Zhang DE : RUNX1 and RUNX1-ETO : roles in hematopoiesis and leukemogenesis. Front Biosci (Landmark Ed) 17 : 1120-1139, 2012.
PubMed
10) Wouters BJ, Delwel R : Epigenetics and approaches to targeted epigenetic therapy in acute myeloid leukemia. Blood 127 (1) : 42-52, 2016.
PubMed
11) Russler-Germain DA, et al : The R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers. Cancer Cell 25 (4) : 442-454, 2014.
PubMed
12) Figueroa ME, et al : Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell 18 (6) : 553-567, 2010.
 
13) Papaemmanuil E, et al : Chronic Myeloid Disorders Working Group of the International Cancer Genome Consortium. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med 365 (15) : 1384-1395, 2011.
 
14) Mazumdar C, et al : Leukemia-associated cohesin mutants dominantly enforce stem cell programs and impair human hematopoietic progenitor differentiation. Cell Stem Cell 17 (6) : 675-688, 2015.
PubMed
15) Grimwade D, et al : Molecular landscape of acute myeloid leukemia in younger adults and its clinical relevance. Blood 127 (1) : 29-41, 2016.
PubMed
P.225 掲載の参考文献
1) Moorman AV : The clinical relevance of chromosomal and genomic abnormalities in B-cell precursor acute lymphoblastic leukaemia. Blood Rev 26 : 123-135, 2012.
 
2) Mullighan CG, et al : Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature 446 : 758-764, 2007.
PubMed
3) Kuiper RP, et al : High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression. Leukemia 21 : 1258-1266, 2007.
PubMed
4) Zhang J, et al : Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia : a report from the Children's Oncology Group. Blood 118 : 3080-3087, 2011.
 
5) Ghazavi F, et al : Molecular basis and clinical significance of genetic aberrations in B-cell precursor acute lymphoblastic leukemia. Exp Hematol 43 : 640-653, 2015.
 
6) McLean TW, et al : TEL/AML-1 dimerizes and is associated with a favorable outcome in childhood acute lymphoblastic leukemia. Blood 88 : 4252-4258, 1996.
PubMed
7) Fuka G, et al : The leukemia-specific fusion gene ETV6/RUNX1 perturbs distinct key biological functions primarily by gene repression. PLoS One 6 : e26348, 2011.
PubMed
8) Gunji H, et al : TEL/AML1 shows dominant-negative effects over TEL as well as AML1. Biochem Biophys Res Commun 322 : 623-630, 2004.
PubMed
9) Mori H, et al : Chromosome translocations and covert leukemic clones are generated during normal fetal development. Proc Natl Acad Sci USA 99 : 8242-8247, 2002.
PubMed
10) Moorman AV, et al : Prognostic effect of chromosomal abnormalities in childhood B-cell precursor acute lymphoblastic leukaemia : results from the UK Medical Research Council ALL97/99 randomised trial. Lancet Oncol 11 : 429-438, 2010.
PubMed
11) Moorman AV, et al : Karyotype is an independent prognostic factor in adult acute lymphoblastic leukemia (ALL) : analysis of cytogenetic data from patients treated on the Medical Research Council (MRC) UKALLXII/Eastern Cooperative Oncology Group (ECOG) 2993 trial. Blood 109 : 3189-3197, 2007.
PubMed
12) Aspland SE, et al : The role of E2A-PBX1 in leukemogenesis. Oncogene 20 : 5708-5717, 2001.
PubMed
13) Andersen MK, et al : Paediatric B-cell precursor acute lymphoblastic leukaemia with t (1 ; 19) (q23 ; p13) : clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols. Br J Haematol 155 : 235-243, 2011.
 
14) Bernt KM, et al : MLL-rearranged leukemia is dependent on aberrant H3K79 methylation by DOT1L. Cancer Cell 20 : 66-78, 2011.
PubMed
15) Andersson AK, et al : The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias. Nat Genet 47 : 330-337, 2015.
PubMed
16) Lugo TG, et al : Tyrosine kinase activity and transformation potency of bcr-abl oncogene products. Science 247 : 1079-1082, 1990.
PubMed
17) Yanada M, et al : High complete remission rate and promising outcome by combination of imatinib and chemotherapy for newly diagnosed BCR-ABL-positive acute lymphoblastic leukemia : a phase II study by the Japan Adult Leukemia Study Group. J Clin Oncol 24 : 460-466, 2006.
 
18) Mullighan CG, et al : Deletion of IKZF1 and prognosis in acute lymphoblastic leukemia. N Engl J Med 360 : 470-480, 2009.
PubMed
P.229 掲載の参考文献
1) Ebert BL : Deletion 5q in myelodysplastic syndrome : a paradigm for the study of hemizygous deletions in cancer. Leukemia 23 : 1252-1256, 2009.
 
2) Honda H, et al : -7/7q- syndrome in myeloid-lineage hematopoietic malignancies : attempts to understand this complex disease entity. Oncogene 34 : 2413-2425, 2015.
PubMed
3) Sanada M, et al : Unbalanced translocation der (1 : 7) (q10 ; p10) defines a unique clinicopathological subgroup of myeloid neoplasms. Leukemia 21 : 992-997, 2007.
PubMed
4) Hussain FT, et al : Sole abnormalities of chromosome 7 in myeloid malignancies : spectrum, histopathologic correlates, and prognostic implications. Am J Hematol 87 : 684-686, 2012.
PubMed
5) Slovak ML, et al : Does MDS with der (1 ; 7) (q10 ; p10) constitute a distinct risk group? A retrospective single institutional analysis of clinical/pathologic features compared to-7/del (7q) MDS. Cancer Genet Cytogenet 193 : 78-85, 2009.
 
6) Bruyere H : der (1 ; 7) (q10 ; p10) ; Atlas Genet Cytogenet Oncol Haematol. Online version : http://AtlasGeneticsOncology.org/Anomalies/t01071D1003.html
 
7) Morishita K, et al : RetroViral activation of a novel gene encoding a zinc finger protein in IL-3-dependent myeloid leukemia cell lines. Cell 54 : 831-840, 1988.
PubMed
8) Fears S, et al : Intergenic splicing of MDS1 and EVI1 occurs in normal tissues as well as in myeloid leukemia and produces a new member of the PR domain family. Proc Natl Acad Sci USA 93 : 1642-1647, 1996.
PubMed
9) Lugthart S, et al : High EVI1 levels predict adverse outcome in acute myeloid leukemia : prevalence of EVI1 overexpression and chromosome 3q26 abnormalities underestimated. Blood 111 : 4329-4337, 2008.
PubMed
10) Nagamachi A, et al : Haploinsutficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Cancer Cell 24 : 305-317, 2013.
PubMed
11) Costa D, et al ; Spanish Group of Myelodysplastic Syndromes (GESMD) : Reciprocal translocations in myelodysplastic syndromes and chronic myelomonocytic leukemias : review of 5,654 patients with an evaluable karyotype. Genes Chromosomes Cancer 52 : 753-763, 2013.
PubMed
P.235 掲載の参考文献
1) Rudkin CT, et al : DNA CONTENTS OF CHROMOSOME PH1 AND CHROMOSOME 211N HUMAN CHRONIC GRANULOCYTIC LEUKEMIA. Science 144 : 1229-1231, 1964.
 
2) Tauchi T, Broxmyer HE : BCR/ABL signal transduction. Int J Hematol 61 : 105-112, 1995.
 
3) Jamieson CH, et al : Granulocyte-macrophage progenitors as candidate leukemic stem cells in blast-crisis CML. N Engl J Med 351 (7) : 657-667, 2004.
PubMed
4) Zhao C, et al : Hedgehog signalling is essential for maintenance of cancer stem cells in myeloid leukaemia. Nature 458 : 776-779, 2009.
PubMed
5) Naka K, et al : TGF-beta-FOXO signalling maintains leukaemia-initiating cells in chronic myeloid leukaemia. Nature 463 : 676-680, 2010.
PubMed
6) Chen Y, et al : Loss of the Alox5 gene impairs leukemia stem cells and prevents chronic myeloid leukemia. Nat Genet 41 : 783-792, 2009.
PubMed
P.239 掲載の参考文献
1) Hallek M, et al : Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia : a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer Institute-Working Group 1996 guidelines. Blood 111 : 5446-5456, 2008.
 
2) Sevov M, et al : RNA-based markers as prognostic factors in chronic lymphocytic leukemia. Expert Rev Hematol 5 : 69-79, 2012.
PubMed
3) Berndt SI, et al : Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. Nat Genet 45 : 868-876, 2013.
PubMed
4) Speedy HE, et al : A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. Nat Genet 46 : 56-60, 2014.
PubMed
5) Stilgenbauer S, Zenz T : Understanding and managing ultra high-risk chronic lymphocytic leukemia. Hematology Am Soc Hematol Educ Program 2010 : 481-488, 2010.
PubMed
6) 青木定夫 : 慢性リンパ性白血病の予後に関連する分子マーカー. 血液・腫瘍科 61 : 421-429, 2010.
 
7) 青木定夫 : 慢性リンパ性白血病. 臨床血液 55 : 213-222, 2014.
 
8) 青木定夫 : 慢性リンパ性白血病 : 診断と遺伝子変異. 臨床血液 55 : 1981-1988, 2014.
 
9) Guieze R, Wu CJ : Genomic and epigenomic heterogeneity in chronic lymphocytic leukemia. Blood 126 : 445-453, 2015.
PubMed
10) Campregher PV, Hamerschlak N : Novel prognostic gene mutations identified in chronic lymphocytic leukemia and their impact on clinical practice. Clin Lymphoma Myeloma Leuk 14 : 271-276, 2014.
PubMed
11) Rossi D, et al : Mutations of NOTCH1 are an independent predictor of survival in chronic lymphocytic leukemia. Blood 119 : 521-529, 2012.
PubMed
12) Rossi D, et al : Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia : association with progression and fludarabine-refractoriness. Blood 118 : 6904-6908, 2011.
PubMed
13) Rossi D, et al : Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wildtype chronic lymphocytic leukemia. Blood 119 : 2854-2862, 2012.
PubMed
14) Martlnez-Trillos A, et al : Mutations in TLR/MYD88 pathway identify a subset of young chronic lymphocytic leukemia patients with favorable outcome. Blood 123 : 3790-3796, 2014.
 
15) Rossi D, et al : Integrated mutational and cytogenetic analysis identifies new prognostic subgroups in chronic lymphocytic leukemia. Blood 121 : 1403-1412, 2013.
PubMed
P.246 掲載の参考文献
1) Rowley JD : Chromosomal translocations : revisited yet again. Blood 112 : 2183-2189, 2008.
PubMed
2) Frohling S, D6hner H : Chromosomal abnormalities in cancer. N Engl J Med 359 : 722-734, 2008.
 
3) Sandberg AA, Meloni-Ehrig AM : Cytogenetics and genetics of human cancer : methods and accomplishments. Cancer Genet Cytogenet 203 : 102-126, 2010.
PubMed
4) Roukos V, Misteli T : The biogenesis of chromosome translocations. Nat Cell Biol 16 : 293-300, 2014.
PubMed
5) デヴィータがんの分子生物学 (宮園浩平ほか監訳), メディカル・サイエンス・インターナショナル, 2012.
 
6) Chen J, et al : Leukaemogenesis : more than mutant genes. Nat Rev Cancer 10 : 23-30, 2010.
PubMed
7) Frohling S, et al : Genetics of myeloid maligriancies : pathogenetic and clinical implications. J Clin Oncol 23 : 6285-6295, 2005.
PubMed
8) Graux C, et al : Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. Nat Genet 36 : 1084-1089, 2004.
 
9) de The H, et al : The cell biology of disease : Acute promyelocytic leukemia, arsenic, and PML bodies. J Cell Biol 198 : 11-21, 2012.
PubMed
10) Meyer C, et al : The MLL recombinome of acute leukemias in 2013. Leukemia 27 : 2165-2176, 2013.
PubMed
11) Jabbour E, et al : New insights into the pathophysiology and therapy of adult acute lymphoblastic leukemia. Cancer 121 : 2517-2528, 2015.
PubMed
12) O'Neil J, Look AT : Mechanisms of transcription factor deregulation in lymphoid cell transformation. Oncogene 26 : 6838-6849, 2007.
PubMed
13) Song J, et al : Common leukemia-and lymphoma-associated genetic aberrations in healthy individuals. J Mol Diagn 13 : 213-219, 2011.
PubMed
P.254 掲載の参考文献
1) Miyoshi H, et al : t (8 ; 21) breakpoints on chromosome 21 in acute myeloid leukemia are clustered within a limited region of a single gene, AML1. Proc Natl Acad Sci USA 88 : 10431-10434, 1991.
PubMed
2) Bae SC, et al : Isolation of PEBP2 alpha B cDNA representing the mouse homolog of human acute myeloid leukemia gene, AML1. Oncogene 8 : 809-814, 1993.
 
3) Melnikova IN, et al : Sequence specificity of the core-binding factor. J Virol 67 : 2408-2411, 1993.
PubMed
4) van Wijnen AJ, et al : Nomenclature for Runt-related (RUNX) proteins. Oncogene 23 : 4209-4210, 2004.
PubMed
5) Liu P, et al : Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. Science 261 : 1041-1044, 1993.
 
6) Miyoshi H, et al : Alternative splicing and genomic structure of the AML1 gene involved in acute myeloid leukemia. Nucleic Acids Res 23 : 2762-2769, 1995.
PubMed
7) Okuda T, et al : RUNX1/AML1 : a central player in hematopoiesis. Int J Hematol 74 : 252-257, 2001.
PubMed
8) Tsuzuki S, Seto M : Expansion of functionally defined mouse hematopoietic stem and progenitor cells by a short isoform of RUNX1/AML1. Blood 119 : 727-735, 2012.
 
9) Durst KL, Hiebert SW : Role of RUNX fatnily members in transcriptional repression and gene silencing. Oncogene 23 : 4220-4224, 2004.
 
10) Martens JH, et al : ERG and FLI1 binding sites demarcate targets for aberrant epigenetic regulation by AML1-ETO in acute myeloid leukemia. Blood 120 : 4038-4048, 2012.
PubMed
11) Nagamachi A, et al : A 5' untranslated region containing the IRES element in the Runx1 gene is required for angiogenesis, hematopoiesis and leukemogenesis in a knock-in mouse model. Dev Biol 345 : 226-236, 2010.
 
12) Goyama S, et al : Posttranslational modifications of RUNX1 as potential anticancer targets. Oncogene 34 : 3483-3492, 2015.
PubMed
13) Okuda T, et al : AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell 84 : 321-330, 1996.
PubMed
14) Wang Q, et al : Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis. Proc Natl Acad Sci USA 93 : 3444-3449, 1996.
PubMed
15) Okuda T, et al : Biological characteristics of the leukemia-associated transcriptional factor AML1 disclosed by hematopoietic rescue of AML1-deficient embryonic stem cells by using a knock-in strategy. Mol Cell Biol 20 : 319-328, 2000.
PubMed
16) Goyama S, et al : The transcriptionally active form of AML1 is required for hematopoietic rescue of the AML1-deficient embryonic para-aortic splanchnopleural (P-Sp) region. Blood 104 : 3558-3564, 2004.
 
17) Nishimura M, et al : VWRPY motif-dependent and-independent roles of AML1/Runx1 transcription factor in murine hematopoietic development. Blood 103 : 562-570, 2004.
PubMed
18) Fukushima-Nakase Y, et al : Shared and distinct roles mediated through C-terminal subdomains of acute myeloid leukemia/Runt-related transcription factor molecules in murine development. Blood 105 : 4298-4307, 2005.
PubMed
19) Ichikawa M, et al : AML-1 is required for megakaryocytic maturation and lymphocytic differentiation, but not for maintenance of hematopoietic stem cells in adult hematopoiesis. Nat Med 10 : 299-304, 2004.
PubMed
20) Taniuchi I, et al : Differential requirements for Runx proteins in CD4 repression and epigenetic silencing during T lymphocyte development. Cell 111 : 621-633, 2002.
 
21) Ono M, et al : Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1. Nature 446 : 685-689, 2007.
PubMed
22) Miyoshi H, et al : The t (8 ; 21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript. EMBO J 12 : 2715-2721, 1993.
 
23) Hiebert SW, et al : The t (8 ; 21) fusion protein contacts co-repressors and histone deacetylases to repress the transcription of the p14ARF tumor suppressor. Blood Cells Mol Dis 30 : 177-183, 2003.
 
24) Mizutani S, et al : Loss of RUNX1/AML1 arginine-methylation impairs peripheral T cell homeostasis. Br J Haematol 170 : 859-873, 2015.
PubMed
25) Ptasinska A, et al : Identification of a dynamic core transcriptional network in t (8 ; 21) AML that regulates differentiation block and self-renewal. Cell Rep 8 : 1974-1988, 2014.
 
26) Rhoades KL, et al : Synergistic up-regulation of the myeloid-specific promoter for the macrophage colony-stimulating factor receptor by AML1 and the t (8 ; 21) fusion protein may contribute to leukemogenesis. Proc Natl Acad Sci USA 93 : 11895-11900, 1996.
 
27) Wang L, et al : The leukemogenicity of AML1-ETO is dependent on site-specific lysine acetylation. Science 333 : 765-769, 2011.
PubMed
28) Yergeau DA, et al : Embryonic lethality and impairment of haematopoiesis in mice heterozygous for an AML1-ETO fusion gene. Nat Genet 15 : 303-306, 1997.
PubMed
29) Okuda T, et al : Expression of a knocked-in AML1-ETO leukemia gene inhibits the establishment of normal definitive hematopoiesis and directly generates dysplastic hematopoietic progenitors. Blood 91 : 3134-3143, 1998.
PubMed
30) Shima T, et al : The ordered acquisition of Class II and Class I mutations directs formation of human t (8 ; 21) acute myelogenous leukemia stem cell. Exp Hematol 42 : 955-965, 2014.
 
31) Wiemels JL et al : In utero origin of t (8 ; 21) AML1-ETO translocations in childhood acute myeloid leukemia. Blood 99 : 3801-3805, 2002.
PubMed
32) Higuchi M, et al : Expression of a conditional AML1-ETO oncogene bypasses embryonic lethality and establishes a murine model of human t (8 ; 21) acute myeloid leukemia. Cancer Cell 1 : 63-74, 2002.
 
33) Shimada A, et al : KIT mutations, and not FLT3 internal tandem duplication, are strongly associated with a poor prognosis in pediatric acute myeloid leukemia with t (8 ; 21) : a study of the Japanese Childhood AML Cooperative Study Group. Blood 107 : 1806-1809, 2006.
 
34) Micol JB, et al : Frequent ASXL2 mutations in acute myeloid leukemia patients with t (8 : 21) /RUNX1-RUNX1T1 chromosomal translocations. Blood 124 : 1445-1449, 2014.
 
35) Krauth MT, et al : High number of additional genetic lesions in acute myeloid leukemia with t (8 ; 21) /RUNX1-RUNX1T1 : frequency and impact on clinical outcome. Leukemia 28 : 1449-1458, 2014.
 
36) Yan M, et al : A previously unidentified alternatively spliced isoform of t (8 ; 21) transcript promotes leukemogenesis. Nat Med 12 : 945-949, 2006.
PubMed
37) Sun XJ, et al : A stable transcription factor complex nucleated by oligomeric AML1-ETO controls leukaemogenesis. Nature 500 : 93-97, 2013.
PubMed
38) Ben-Ami O, et al : Addiction of t (8 ; 21) and inv (16) acute myeloid leukemia to native RUNX1. Cell Rep 4 : 1131-1143, 2013.
PubMed
39) Goyama S, et al : Transcription factor RUNX1 promotes survival of acute myeloid leukemia cells. J Clin Invest 123 : 3876-3888, 2013.
 
40) Song WJ, et al : Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23 : 166-175, 1999.
PubMed
41) Johnson K, et al : A stem cell-based approach to cartilage repair. Science 336 : 717-721, 2012.
 
42) nlendula A, et al : A small-molecule inhibitor of the aberrant transcription factor CBFβ-SMMHC delays leukemia in mice. Science 347 : 779-784, 2015.
 
P.260 掲載の参考文献
1) Bennett JM, et al : Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group. Br J Haematol 33 : 451-458, 1976.
PubMed
2) Le Beau MM, et al : Association of an inversion of chromosome 16 with abnormal marrow eosinophils in acute myelomonocytic leukemia. A unique cytogenetic-clinicopathological association. N Engl J Med 309 : 630-636, 1983.
PubMed
3) Shurtleff SA, et al : Heterogeneity in CBF beta/MYH11 fusion messages encoded by the inv (16) (p13q22) and the t (16 ; 16) (p13 ; q22) in acute myelogenous leukemia. Blood 85 : 3695-3703, 1995.
 
4) Kihara R, et al : Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients. Leukemia 28 : 1586-1595, 2014.
PubMed
5) Liu P, et al : Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia. Science 261 : 1041-1044, 1993.
 
6) Liu PP, et al : Molecular pathogenesis of the chromosome 16 inversion in the M4Eo subtype of acute myeloid leukemia. Blood 85 : 2289-2302, 1995.
PubMed
7) Okuda T, et al : RUNX1/AML1 : a central player in hematopoiesis. Int J Hematol 74 : 252-257, 2001.
PubMed
8) Wang Q, et al : The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo. Cell 87 : 697-708, 1996.
PubMed
9) Castilla LH, et al : Failure of embryonic hematopoiesis and lethal hemorrhages in mouse embryos heterozygous for a knocked-in leukemia gene CBFB-MYH 11. Cell 87 : 687-696, 1996.
 
10) Durst KL, Hiebert SW : Role of RUNX family members in transcriptional repression and gene silencing. Oncogene 23 : 4220-4224, 2000.
 
11) Mandoli A, et al : CBFB-MYH11/RUNX1 together with a compendium of hematopoietic regulators, chromatin modifiers and basal transcription factors occupies self-renewal genes in inv (16) acute myeloid leukemia. Leukemia 28 : 770-778, 2014.
PubMed
12) Hyde RK, et al : Runx1 is required for hematopoietic defects and leukemogenesis in Cbfb-MYH11 knock-in mice. Leukemia 29 : 1771-1778, 2015.
PubMed
13) Castilla LH, et al : The fusion gene Cbfb-MYH11 blocks myeloid differentiation and predisposes mice to acute myelomonocytic leukaemia. Nat Genet 23 : 144-146, 1999.
PubMed
14) Haferlach C, et al : AML with CBFB-MYH11 rearrangement demonstrate RAS pathway alterations in 92% of all cases including a high frequency of NF1 deletions. Leukemia 24 : 1065-1069, 2010.
PubMed
15) Illendula A, et al : Chemical biology. A small-molecule inhibitor of the aberrant transcription factor CBFβ-SMMHC delays leukemia in mice. Science 347 : 779-784, 2015.
 
P.265 掲載の参考文献
1) Ohno R, et al : Treatment of acute promyelocytic leukemia : strategy toward further increase of cure rate. Leukemia 17 : 1454-1463, 2003.
PubMed
2) Mistry AR, et al : The molecular pathogenesis of acute promyelocytic leukaemia : implications for the clinical management of the disease. Blood Rev 17 : 71-97, 2003.
PubMed
3) Melnick A, Licht JD : Deconstructing a disease : RARalpha, its fusion partners, and their roles in the pathogenesis of acute promyelocytic leukemia. Blood 93 : 3167-3215, 1999.
PubMed
4) de The H, Chen Z : Acute promyelocytic leukaemia : novel insights into the mechanisms of cure. Nat Rev Cancer 10 : 775-783, 2010.
PubMed
5) Grimwade D, Lo Coco F : Acute promyelocytic leukemia : a model for the role of molecular diagnosis and residual disease monitoring in directing treatment approach in acute myeloid leukemia. Leukemia 16 : 1959-1973, 2002.
 
6) Ito K, et al : PML targeting eradicates quiescent leukaemia-initiating cells. Nature 453 : 1072-1078, 2008.
PubMed
7) Brown D, et al : A PMLRARalpha transgene initiates murine acute promyelocytic leukemia. Proc Natl Acad Sci USA 94 : 2551-2556, 1997.
 
8) He LZ, et al : Distinct interactions of PML-RARalpha and PLZF-RARalpha With co-repressors determine differential responses to RA in APL. Nat Genet 18 : 126-135, 1998.
PubMed
9) Martens JH, et al : PML-RARalpha/RXR Alters the Epigenetic Landscape in Acute Promyelocytic Leukemia. Cancer Cell 17 : 173-185, 2010.
PubMed
10) Koken MH, et al : The t (15 : 17) translocation alters a nuclear body in a retinoic acid-reversible fashion. EMBO J 13 : 1073-1083, 1994.
 
11) Nasr R, et al : Eradication of acute promyelocytic leukemia-initiating cells through PML-RARA degradation. Nat Med 14 : 1333-1342, 2008.
PubMed
12) Zhu J, et al : A sumoylation site in PML/RARA is essential for leukemic transformation. Cancer Cell 7 : 143-153, 2005.
 
13) Zhu J, et al : Arsenic-induced PML targeting onto nuclear bodies : implications for the treatment of acute promyelocytic leukemia. Proc Natl Acad Sci USA 94 : 3978-3983, 1997.
PubMed
14) Lallemand-Breitenbach V, et al : Arsenic degrades PML or PML-RARalpha through a SUMO-triggered RNF4/ubiquitin-mediated pathway. Nat Cell Biol 10 : 547-555, 2008.
 
15) Madan V, et al : Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia. Leukemia 30 : 1672-1681, 2016.
PubMed
P.272 掲載の参考文献
1) Ziemin-van der Poel S, et al : Identification of a gene, MLL, that spans the breakpoint in 11q23 translocations associated with human leukemias. Proc Natl Acad Sci USA 88 : 10735-10739, 1991.
PubMed
2) Andersson AK, et al : The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias. Nat Genet 47 : 330-337, 2015.
PubMed
3) Nagayama J, et al : Infants with acute lymphoblastic leukemia and a germline MLL gene are highly curable with use of chemotherapy alone : results from the Japan Infant Leukemia Study Group. Blood 107 : 4663-4665, 2006.
 
4) Yagi H, et al : Growth disturbance in fetal liver hematopoiesis of Mll-mutant mice. Blood 92 : 108-117, 1998.
PubMed
5) Ayton PM, Cleary ML : Transformation of myeloid progenitors by MLL oncoproteins is dependent on Hoxa7 and Hoxa9. Genes Dev 17 : 2298-2307, 2003.
PubMed
6) Krivtsov AV, et al : Transformation from committed progenitor to leukaemia stem cell initiated by MLL-AF9. Nature 442 : 818-822, 2006.
PubMed
7) Yokoyama A, et al : A higher-order complex containing AF4 and ENL family proteins with P-TEFb facilitates oncogenic and physiologic MLL-dependent transcription. Cancer Cell 17 : 198-212, 2010.
 
8) Okuda H, et al : AF4 uses the SL1 components of RNAP1 machinery to initiate MLL fusion-and AEP-dependent transcription. Nat Commun 6 : 8869, 2015.
PubMed
9) Okada Y, et al : hDOT1L links histone methylation to leukemogenesis. Cell 121 : 167-178, 2005.
PubMed
10) Chen CW, et al : DOT1L inhibits SIRT1-mediated epigenetic silencing to maintain leukemic gene expression in MLL-rearranged leukemia. Nat Med 21 : 335-343, 2015.
PubMed
11) Bernt KM, et al : MLL-rearranged leukemia is dependent on aberrant H3K79 methyladon by DOT1L. Cancer Cell 20 : 66-78, 2011.
PubMed
12) Daigle SR et al : Selective killing of mixed lineage leukemia cells by a potent small-molecule DOT1L inhibitor. Cancer Cell 20 : 53-65, 2011.
PubMed
13) Liedtke M, et al : Self-association mediated by the Ras association l domain of AF6 activates the oncogenic potential of MLL-AF6. Blood l 16 : 63-70, 2010.
 
14) Lavau C, et al : Chromatin-related properties of CBP fused to MLL generate a myelodysplastic-like syndrome that evolves into myeloid leukemia. Embo J 19 : 4655-4664, 2000.
 
15) Okuda H, et al : MLL fusion proteins link transcriptional coactivators to previously active CpG-rich promoters. Nucleic Acids Res 42 : 4241-4256, 2014.
PubMed
P.277 掲載の参考文献
1) Morishita K, et al : RetroViral activation of a novel gene encoding a zinc finger protein in IL-3-dependent myeloid leukemia cell lines. Cell 54 : 831-840, 1988.
PubMed
2) Yuasa H, et al : Oncogenic transcription factor Evil regulates hematopoietic stem cell proliferation through GATA-2 expression. EMBO J 24 : 1976-1987, 2005.
 
3) Goyama S, et al : Evi-1 is a critical regulator for hematopoietic stem cells and transformed leukemic cells. Cell Stem Cell 3 : 207-220, 2008.
PubMed
4) Groschel S, et al : High EVI1 expression predicts outcome in younger adult patients with acute myeloid leukemia and is associated with distinct cytogenetic abnormalities. J Clin Oncol 28 : 2101-2107, 2010.
PubMed
5) Lugthart S, et al : High EVI1 levels predict adverse outcome in acute myeloid leukemia : prevalence of EVI1 overexpression and chromosome 3q26 abnormalities underestimated. Blood 111 : 4329-4337, 2008.
PubMed
6) Eppert K, et al : Stem cell gene expression programs influence clinical outcome in human leukemia. Nat Med 17 : 1086-1093, 2011.
PubMed
7) Kataoka K, Kurosawa M : Ecotoropic viral integration site 1, stem cell self-renewal and leukemogenesis. Cancer Sci 103 : 1371-1377, 2012.
 
8) Yamazaki H, et al : A remote GATA2 hematopoietic enhancer drives leukemogenesis in inv (3) (q21 ; q26) by activating EVI1 expression. Cancer Cell 25 : 415-427, 2014.
PubMed
9) Groschel S, et al : A single oncogeneic enhancer rearrangent causes concomitant EVI1 and GATA2 deregulation in leukemia. Cell 157 : 369-381, 2014.
 
10) Stein S, et al : Genomic instability and myelodysplasia with monosomy 7 consequent to EVI1 activation after gene therapy for chronic granulomatous disease. Nat Med 16 : 198-204, 2010.
PubMed
11) Hinai AA, Valk PJ : Aberrant EVI1 expression in acute myeloid leukaemia. Br J Haematol 172 : 870-878, 2016.
PubMed
12) Bindels EM, et al : EVI1 is critical for the pathogensis of subset of MLL-AF9-rearranged AMLs. Blood 119 : 5838-5849, 2012.
 
13) Nishikawa S, et al : Thrombopoietin/MPL signaling confer growth and survival capacity to CD41-positive cells in a mouse model of EVI1 leukemia. Blood 124 : 3587-3596, 2014.
 
14) Saito Y, et al : CD52 as a molecular target for immunotherapy to treat acute myeloid leukemia with high EVI1 expression. Leukemia 25 : 921 -931, 2011.
 
15) Saito Y, et al : Maintenance of the hematopoietic stem cell pool in bone marrow niches by EVI1-regulated GPR56. Leukemia 27 : 1637-1649, 2013.
PubMed
P.283 掲載の参考文献
1) Matsui T, et al : Isolation of a novel receptor cDNA establishes the existence of two PDGF receptor genes. Science 243 : 800-804, 1989.
PubMed
2) Cools J, et al : A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med 348 : 1201-1214, 2003.
PubMed
3) Walz C, et al : The molecular anatomy of the FIP1L1-PDGFRA fusion gene. Leukemia 23 : 271-278, 2009.
PubMed
4) Stover EH, et al : Activation of FIP1L1-PDGFRalpha requires disruption of the juxtamembrane domain of PDGFRalpha and is FIP1L1-independent. Proc Natl Acad Sci USA lO3 : 8078-8083, 2006.
 
5) Sada A, et al : A multicenter analysis of the FIP1L1-alphaPDGFR fusion gene in Japanese idiopathic hypereosinophilic syndrome : an aberrant splicing skipping the alphaPDGFR exon 12. Ann Hematol 86 : 855-863, 2007.
 
6) Yamada Y, et al : The FIP1L1-PDGFRA fusion gene cooperates with IL-5 to induce murine hypereosinophilic syndrome (HES) /chronic eosinophilic leukemia (CEL) -like disease. Blood 107 : 4071-4079, 2006.
PubMed
7) Fukushima K, et al : FIP1L1-PDGFRalpha imposes eosinophil lineage commitment on hematopoietic stem/progenitor cells. J Biol Chem 284 : 7719-7732, 2009.
PubMed
8) Montano-Almendras CP, et al : ETV6-PDGFRB and FIP1L1-PD GFRA stimulate human hematopoietic progenitor cell proliferation and differentiation into eosinophils : the role of nuclear factor-kappaB. Haematologica 97 : 1064-1072, 2012.
 
9) Havelange V, Demouhn JB : Review of current classification, molecular alterations, and tyrosine kinase inhibitor therapies in myeloproliferative disorders with hypereosinophilia. J Blood Med 4 : 111-121, 2013.
 
10) Elling C, et al : Novel imatinib-sensitive PDGFRA-activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease. Blood 117 : 2935-2943, 2011.
PubMed
11) Sugimoto Y, et al : A novel FOXP1-PDGFRA fusion gene in myeloproliferative neoplasm with eosinophilia. Cancer Genet 208 : 508-512, 2015.
PubMed
12) Ozawa T, et al : PDGFRA gene rearrangements are frequent genetic events in PDGFRA-amplified glioblastomas. Genes Dev 24 : 2205-2218, 2010.
PubMed
13) von Bubnoff N, et al : The low frequency of chnical resistance to PDGFR inhibitors in myeloid neoplasms with abnormalities of PDGFRA might be related to the limited repertoire of possible PDGFRA kinase domain mutations in vitro. Oncogene 30 : 933-943, 2011.
 
14) Salemi S, et al : A novel FIP1L1-PDGFRA mutant destabilizing the inactive conformation of the kinase domain in chronic eosinophilic leukemia/hypereosinophilic syndrome. Allergy 64 : 913-918, 2009.
PubMed
15) Lierman E, et al : FIP1L1-PDGFRalpha D842V, a novel panresistant mutant, emerging after treatment of FIP1L1-PDGFRalpha T6741 eosinophilic leukemia with single agent sorafenib. Leukemia 23 : 845-851, 2009.
 
P.288 掲載の参考文献
1) Le Beau MM, et al : Cytogenetic and molecular delineation of a region of chromosome 7 commonly deleted in malignant myeloid diseases. Blood 88 : 1930-1935, 1996.
PubMed
2) Fischer K, et al : Molecular cytogenetic delineation of deletions and translocations involving chromosome band 7q22 in myeloid leukemias. Blood 89 : 2036-2041, 1997.
PubMed
3) Johnson E, Cotter FE : Monosomy 7 and 7q-associated with myeloid malignancy. Blood Rev 11 : 46-55, 1997.
PubMed
4) Dohner K, et al : Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders. Blood 92 : 4031-4035, 1998.
PubMed
5) Kotini AG, et al : Functional analysis of a chromosomal deletion associated with myelodysplastic syndromes using isogenic human induced pluripotent stem cells. Nat Biotechnol 33 : 646-655, 2015.
PubMed
6) Wong JC, et al : Functional eVidence implicating chromosome 7q22 haploinsufficiency in myelodysplastic syndrome pathogenesis. Elife 4, 2015.
PubMed
7) Ernst T, et al : Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat Genet 42 : 722-726, 2010.
PubMed
8) Nikoloski G, et al : Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nat Genet 42 : 665-667, 2010.
PubMed
9) Ueda T, et al : EED mutants impair polycomb repressive complex 2 in myelodysplastic syndrome and related neoplasms. Leukemia 26 : 2557-2560, 2012.
PubMed
10) Score J, et al : Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms. Blood 119 : 1208-1213, 2012.
PubMed
11) McNerney ME, et al : CUX1 is a haploinsufficient tumor suppressor gene on chromosome 7 frequently inactivated in acute myeloid leukemia. Blood 121 : 975-983, 2013.
PubMed
12) Ozaki Y, et al : Poly-ADP ribosylation of Miki by tankyrase-1 promotes centrosome maturation. Mol cell 47 : 694-706, 2012.
PubMed
13) Lemos de Matos Am et al : Evolution and divergence of the mammahan SAMD9/SAMD9L gene family. BMC Evol Biol 13 : 121, 2013.
 
14) Nagamachi A, et al : Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Cancer Cell 24 : 305-317, 2013.
PubMed
P.297 掲載の参考文献
1) Jaiswal S, et al : Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med 371 (26) : 2488-2498, 2014.
PubMed
2) Genovese G, et al : Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med 371 (26) : 2477-2487, 2014.
PubMed
3) Yasuda T, et al : Leukemic evolution of donor-derived cells harboring IDH2 and DNMT3A mutations after allogeneic stem cell transplantation. Leukemia 28 (2) : 426-428, 2014.
PubMed
4) Network CGAR : Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 368 (22) : 2059-2074, 2013.
 
5) Yoshida K, et al : Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 478 (7367) : 64-69, 2011.
PubMed
6) Haferlach T, et al : Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 28 (2) : 241-247, 2014.
PubMed
7) Welch JS, et al : The origin and evolution of mutations in acute myeloid leukemia. Cell 150 (2) : 264-278, 2012.
PubMed
8) Lindsley RC, et al : Acute myeloid leukemia ontogeny is defined by distinct somatic mutations. Blood 125 (9) : 1367-1376, 2015.
PubMed
9) Ding L, et al : Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature 481 (7382) : 506-510, 2012.
PubMed
10) Dohner H, et al : Diagnosis and management of acute myeloid leukemia in adults : recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood 115 (3) : 453-474, 2010.
 
11) Rollig C, et al : Long-term prognosis of acute myeloid leukemia according to the new genetic risk classification of the European LeukemiaNet recommendations : evaluation of the proposed reporting system. J Clin Oncol 29 (20) : 2758-2765, 2011.
 
12) Mrozek K, et al : Prognostic significance of the European LeukemiaNet standardized system for reporting cytogenetic and molecular alterations in adults with acute myeloid leukemia. J Clin Oncol 30 (36) : 4515-4523, 2012.
PubMed
13) Kihara R, et al : Comprehensive analysis of genetic alterations and their prognostic impacts in adult acute myeloid leukemia patients. Leukemia 28 (8) : 1586-1595, 2014.
PubMed
14) Meyer SC, Levine RL : Translational implications of somatic genomics in acute myeloid leukaemia. Lancet Oncol 15 (9) : e382-394, 2014.
PubMed
15) Thota S, et al : Genetic alterations of the cohesin complex genes in myeloid malignancies. Blood 124 (11) : 1790-1798, 2014.
PubMed
P.301 掲載の参考文献
1) Okuda T, et al : AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis. Cell 84 : 321-330, 1996.
PubMed
2) Osato M, et al : Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2 alphaB gene associated with myeloblastic leukemias. Blood 93 : 1817-1824, 1999.
 
3) Song WJ, et al : Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23 : 166-175, 1999.
PubMed
4) West AH, et al : Familial myelodysplastic syndrome/acute leukemia syndromes : a review and utility for translational investigations. Ann N Y Acad Sci 1310 : 111-118, 2014.
PubMed
5) Yoshimi A, et al : Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies : a nationwide survey in Japan. Ann Oncol 27 : 887-895, 2016.
PubMed
6) Antony-Debre I, et al : Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia. Blood 125 : 930-940, 2015.
 
7) Tang JL, et al : AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia : prognostic implication and interaction with other gene alterations. Blood 114 : 5352-5361, 2009.
PubMed
8) Gaidzik VI, et al : RUNX1 mutations in acute myeloid leukemia : results from a comprehensive genetic and clinical analysis from the AML study group. J Clin Oncol 29 : 1364-1372, 2011.
 
9) Nakao M, et al : Novel loss-of-function mutations of the haematopoiesis-related transcription factor, acute myeloid leukaemia 1/runt-related transcription factor 1, detected in acute myeloblastic leukaemia and myelodysplastic syndrome. Br J Haematol 125 : 709-719, 2004.
PubMed
10) Harada H, et al : High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia. Blood 103 : 2316-2324, 2004.
PubMed
11) Haferlach T, et al : Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 28 : 241-247, 2014.
PubMed
12) Cazzola M, et al : The genetic basis of myelodysplasia and its clinical relevance. Blood 122 : 4021-4034, 2013.
PubMed
13) Bejar R, et al : Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med 364 : 2496-2506, 2011.
PubMed
14) Christiansen DH, et al : Mutations of AML1 are common in therapy-related myelodysplasia following therapy with alkylating agents and are significantly associated with deletion or loss of chromosome arm 7q and with subsequent leukemic transformation. Blood 104 : 1474-1481, 2004.
PubMed
15) Sakurai M, et al : Impaired hematopoietic differentiation of RUNX1-mutated induced pluripotent stem cells derived from FPD/AML patients. Leukemia 28 : 2344-2354, 2014.
PubMed
16) Chln DW, et al : Mouse models for core binding factor leukemia. Leukemia 29 : 1970-1980, 2015.
 
17) Cancer Genome Atlas Research Network : Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 368 : 2059-2074, 2013.
 
18) Antony-Debre I, et al : Somatic mutations associated with leukemic progression of fatnilial platelet disorder with predisposition to acute myeloid leukemia. Leukemia 30 : 999-1002, 2016.
PubMed
P.306 掲載の参考文献
1) Nakao M, et al : Internal tandem duplication of the flt3 gene found in acute myeloid leukemia. Leukemia 10 (12) : 1911-1918, 1996.
PubMed
2) Iwai T, et al : Internal tandem duplication of the FLT3 gene and clinical evaluation in childhood acute myeloid leukemia. The Children's Cancer and Leukemia Study Group, Japan. Leukemia 13 (1) : 38-43, 1999.
 
3) Matthews W, et al : A receptor tyrosine kinase specific to hematopoietic stem and progenitor cell-enriched populations. Cell 65 (7) : 1143-1152, 1991.
 
4) Kiyoi H, et al : Internal tandem duplication of the FLT3 gene is a novel modality of elongation mutation which causes constitutive activation of the product. Leukemia 12 (9) : 1333-1337, 1998.
PubMed
5) Yamamoto Y, et al : Activating mutation of D835 within the activation loop of FLT3 in human hematologic malignancies. Blood 97 (8) : 2434-2439, 2001.
PubMed
6) Griffith J, et al : The structural basis for autoinhibition of FLT3 by the juxtamembrane domain. Mol Cell 13 (2) : 169-178, 2004.
PubMed
7) Horiike S, et al : Tandem duplications of the FLT3 receptor gene are associated with leukemic transformation of myelodysplasia. Leukemia 11 (9) : 1442-1446, 1997.
PubMed
8) Frohling S, et al : Prognostic significance of activating FLT3 mutations in younger adults (16 to 60 years) with acute myeloid leukemia and normal cytogenetics : a study of the AML Study Group Ulm. Blood 100 (13) : 4372-4380, 2002.
 
9) Levis M, et al : Results from a randomized trial of salvage chemotherapy followed by lestaurtinib for patients with FLT3 mutant AML in first relapse. Blood 117 (12) : 3294-3301, 2011.
PubMed
10) Stirewalt D, et al : Size of FLT3 internal tandem duplication has prognostic significance in patients with acute myeloid leukemia. Blood 107 (9) : 3724-3726, 2006.
PubMed
11) Thiede C, et al : Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia : association with FAB subtypes and identification of subgroups with poor prognosis. Blood 99 (12) : 4326-4335, 2002.
PubMed
12) Green CL, et al : Prognostic significance of CEBPA mutations in a large cohort of younger adult patients with acute myeloid leukemia : impact of double CEBPA mutations and the interaction with FLT3 and NPM1 mutations. J Clin Oncol 28 (16) : 2739-2747, 2010.
 
13) Paschka P, et al : IDH1 and IDH2 mutations are frequent genetic alterations in acute myeloid leukemia and confer adverse prognosis in cytogenetically normal acute myeloid leukemia with NPM1 mutation without FLT3 internal tandem duplication. J Clin Oncol 28 (22) : 3636-3643, 2010.
PubMed
14) D6hner H, et al : Diagnosis and management of acute myeloid leukemia in adults : recommendations from an international expert panel, on behalf of the European Leukemia Net. Blood 115 (3) : 453-474, 2010.
 
15) Engen CB, et al : Targeted Therapy of FLT3 in Treatment of AML-Current Status and Future Directions. J Clin Med 3 (4) : 1466-1489, 2014.
PubMed
16) Berenstein R : Class III Receptor Tyrosine Kinases in Acute Leukemia-Biological Functions and Modem Laboratory Analysis. Biomark Insights 10 (Suppl 3) : 1-14, 2015.
 
P.311 掲載の参考文献
1) Tenen DG : Disruption of differentiation in human cancer : AML shows the way. Nat Rev Cancer 3 (2) : 89-101, 2003.
PubMed
2) Friedman AD : C/EBPα in normal and malignant myelopoiesis. Int J Hematol 101 (4) : 330-341, 2015.
 
3) Ohlsson E, et al : The multifaceted functions of C/EBPα in normal and malignant haematopoiesis. Leukemia 30 (4) : 767-775, 2016.
 
4) Hirai H, et al : C/EBPbeta is required for 'emergency' granulopoiesis. Nat Immunol 7 (7) : 732-739, 2006.
PubMed
5) Zhang DE, et al : Absence of granulocyte colony-stimulating factor signaling and neutrophil development in CCAAT enhancer binding protein alpha-deficient mice. Proc Natl Acad Sci USA 94 (2) : 569-574, 1997.
PubMed
6) Zhang P, et al : Enhancement of hematopoietic stem cell repopulating capacity and self-renewal in the absence of the transcription factor C/EBP alpha. Immunity 21 (6) : 853-863, 2004.
PubMed
7) 平位秀世 : 好中球分化異常と疾患. 臨床血液 54 (10) : 27-38, 2013.
 
8) Skokowa J, et al : LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. Nat Med 12 (10) : 1191-1197, 2006.
PubMed
9) Ye M, et al : C/EBPa controls acquisition and maintenance of adult haematopoietic stem cell quiescence. Nat Cell Biol 15 (4) : 385-394, 2013.
 
10) Hasemann MS, et al : C/EBPα is required for long-term self-renewal and lineage priming of hematopoietic stem cells and for the maintenance of epigenetic configurations in multipotent progenitors. PLoS Genet 10 (1) : e1004079, 2014.
 
11) Nerlov C : C/EBPalpha mutations in acute myeloid leukaemias. Nat Rev Cancer 4 (5) : 394-400, 2004.
PubMed
12) Koschmieder S, et al : Dysregulation of the C/EBPalpha differentiation pathway in human cancer. J Clin Oncol 27 (4) : 619-628, 2009.
 
13) Pabst T, et al : Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia. Nat Genet 27 (3) : 263-270, 2001.
PubMed
14) Smith ML, et al : Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med 351 (23) : 2403-2407, 2004.
PubMed
15) Pabst T, et al : Heterogeneity within AML with CEBPA mutations ; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis. Br J Cancer 100 (8) : 1343-1346, 2009.
 
16) Fasan A, et al : The role of different genetic subtypes of CEBPA mutated AML. Leukemia 28 (4) : 794-803, 2014.
PubMed
17) Arber DA, et al : The 2016 reVision to the World Health Organization classhication of myeloid neoplasms and acute leukemia. Bood 127 (20) : 2391-2405, 2016.
 
18) Ohlsson E, et al : Initiation of MLL-rearranged AML is dependent on C/EBPα. J Exp Med 211 (1) : 5-13, 2014.
 
19) Collins C, et al : C/EBPα is an essential collaborator in Hoxa9/Meis1-mediated leukemogenesis. Proc Natl Acad Sci USA 111 (27) : 9899-9904, 2014.
 
20) Ye M, et al : Hematopoietic Differentiation ls Required for Initiation of Acute Myeloid Leukemia. Cell Stem Cell 17 (5) : 611-623, 2015.
 
21) Di Stefano B, et al : C/EBPα poises B cells for rapid reprogramming into induced pluripotent stem cells. Nature 506 (7487) : 235-239, 2014.
 
22) Guo H, et al : In Vrivo Deletion of the Cebpa +37kb Enhancer Markedly Reduces Cebpa mRNA in Myeloid Progenitors but Not in Non-Hematopoietic Tissues to Impair Granulopoiesis. PLoS One 11 (3) : e0150809, 2016.
 
23) Avellino R, et al : An autonomous CEBPA enhancer specific for myeloid-lineage priming and neutrophilic differentiation. Blood, 2016. [Epub ahead of print]
 
P.318 掲載の参考文献
1) 南谷泰仁 : C-KIT遺伝子異常と白血病. 造血器腫瘍アトラス 第5版, 日本医事新報社, 2016.
 
2) Cancer Genome Atlas Research Network : Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 368 : 2059-2074, 2013.
 
3) Paschka P, et al : Adverse prognostic significance of KIT mutations in adult acute myeloid leukemia with inv (16) and t (8 ; 21) : a Cancer and Leukemia Group B Study. J Clin Oncol 24 : 3904-3911, 2006.
 
4) Zhao L, et al : KIT with D816 mutations cooperates with CBFB-MYH11 for leukemogenesis in mice. Blood 119 : 1511-1521, 2012.
PubMed
5) Wang YY, et al : C-KIT mutation cooperates with full-length AML1-ETO to induce acute myeloid leukemia in mice. Proc Natl Acad Sci USA 108 : 2450-2455, 2011.
PubMed
6) Shima T, et al : The ordered acquisition of Class II and Class I mutations directs formation of human t (8 ; 21) acute myelogenous leukemia stem cell. Exp Hematol 42 : 955-965, e1-5, 2014.
 
7) Boissel N, et al : Incidence and prognostic impact of c-Kit FLT3, and Ras gene mutations in core binding factor acute myeloid leukemia (CBF-AML). Leukemia 20 : 965-970, 2006.
PubMed
8) Advani AS, et al : Increased C-kit intensity is a poor prognostic factor for progression-free and overall survival in patients with newly diagnosed AML. Leuk Res 32 : 913-918, 2008.
PubMed
9) Cairoli R, et al : C-Kit point mutations in core binding factor leukemias : correlation with white blood cell count and the white blood cell index. Leukemia 17 : 471-472, 2003.
PubMed
10) Cairoli R, et al : Prognostic impact of c-KIT mutations in core binding factor leukemias : an Italian retrospective study. Blood 107 : 3463-3468, 2006.
PubMed
11) Cairoli R, et al : Total serum tryptase : a predictive marker for KIT mutation in acute myeloid leukemia. Leuk Res 33 : 1282-1284, 2009.
PubMed
12) Schnittger S, et al : KIT-D816 mutations in AML1-ETO-positive AML are associated with impaired event-free and overall survival. Blood 107 : 1791-1799, 2006.
PubMed
13) Cairoli R, et al : Old and new prognostic factors in acute myeloid leukemia with deranged core-binding factor beta. Am J Hematol 88 : 594-600, 2013.
PubMed
14) Kristensen T, et al ; Mastocytosis Centre, Odense University Hospital (MastOUH) : Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis. Am J Hematol 89 : 493-498, 2014.
PubMed
15) Kindler T, et al : Efficacy and safety of imatinib in adult patients with c-kit-positive acute myeloid leukemia. Blood 103 : 3644-3654, 2004.
 
16) Chevallier P, et al : A phase II trial of high-dose imatinib mesylate for relapsed or refractory c-kit positive and Bcr-Abl negative acute myeloid leukaemia : the AFR-15 trial. Leuk Res 33 : 1124-1126, 2009.
PubMed
17) Mpakou VE, et al : Dasatinib inhibits proliferation and induces apoptosis in the KASUMI-1 cell line bearing the t (8 ; 21) (q22 ; q22) and the N822K c-kit mutation. Leuk Res 37 : 175-182, 2013.
 
18) Goemans BF, et al : FLT3 and KIT mutated pediatric acute myeloid leukemia (AML) samples are sensitive in vitro to the tyrosine kinase inhibitor SU11657. Leuk Res 34 : 1302-1307, 2010.
 
19) Gotlib J, et al : Activity of the tyrosine kinase inhibitor PKC412 in a patient with mast cell leukemia with the D816V KIT mutation. Blood 106 : 2865-2870, 2005.
 
P.322 掲載の参考文献
1) Tahiliani M, et al : Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. Science 324 : 930-935, 2009.
PubMed
2) Delhommeau F, et al : Mutation in TET2 in myeloid cancers. N Engl J Med 360 : 2289-2301, 2009.
PubMed
3) Busque L, et al : Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis. Nat Genet 44 : 1179-1181, 2012.
PubMed
4) Genovese G, et al : Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med 371 : 2477-2487, 2014.
PubMed
5) Quivoron C, et al : TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis. Cancer Cell 20 : 25-38, 2011.
PubMed
6) Sakata-Yanagimoto M, et al : Somatic RHOA mutation in angioimmunoblastic T cell lymphoma. Nat Genet 46 : 171-175, 2014.
PubMed
7) Abdel-Wahab O, et al : Deletion of Asxl1 results in myelodysplasia and severe developmental defects in vivo. J Exp Med 210 : 2641-2659, 2013.
PubMed
8) Muto T, et al : Concurrent loss of Ezh2 and Tet2 cooperates in the pathogenesis of myelodysplastic disorders. J Exp Med 210 : 2627-2639, 2013.
PubMed
9) Mardis ER, et al : Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 361 : 1058-1066, 2009.
PubMed
10) Figueroa ME, et al : Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell 18 : 553-567, 2010.
 
11) Sasaki M, et al : IDH1 (R132H) mutation increases murine haematopoietic progenitors and alters epigenetics. Nature 488 : 656-659, 2012.
PubMed
12) Ogawara Y, et al : IDH2 and NPM1 Mutations Cooperate to Activate Hoxa9/Meisl and Hypoxia Pathways in Acute Myeloid Leukemia. Cancer Res 75 : 2005-2016, 2015.
 
13) Chan SM, et al : Isocitrate dehydrogenase 1 and 2 mutations induce BCL-2 dependence in acute myeloid leukemia. Nat Med 21 : 178-184, 2015.
PubMed
14) Green CL, et al : The prognostic signhicance of IDH1 mutations in younger adult patients with acute myeloid leukemia is dependent on FLT3/ITD status. Blood 116 : 2779-2782, 2010.
PubMed
15) Papaemmanuil E, et al : Genomic Classification and Prognosis in Acute Myeloid Leukemia. N Engl J Med 374 : 2209-2221, 2016.
PubMed
P.327 掲載の参考文献
1) Nimer SD : Myelodysplastic syndromes. Blood 111 (10) : 4841-4851, 2008.
PubMed
2) Sawada K, et al : Prohferation and differentiation of myelodysplastic CD34+ cells : phenotypic subpopulations of marrow CD34+ cells. Blood 85 (1) : 194-202, 1995.
PubMed
3) Yoshida K, et al : Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 478 (7367) : 64-69, 2011.
PubMed
4) Kon A, et al : Recurrent mutations in multiple components of the cohesin complex in myeloid neoplasms. Nat Genet 45 (10) : 1232-1237, 2013.
PubMed
5) Genovese G, et al : Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med 371 (26) : 2477-2487, 2014.
PubMed
6) McKerrell T, et al : Leukemia-Associated Somatic Mutations Drive Distinct Patterns of Age-Related Clonal Hemopoiesis. Cell Rep 10 (8) : 1239-1245, 2015.
PubMed
7) Steensma DP, et al : Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood 126 (1) : 9-16, 2015.
PubMed
8) Harada H, Harada Y : Recent advances in myelodysplastic syndromes : Molecular pathogenesis and its implications for targeted therapies. Cancer Sci 106 (4) : 329-336, 2015.
PubMed
9) Wang C, et al : Depletion of Sf3b1 impairs proliferative capacity of hematopoietic stem cells but is not sufficient to induce myelodysplasia. Blood 123 (21) : 3336-3343, 2014.
 
10) Damlan RB, et al : Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3' Splice Site Selection through Use of a Different Branch Point. Cell Rep 13 (5) : 1033-1045, 2015.
 
11) Shirai CL, et al : Mutant U2AF1 Expression Alters Hematopoiesis and Pre-mRNA Splicing In Vivo. Cancer Cell 27 (5) : 631-643, 2015.
PubMed
12) Kim E, et al : SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition. Cancer Cell 27 (5) : 617-630, 2015.
PubMed
13) Muto T, et al : Concurrent loss of Ezh2 and Tet2 cooperates in the pathogenesis of myelodysplastic disorders. J Exp Med 210 (12) : 2627 -2639, 2013.
 
14) Mochizuki-Kashio M, et al : Ezh2 loss in hematopoietic stem cells predisposes mice to develop heterogeneous malignancies in an Ezh1-dependent manner. Blood 126 (10) : 1172-1183, 2015.
 
15) Sashida G, et al : Ezh2 loss promotes development of myelodysplastic syndrome but attenuates its predisposition to leukaemic transformation. Nat Commun 5 (May) : 4177, 2014.
PubMed
P.332 掲載の参考文献
1) WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues (ed by Swerdlow SH, et al), p40-50, IARC press, Lyon, 2008.
 
2) Kralovics R, et al : A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352 (17) : 1779-1790, 2005.
PubMed
3) Pardanani AD, et al : MPL515 mutations in myeloproliferative and other myeloid disorders : a study of 1182 patients. Blood 108 (10) : 3472-3476, 2006.
PubMed
4) Pikman Y, et al : MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 3 (7) : e270, 2006.
PubMed
5) Klampfl T, et al : Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med 369 (25) : 2379-2390, 2013.
PubMed
6) Nangalia J, et al : Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med 369 (25) : 2391-2405, 2013.
PubMed
7) Scott LM, et al : JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 356 (5) : 459-468, 2007.
PubMed
8) Mullally A, et al : Myeloproliferative neoplasm animal models. Hematol Oncol Clin North Am 26 (5) : 1065-1081, 2012.
PubMed
9) Marty C, et al : Calreticulin mutants in mice induce an MPL-dependent thrombocytosis with frequent progression to myelofibrosis. Blood 127 (10) : 1317-1324, 2016.
PubMed
10) Chachoua I, et al : Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants. Blood 127 (10) : 1325-1335, 2016.
PubMed
11) Araki M, et al : Activation of the thrombopoietin receptor by mutant calreticulin in CALR-mutant myeloproliferative neoplasms. Blood 127 (10) : 1307-1316, 2016.
PubMed
12) Shide K, et al : TET2 is essential for survival and hematopoietic stem cell homeostasis. Leukemia 26 (10) : 2216-2223, 2012.
PubMed
13) Rotunno G, et al : Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia. Blood 123 (10) : 1552-1555, 2014.
PubMed
14) Rumi E, et al : JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood 123 (10) : 1544-1551, 2014.
 
15) Rumi E, et al : Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. Blood 124 (7) : 1062-1069, 2014.
 
P.337 掲載の参考文献
1) Van den Berghe H, et al : Distinct haematological disorder with deletion of long arm of no. 5 chromosome. Nature 251 : 437-438, 1974.
PubMed
2) Boultwood J, et al : Narrowing and genomic annotation of the commonly deleted region of the 5q-syndrome. Blood 99 : 4638-4641, 2002.
PubMed
3) Ebert BL, et al : Identification of RPS14 as a 5q-syndrome gene by RNA interference screen. Nature 451 : 335-339, 2008.
PubMed
4) Barlow JL et al : A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q-syndrome. Nat Med 16 : 59-66, 2010.
 
5) Schneider RK, et al : Rps14 haploinsufficiency causes a block in erythroid differentiation mediated by S100A8 and S100A9. Nat Med 22 : 288-297, 2016.
PubMed
6) Starczynowski DT, et al : Identification of miR-145 and miR-146a as mediators of the 5q-syndrome phenotype. Nat Med 16 : 49-58, 2010.
PubMed
7) Nagamachi A, et al : Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7. Cancer Cell 24 : 305-317, 2013.
PubMed
8) Sauerbrey A, et al : Expression of the retinoblastoma tumor suppressor gene (RB-1) in acute leukemia Leuk Lymphoma 28 : 275-283, 1998.
PubMed
9) Hemandez-Boussard T, et al : IARC p53 mutation database : a relational database to compile and analyze p53 mutations in human tumors and cell lines. International Agency for Research on Cancer. Hum Mutat 14 : 1-8, 1999.
 
10) Lai JL, et al : Myelodysplas6c syndromes and acute myeloid leukemia with 17P deletion. An entity characterized by specific dysgranulopoiesis and a high incidence of P53 mutations. Leukemia 9 : 370-381, 1995.
 
11) Fenaux P, et al : P53 gene mutations in acute myeloid leukemia with 17p monosomy. Blood 78 : 1652-1657, 1991.
PubMed
12) Ichikawa M, et al : A role for RUNX1 in hematopoiesis and myeloid leukemia. Int J Hematol 97 : 726-734, 2013.
PubMed
13) Song WJ, et al : Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 23 : 166-175, 1999.
PubMed
14) Yoshimi A, et al : Recurrent CDC25C mutations drive malignant transformation in FPD/AML. Nat Commun 5 : 4770, 2014.
PubMed
15) Kelly LM, Gilliland DG : Genetics of myeloid leukemias. Annu Rev Genomics Hum Genet 3 : 179-198, 2002.
PubMed
P.343 掲載の参考文献
1) Takahashi T, et al : Generalized lymphoproliferative disease in mice, caused by a point mutation in the Fas ligand. Cell 76 : 969-976, 1994.
PubMed
2) Kamihira S, et al : Quantitative characterization and potential function of membrane Fas/APO-1 (CD95) receptors on leukaemic cells from chronic B and T lymphoid leukaemias. Br J Haematol 99 : 858-865, 1997.
 
3) Riccioni R, et al : TRAIL decoy receptors mediate resistance of acute myeloid leukemia cells to TRAIL Haematologica 90 : 612-624, 2005.
PubMed
4) Stankovic T, Skowronska A : The role of ATM mutations and 11q deletions in disease progression in chronic lymphocytic leukemia. Leuk Lymphoma 55 : 1227-1239, 2014.
PubMed
5) Wiederschain D, et al : Molecular basis of p53 functional inactivation by the leukemic protein MLL-ELL. Mol Cell Biol 23 : 4230-4246, 2003.
PubMed
6) Qi J, et al : HDAC8 Inhibition Specifically Targets Inv (16) Acute Myeloid Leukemic Stem Cells by Restoring p53 Acetylation. Cell Stem Cell 17 : 597-610, 2015.
PubMed
7) Mohr A, et al : Caspase-8L expression protects CD34+ hematopoietic progenitor cells and leukemic cells from CD95-mediated apoptosis. Oncogene 24 : 2421-2429, 2005.
PubMed
8) Estrov Z, et al : Caspase 2 and caspase 3 protein levels as predictors of survival in acute myelogenous leukemia. Blood 92 : 3090-3097, 1998.
PubMed
9) Pluta A, et al : Prognostic value of inhibitor of apoptosis protein family expression in patients with acute myeloid leukemia. Leuk Lymphoma 56 : 2529-2535, 2015.
PubMed
10) Carter BZ, et al : Small-molecule XIAP inhibitors derepress downstream effector caspases and induce apoptosis of acute myeloid leukemia cells. Blood 105 : 4043-4050, 2005.
PubMed
11) Del Poeta G, et al : Amount of spontaneous apoptosis detected by Bax/Bcl-2 ratio predicts outcome in acute myeloid leukemia (AML). Blood 101 : 2125-2131, 2003.
PubMed
12) Paz-Priel I, et al : CCAAT/enhancer binding protein alpha (C/EBPalpha) and C/EBPalpha myeloid oncoproteins induce bcl-2 via interaction of their basic regions with nuclear factor-kappaB p50. Mol Cancer Res 3 : 585-596, 2005.
 
13) Minami Y, et al : Different antiapoptotic pathways between wild-type and mutated FLT3 : insights into therapeutic targets in leukemia. Blood 102 : 2969-2975, 2003.
PubMed
14) Kamitsuji Y, et al : The Bcr-Abl kinase inhibitor INNO-406 induces autophagy and different modes of cell death execution in Bcr-Abl-positive leukemias. Cell Death Differ 15 : 1712-1722, 2008.
PubMed
15) Okada M, et al : A novel mechanism for imatinib mesylate-induced cell death of BCR-ABL-positive human leukemic cells : caspase-independent, necrosis-like programmed cell death mediated by serine protease activity. Blood 103 : 2299-2307, 2004.
 
16) Watanabe M, et al : Induction of autophagy in malignant rhabdoid tumor cells by the histone deacetylase inhibitor FK228 through AIF translocation. Int J Cancer 124 : 55-67, 2009.
PubMed
P.349 掲載の参考文献
1) Ley TJ, et al : DNMT3A mutations in acute myeloid leukemia. N Engl J Med 363 : 2424-2433, 2010.
PubMed
2) Muto T, et al : Concurrent loss of Ezh2 and Tet2 cooperates in the pathogenesis of myelodysplastic disorders. J Exp Med 210 : 2627-2639, 2013.
PubMed
3) Schnittger S, et al : ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome. Leukemia 27 : 82-91, 2013.
PubMed
4) Itzykson R, et al : Prognostic score including gene mutations in chronic myelomonocytic leukemia. J Clin Oncol 31 : 2428-2436, 2013.
PubMed
5) Inoue D, et al : Myelodysplastic syndromes are induced by histone methylation-altering ASXL1 mutations. J Clin Invest 123 : 4627-4640, 2013.
PubMed
6) Micol JB, et al : Frequent ASXL2 mutations in acute myeloid leukemia patients with t (8 ; 21) / RUNX1-RUNX1T1 chromosomal translocations. Blood 124 : 1445-1449, 2014.
 
7) Cancer Genome Atlas Research N : Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med 368 : 2059-2074, 2013.
PubMed
8) Papaemmanuil E, et al : Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood 122 : 3616-3627, 2013.
PubMed
9) Haferlach T, et al : Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 28 : 241-247, 2014.
PubMed
10) Shih AH, et al : Mutational cooperativity linked to combinatorial epigenetic gain of function in acute myeloid leukemia. Cancer Cell 27 : 502-515, 2015.
PubMed
11) Lundberg P, et al : Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms. Blood 123 : 2220-2228, 2014.
PubMed
12) Ortmann CA, et al : Effect of mutation order on myeloproliferative neoplasms. N Engl J Med 372 : 601-612, 2015,
PubMed
13) Itzykson R, Solary E : An evolutionary perspective on chronic myelomonocytic leukemia. Leukemia 27 : 1441-1450, 2013.
PubMed
14) Genovese G, et al : Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med 371 : 2477-2487, 2014.
PubMed
15) Jaiswal S, et al : Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med 371 : 2488-2498, 2014.
PubMed
16) Xie M, et al : Age-related mutations associated with clonal hematopoietic expansion and malignancies. Nat Med 20 : 1472-1478, 2014.
PubMed
17) Lindsley RC, et al : Acute myeloid leukemia ontogeny is defined by distinct somatic mutations. Blood 125 : 1367-1376, 2015.
PubMed
18) Steensma DP, et al : Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes. Blood 126 : 9-16, 2015.
PubMed
19) Kwok B, et al : MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance. Blood 126 : 2355-2361, 2015.
PubMed
20) Pastore F, Levine RL : Epigenetic regulators and their impact on therapy in acute myeloid leukemia. Haematologica 101 : 269-278, 2016.
 
P.354 掲載の参考文献
1) Leone G, et al : Incidence and susceptibility to therapy-related myeloid neoplasms. Chem Biol Interact 184 : 39-45, 2010.
PubMed
2) Morton LM, et al : Evolving risk of therapy-related acute myeloid leukemia following cancer chemotherapy among adults in the United States, 1975-2008. Blood 121 : 2996-3004, 2013.
PubMed
3) Godley LA, Larson RA : Therapy-related myeloid leukemia. Semin Oncol 35 : 418-429, 2008.
PubMed
4) Vardiman JW, et al : The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia : rationale and important changes. Blood 114 : 937-951, 2009.
PubMed
5) Pedersen-Bjergaard J, et al : Alternative genetic pathways and cooperating genetic abnormalities in the pathogenesis of therapy-related myelodysplasia and acute myeloid leukemia. Leukemia 20 : 1943-1949, 2006.
PubMed
6) Kayser S, et al : The impact of therapy-related acute myeloid leukemia (AML) on outcome in 2853 adult patients with newly diagnosed AML. Blood 117 : 2137-2145, 2011.
PubMed
7) Voso MT, et al : Epigenetic changes in therapy-related MDS/AML. Chem Biol Interact 184 : 46-49, 2010.
PubMed
8) Sill H, et al : Therapy-related myeloid neoplasms : pathobiology and clinical characteristics. Br J Pharmacol 162 : 792-805, 2011.
PubMed
9) Levine RL, Gilliland DG : Myeloproliferative disorders. Blood 112 : 2190-2198, 2008.
PubMed
10) Ding Y, et al : AML1/RUNX1 point mutation possibly promotes leukemic transformation in myeloproliferative neoplasms. Blood 114 : 5201-5205, 2009.
PubMed
11) Imagawa J, et al : Clinical and genetic features of therapy-related myeloid neoplasms after chemotherapy for acute promyelocytic leukemia. Blood 116 : 6018-6022, 2010.
PubMed
P.359 掲載の参考文献
1) Granfeldt Ostgard LS, et al : Epidemiology and Clinical Significance of Secondary and Therapy-Related Acute Myeloid Leukemia : A National Population-Based Cohort Study. J Clin Oncol 31 : 3641-3649, 2015.
PubMed
2) Kayser S, et al : The impact of therapy-related acute myeloid leukemia (AML) on outcome in 2853 adult patients with newly diagnosed AML. Blood 117 : 2137-2145, 2011.
PubMed
3) Ross JA, et al : Infant leukemia, topoisomerase II inhibitors, and the MLL gene. J Natl Cancer Inst 86 : 1678-1680, 1994.
 
4) Godley LA, Larson RA : Therapy-related myeloid leukemia. Semln Oncol 4 : 418-429, 2008.
PubMed
5) Pedersen-Bjergaard J, et al : Alternative genetic pathways and cooperating genetic abnormalities in the pathogenesis of therapy-related myelodysplasia and acute myeloid leukemia. Leukemia 20 : 1943-1949, 2006.
PubMed
6) Pui CH, Relling MV : Topoisomerase II inhibitor-related acute myeloid leukaemia. Br J Haematol 109 : 13-23, 2000.
PubMed
7) Sugita K, et al : High frequency of etoposide (VP-16) -related secondary leukemia in children with non-Hodgkin's lymphoma. Am J Pediatr Hematol Oncol 15 (1) : 99-104, 1993.
PubMed
8) Verdeguer A, et al : Acute nonlymphoblastic leukemia in children treated for acute lymphoblastic leukemia with an intensive regimen including teniposide. Med Pediatr Oncol 20 (1) : 48-52, 1992.
PubMed
9) Pui CH : Epipodophyllotoxin-related acute myeloid leukaemia. Lancet 338 : 1468, 1991.
PubMed
10) Pui CH, et al : Epipodophyllotoxin-related acute myeloid leukemia : a study of 35 cases. Leukemia 12 : 1990-1996, 1995.
PubMed
11) Chen CL, et al : Relationship between cytotoxicity and site-specific DNA recombination after in vitro exposure of leukemia cells to etoposide. J Natl Cancer Inst 88 : 1840-1847, 1996.
PubMed
12) Pui CH, et al : L-asparaginase may potentiate the leukemogenic effect of the epipodophyllotoxins. Leukemia 9 : 1680-1684, 1995.
PubMed
13) Tebbi CK, et al : Dexrazoxane-associated risk for acute myeloid leukemia/myelodysplastic syndrome and other secondary malignancies in pediatric Hodgkin's disease. J Clin Oncol 25 : 493-500, 2007.
PubMed
14) Malkin D, et al : Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. N Engl J Med 326 : 1309-1315, 1992. Erratum in : N Engl J Med 336 (10) : 734, 1997.
 
15) Megonigal MD, et al : t (11 ; 22) (q23 ; q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes. Proc Natl Acad Sci USA 95 : 6413-6418, 1998.
PubMed
16) Naoe T, et al : Molecular analysis of the t (15 ; 17) translocation in de novo and secondary acute promyelocytic leukemia. Leukemia 3 : 287-288, 1997.
 
17) Beaumont M, et al : Therapy-related acute promyelocytic leukemia. J Clin Oncol 21 (11) : 2123-2137, 2003.
PubMed
18) Kern W, et al : Prognosis in therapy-related acute myeloid leukemia and impact of karyotype. J Clin Oncol 22 (12) : 2510-2511, 2004.
PubMed
P.365 掲載の参考文献
1) Yamauchi T, Ueda T : A sensitive new method for clinically monitoring cytarabine concentrations at the DNA level in leukemic cells. Biochem Pharmacol 69 : 1795-1803, 2005.
 
2) Pegg AE, et al : Structure, function, and inhibition of O6-alkylguanine-DNA alkyltransferase. Prog Nucleic Acid Res Mol Biol 51 : 167-223, 1995.
PubMed
3) Yamauchi T, et al : Carmustine-resistant cancer cells are sensitized to temozolomide as a result of enhanced mismatch repair during the development of carmustine resistance. Mol Pharmacol 74 : 82-91, 2008.
PubMed
4) Wiley JS, et al : Cytosine arabinoside transport and metabolism in acute leukemias and T cell lymphoblastic lymphoma. J Clin Invest 75 : 632-642, 1985.
 
5) Richel DJ, et al : Substrate-specific deoxycytidine kinase deficiency in 1-beta-D-arabinofuranosylcytosine-resistant leukemic cells. Cancer Res 50 : 6515-6519, 1990.
PubMed
6) Steuart CD, Burke PJ : Cytidine deaminase and the development of resistance to arabinosyl cytosine. Nat New Biol 233 (38) : 109-110, 1971.
PubMed
7) de Saint Vincent BR, et al : The modulation of the thymidine triphosphate pool of Chinese hamster cells by dCMP deaminase and UDP reductase. Thymidine auxotrophy induced by CTP in dCMP deaminase-deficient lines. J Biol Chem 255 : 162-167, 1980.
 
8) Dicioccio RA, Srivastava BI : Kinetics of inhibition of deoxynucleotide-polymerizing enzyme activities from normal and leukemic human cells by 9-beta-D-arabinofuranosyladenine 5 '-triphosphate and 1-beta-D-arabinofuranosylcytosine 5'-triphosphate. Eur J Biochem 79 : 411-418, 1977.
PubMed
9) Pourquier P, et al : Induction of topoisomerase I cleavage complexes by 1-β-d-arabinofuranosylcytosine (ara-C) in vitro and in ara-C-treated cells. Proc Natl Acad Sci U S A 97 : 1885-1890, 2000.
 
10) Wang S, et al : Agents that down-regulate or inhibit protein kinase C circumvent resistance to 1-beta-D-arabinofuranosylcytosine-induced apoptosis in human leukemia cells that overexpress Bcl-2. Mol Pharmacol 52 : 1000-1009, 1997.
 
11) Nishi R, et al : Combination of guanine arabinoside and Bcl-2 inhibitor YC137 overcomes the cytarabine resistance in HL-60 leukemia cell line. Cancer Sci 104 : 502-507, 2013.
PubMed
12) Yoshio N, et al : Resistance to 9-beta-D-arabinofuranosyl-2-fluoroadenine due to reduced incorporation into DNA from competition by excess deoxyadenosine triphosphate : implications for different sensitivities to nucleoside analogues. Int J Hematol 81 : 405-412, 2005.
PubMed
13) Shigemi H, et al : Novel leukemic cell lines resistant to clofarabine by mechanisms of decreased active metabolite and increased antiapoptosis. Cancer Sci 104 : 732-739, 2013.
PubMed
14) Yamauchi T, et al : Reduced drug incorporation into DNA and antiapoptosis as the crucial mechanisms of resistance in a novel nelarabine-resistant cell line. BMC Cancer 14 : 547, 2014.
 
15) Evans WE, et al : Preponderance of Thiopurine S-Methyltransferase Deficiency and Heterozygosity Among Patients Intolerant to Mercaptopurine or Azathioprine. J Clin Oncol 19 : 2293-2301, 2001.
PubMed
16) Friche E, et al : Decreased DNA Topoisomerase II in Daunorubicin-resistant Ehrlich Ascites Tumor Cells. Cancer Res 51 : 4211-4218, 1991.
 
17) Cabral FR, et al : A mechanism of cellular resistance to drugs that interfere With microtubule assembly. Ann N YAcad Sci 466 : 745-756, 1986.
 
18) Moscow JA, Cowan KH : Multidrug resistance. J Natl Cancer Inst 80 : 14-20, 1983.
 
19) Yamauchi T, et al : Induction of DNA strand breaks is critical to predict the cytotoxicity of gemtuzumab ozogamicin against leukemic cells. Cancer Sci 103 : 1722-1729, 2012.
PubMed
P.371 掲載の参考文献
1) Fransecky L, et al : Outlook on PI3K/AKr/mTOR inhibition in acute leukemia. Mol Cell Ther 3 : 2, 2015.
 
2) Yilmaz OH, et al : Pten dependence distinguishes haematopoietic stem cells from leukaemia-initiating cells. Nature 441 : 475-482, 2006.
PubMed
3) Zhang J, et al : PTEN maintains haematopoietic stem cells and acts in lineage choice and leukaemia prevention. Nature 441 : 518-522, 2006.
PubMed
4) Magee JA, et al : Temporal changes in PTEN and mTORC2 regulation of hematopoietic stem cell self-renewal and leukemia suppression. Stem Cell 11 : 415-428, 2012.
PubMed
5) Hoshii T, et al : mTORC1 is essential for leukemia propagation but not stem cell self-renewal. J Clin Invest 122 : 2114-2129, 2012.
PubMed
6) Hoshii T, et al : Loss of mTOR complex 1 induces developmental blockage in early T-lymphopoiesis and eradicates T-cell acute lymphoblastic leukemia cells. Proc Natl Acad Sci USA 111 : 3805-3810, 2014.
 
7) Holyoake TL, Helgason GV : Do we need more drugs for chronic myeloid leukemia? Immunological Rev 63 : 106-123, 2015.
 
8) Mahon FX, et al : Discontinuation of imatinib in patients with chronic myeloid leukaemia who have maintained complete molecular remission for at least 2 years : the prospective, multicentre Stop Imatinib (STIM) trial. Lancet Oncol 11 : 1029-1035, 2010.
PubMed
9) Ross DM, et al : Safety and efficacy of imatinib cessation for CML patients with stable undetectable minimal residual disease : results from the TWISTER study. Blood 122 : 515-522, 2013.
PubMed
10) Imagawa J, et al ; DADI Trial Group : Discontinuation of dasatinib in patients with chronic myeloid leukaemia who have maintained deep molecular response for longer than 1 year (DADI trial) : a multicentre phase 2 trial. Lancet Haematol 2 : e528-535, 2015.
 
11) Corbin AS, et al : Human chronic myeloid leukemia stem cells are insensitive to imatinib despite inhibition of BCR-ABL activity. J Clin Invest 121 : 396-409, 2011.
PubMed
12) Prost S, et al : Erosion of the chronic myeloid leukaemia stem cell pool by PPARgamma agonists. Nature 525 : 380-383, 2015.
PubMed
13) Courtney KD, et al : The PI3K pathway as drug target in human cancer. J Clin Oncol 8 : 1075-1083, 2010.
 
14) Meric-Bernstam F, Gonzalez-Angulo AM : Targeting the mTOR signaling network for cancer therapy. J Clin Oncol 27 : 2278-2287, 2009.
 
15) Gopal AK, et al : PI3Kdelta inhibition by idelalisib in patients with relapsed indolent lymphoma. N Engl J Med 370 : 1008-1018, 2014.
PubMed
16) Furman RR, et al : Idelalisib and rituximab in relapsed chronic lymphocytic leukemia. N Engl J Med 370 : 997-1007, 2014.
PubMed
17) Witzig TE, et al : The mTORC1 inhibitor everolimus has antitumor activity in vitro and produces tumor responses in patients with relapsed T-cell lymphoma. Blood 126 : 328-335, 2015.
PubMed
18) Hirao A, Hoshii T : Mechanistic/mammalian target protein of rapamycin signaling in hematopoietic stem cells and leukemia. Cancer Sci 104 : 977-982, 2013.
PubMed
19) 平尾敦 : がん基礎生物学-革新的シーズ育成に向けて- 栄養センサーシグナルによる幹細胞制御とがん治療, p12-17, 南山堂, 2013.
 

IV 白血病・骨髄異形成症候群・骨髄増殖性腫瘍のWHO分類

P.379 掲載の参考文献
1) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (ed by Swerdlow SH, et al), IARC, Lyon, 2008.
 
2) Kikushige Y, et al : Self-renewing hematopoietic stem cell is the primary target in pathogenesis of human chronic lymphocytic leukemia. Cancer Cell 20 (2) : 246-259, 2011.
PubMed
3) Klampfl T, et al : Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med 369 (25) : 2379-2390, 2013.
PubMed
4) Nangalia J, et al : Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med 369 (25) : 2391-2405, 2013.
PubMed
5) Maxson JE, et al : Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. N Engl J Med 368 (19) : 1781-1790, 2013.
 
6) Haferlach T, et al : Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 28 (2) : 241-247, 2014.
PubMed
7) 中尾眞二 : 我が国における血液疾患の動向-日本血液学会統計調査委員会報告. 臨床血液 54 (11) : 2179-2185, 2013.
 
P.385 掲載の参考文献
1) WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues (ed by Swerdlow SH, et al), p40-50, LARC press, Lyon, 2008.
 
2) Groffen J, et al : Philadelphia chromosomal breakpoints are clustered within a limited region, bcr, on chromosome 22. Cell 36 (1) : 93-99, 1984.
PubMed
3) Bartram CR, et al : Translocation of c-abl oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia. Nature 306 (5940) : 277-280, 1983.
 
4) Kralovics R, et al : A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 352 (17) : 1779-1790, 2005.
PubMed
5) Baccarani M, et al : European LeukemiaNet recommendations for the management of chronic myeloid leukemia : 2013. Blood 122 (6) : 872-884, 2013.
PubMed
6) Scott LM, et al : JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 356 (5) : 459-468, 2007.
PubMed
7) Pardanani AD, et al : MPL515 mutations in myeloproliferative and other myeloid disorders : a study of 1182 patients. Blood 108 (10) : 3472-3476, 2006.
PubMed
8) Pikman Y, et al : MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med 3 (7) : e270, 2006.
PubMed
9) Klampfl T, et al : Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med 369 (25) : 2379-2390, 2013.
PubMed
10) Nangalia, et al : Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med 369 (25) : 2391-2405, 2013.
PubMed
11) Ceesay MM, et al : The JAK2 V617F mutation is rare in RARS but common in RARS-T. Leukemia 20 (11) : 2060-2061, 2006.
PubMed
12) Maxson JE, et al : Oncogenic CSF3 R Mutations in Chronic Neutrophilic Leukemia and Atypical CML. N Engl J Med 368 (19) : 1781-1790, 2013.
 
13) Jovanovic JV, et al : Low-dose imatinib mesylate leads to rapid induction of major molecular responses and achievement of complete molecular remission in FIP1L1-PDGFRA-positive chronic eosinophilic leukemia. Blood 109 (11) : 4635-4640, 2007.
PubMed
14) Longley, et al : Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis : establishment of clonality in a human mast cell neoplasm. Nat Genet 12 (3) : 312-314, 1996.
 
P.389 掲載の参考文献
1) Bain BJ, et al : Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of. PDGFRA, PDGFRB or FGFR1. In : WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (ed by Swerdlow SH, et al), 4th ed, p 68-73, IARC Press, Lyon, 2008.
PubMed
2) Cools J, et al : A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med 348 : 1201-1214, 2003.
PubMed
3) Pardanani A, et al : FIP1L1-PDGFRA fusion : prevalence and clinicopathologic correlates in 89 consecutive patients with moderate to severe eosinophilia. Blood 104 : 3038-3045, 2004.
PubMed
4) Metzgeroth G, et al : Recurrent finding of the FIP1LI-PDGFRA fusion gene in eosinophilia-associated acute myeloid leukemia and lymphoblastic T-cell lymphoma. Leukemia 21 : 1183-1188, 2007.
 
5) Patterer V, et al : Hematologic malignancies with PCM1-JAK2 gene fusion share characteristics with myeloid and lymphoid neoplasms with eosinephilia and abnormalities of PDGFRA PDGFRB, and FGFR1. Ann Hematol 92 : 759-769, 2013.
PubMed
6) Legrand F, et al : The spectrum of FIP1L1-PDGFRA-associated chronic eosinophilic leukemia : New insights based on a survey of 44 cases. Medecine 92 : e1-e9, 2013.
 
7) Kilon AD, et al : Molecular remission and reversal of myelofibrosis in response to imatinib mesylate treatment in patients with the myeloproliferative variant of hypereosinophilic syndrome. Blood 103 : 473-478, 2004.
 
8) Kilon AD, et al : Relapse following discontinuation of imatinib mesylate therapy for FIP1L1-PDGFRA-positive chronic eosinophilic leukemia : implications for optimal dosing. Blood 110 : 3552-3556, 2007.
 
9) Hochhaus A, et al : Effect of the tyrosine kinase inhibitor nilotinib in patients with hypereosinoohilic syndrome/chronic eosinophilic leukemia : analysis of the phase 2, open-label, single-arm A2101 study. J Cancer Res Clin Oncol 139 : 1985-1993, 2013.
PubMed
10) Cools J, et al : PKC412 overcomes resistance to imatinib in a murine model of FIP1L1-PDGFRA-induced muelopriliferative disease. Cancer Cell 3 : 459-469, 2003.
 
11) Lierman E, et al : Sorafenib is a potent inhibitor of FIP1L1-PDGFRA and the imatinib-resistant FIP1L1-PDGFRA in vitro and in vivo. Blood 106 : 3206-3213, 2005.
 
12) Sadomik I, et al : Identincation of Ponatinib as a potent inhibitor of growth, migration, and activation of neoplastic eosinophils carrying FIP1L1-PDGFRA Exp Hematol 42 : 282-293, 2014.
PubMed
13) Cheah CY, et al : Patients with myeloid malignancies bearing PDGFRB fusion genes achieve durable long-term remissions with imatinib. Blood 123 : 3574-3577, 2014.
PubMed
14) Havelange V, Demoulin JB : Review of current classification, molecular alterations, and tyrosine kinase inhibitor theraoies in myeloproliferative disorders with hypereosinophilia. J Blood Med 4 : 111-121, 2013.
PubMed
15) Pardanani A, et al : Imatinib therapy for hypereosinophilic syndrome and other eosinophilic disorders. Blood 101 : 3391-3397, 2003.
PubMed
16) Rumi E, et al : Efficacy of Ruxolitinib in chronic eosinophilic leukemia associated with a PCM1-JAK2 fution gene. J Clin Oncol 31 : 269-271, 2013.
 
P.395 掲載の参考文献
1) Vardiman JW, et al : Chronic myeloproliferative diseases. In : WHO Classification Tumours of Haematopoietic and Lymphoid Tissues (ed by Jaffe ES, et al), p 15-44, IARC Press, Lyon, 2001.
 
2) Vardiman JW, et al : Myeloproliferative Neoplasms. In : WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (ed by Swerdlow SH, et al), p 32-65, IARC Press, Lyon, 2008.
 
3) Arber DA, et al : The 2016 revision to the World Health Organization classhication of myeloid neoplasms and acute leukemia. Blood 127 : 2391-2405, 2016.
 
4) Zoi K, et al : Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable. Int I Hematol 101 : 229-242, 2015.
PubMed
5) Itzykson R, et al : Prognostic score including gene mutations in chronic myelomonocytic leukemia. J Clin Oncol 31 : 2428-2436, 2013.
PubMed
6) Pardanani A, et al : CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. Leukemia 27 : 1870-1873, 2013.
PubMed
7) Breccia M, et al : Identification of risk factors in atypical chronic myeloid leukemia. Haematologica 91 : 1566-1568, 2006.
PubMed
8) Emanuel PD, et al : Selective hypersensitivity to granulocyte-macrophage colony-stimulating factor by juvenile chronic myeloid leukemia hematopoietic progenitors. Blood 77 : 925-929, 1991.
PubMed
9) 坂下一夫 : 若年性骨髄単球性白血病 (JMML) -病態解明と治療の進歩-. 臨床血液 57 : 137-145, 2016.
 
10) Niemeyer CM, et al : Chronic myelomonocytic leukemia in childhood : aretrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS). Blood 89 : 3534-3543, 1997.
 
11) Yoshida K, et al : Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 478 : 64-69, 2011.
PubMed
12) Broseus J, et al : Age, JAK2V617F and SF3B1 mutations are the main predicting factors for survival in refractory anaemia with ring sideroblasts and marked thrombocytosis. Leukemia 27 : 1826-1831, 2013.
PubMed
13) Broseus J, et al : Low rate of calreticulin mutations in refractory anaemia with ring sideroblasts and marked thrombocytosis. Leukemia 28 : 1374-1376, 2014.
PubMed
14) Broseus J, et al : Clinical features and course of refractory anemia with ring sideroblasts associated with marked thrombocytosis. Haematologica 97 : 1036-1041, 2012.
PubMed
P.401 掲載の参考文献
1) Malcovati L, et al : Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia. Blood 124 : 1513-1521, 2014.
PubMed
2) Bennett JM, et al : Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 51 : 189-199, 1982.
PubMed
3) Harris NL, et al : World Health Organization classification of neoplastic diseases of the hematopoietic and lymphoid tissues : report of the Clinical Advisory Committee meeting-Airlie House, Virginia, November 1997. J Clin Oncol 17 : 3835-3849, 1999.
PubMed
4) Brunning RD, et al : Myelodysplastic syndromes. In : WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues (ed by Swerdlow SH, et al), 1st ed, p 87-107, IARC Press, Lyon, 2008.
 
5) Baumann I, et al : Childhood myelodysplastic syndrome. In : World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues (ed by Swerdlow SH, et al), 4th ed, p 104-107, IARC Press, Lyon, 2008.
 
6) Hasle H, et al : The International Prognostic Scoring System (IPSS) for childhood myelodysplastic syndrome (MDS) and juvenile myelomonocytic leukemia (JMML). Leukemia 18 : 2008-2014, 2004.
PubMed
7) List A, et al : Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. N Engl J Med 355 : 1456-1465, 2006.
PubMed
8) Haferlach T, et al : Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia 28 : 241-247, 2014.
PubMed
9) Yoshida K, et al : Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 478 : 64-69, 2011.
PubMed
10) Papaemmanuil E, et al : Somatic SF3B1 mutation in myelodysplasia with ringed sideroblasts. N Engl J Med 365 : 1384-1395, 2011.
 
11) Arber DA, Hasserjian RP : Reclassifying myelodysplastic syndromes : what's where in the new WHO and why. Hematology Am Soc Hematol Educ Program 2015 : 294-298, 2015.
PubMed
12) Parmentier S, et al : Assessment of dysplastic hematopoiesis : lessons from healthy bone marrow donors, Haematologica 97 : 723-730, 2012.
PubMed
13) Matsuda A, et al : Improvement of criteria for refractory cytopenia with multilineage dysplasia according to the WHO classification based on prognostic significance of morphological features in patients with refractory anemia according to the FAB classification. Leukemia 21 : 678-686, 2007.
 
14) Greenberg PL, et al : Revised international prognostic scoring system for myelodysplastic syndromes. Blood 120 : 2454-2465, 2012.
PubMed
15) Germing U, et al : Survival, prognostic factors and rates of leukemic transformation in 381 untreated patients with MDS and del (5q) : a multicenter study. Leukemia 26 : 1286-1292, 2012.
PubMed
P.407 掲載の参考文献
1) Bennett JM, et al : Proposals for the classification of the acute leukaemias. French-American-British (FAB) co-operative group. Br J Haematol 33 : 451-458, 1976.
PubMed
2) Bennett JM, et al : Proposed reVised criteria for the classification of acute myeloid leukemia. A report of the French-American-British Cooperative Group. Ann Intern Med 103 : 620-625, 1985.
PubMed
3) WHO Classification of Tumours. Pathology and Genetics of Tumours of Haematopoietic and Lymphoid Tissues (ed by Jaffe ES, et al), IARC, Lyon, 2001.
 
4) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (ed by Swerdlow SH, et al), Fourth Edition, IARC, Lyon, 2008.
 
5) Gilliland DG : Molecular genetics of human leukemias : new insights into therapy. Semin Hematol 39 (4 Suppl 3) : 6-11, 2002.
 
6) Kelly LM, Gilnland DG : Genedcs of myeloid leukemias. Annu Rev Genomics Hum Genet 3 : 179-198, 2002.
 
7) Dohner K, et al : Mutant nucleophosmin (NPM1) predicts favorable prognosis in younger adults with acute myeloid leukemia and normal cytogenetics : interaction with other gene mutations. Blood 106 : 3740-3746, 2005.
PubMed
8) Marcucci G, et al : Molecular genetics of adult acute myeloid leukemia : prognostic and therapeutic implications. J Clin Oncol 29 : 475-486, 2011.
PubMed
9) Green CL, et al : Prognostic significance of CEBPA mutations in a large cohort of younger adult patients with acute myeloid leukemia : impact of double CEBPA mutations and the interaction with FLT3 and NPM1 mutations. J Clin Oncol 28 : 2739-2747, 2010.
 
10) Wandt H, et al : MLD according to the WHO classification in AML has no correlation with age and no independent prognostic relevance as analyzed in 1766 patients. Blood 111 : 1855-1861, 2008.
 
11) Walter RB, et al : Significance of FAB subclassification of "acute myeloid leukemia, NOS" in the 2008 WHO classification : analysis of 5848 newly diagnosed patients. Blood 121 : 2424-2431, 2013.
PubMed
P.411 掲載の参考文献
1) Borowitz MJ, et al : Acute leukaemias of ambiguous lineage. In : WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (ed by Swerdlow SH, et al), p 150-155, WHO Press, Geneva, 2008.
 
2) Matutes E, et al : Definition of acute biphenotypic leukemia Haematologica 82 : 64-66, 1997.
PubMed
3) Petrella T, et al : Blastic NK-cell lymphomas (agranular CD4+ CD56+ hematodermic neoplasms) : a review. Am J Clin Pathol 123 : 662-675, 2005.
PubMed
P.416 掲載の参考文献
1) Swerdlow SH, et al : WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. IARC, Lyon, 2008.
 
2) Lin P, et al : Precursor B-cell lymphoblastic lymphoma : a predominantly extranodal tumor with low propensity for leukemic involvement. Am J Surg Pathol 24 : 1480-1490, 2000.
PubMed
3) Bernard A, et al : Non-T, non-B lymphomas are rare in childhood and associated with cutaneous tumor. Blood 59 : 549-554, 1982.
PubMed
4) Maitra A, et al : Precursor B-cell lymphoblastic lymphoma. A study of nine cases lacking blood and bone marrow involvement and review of the literature. Am J Clin Pathol 115 : 868-875, 2001.
PubMed
5) Sander CA, et al : Mediastinal lymphoblastic lymphoma with an immature B-cell immunophenotype. Am J Surg Pathol 16 : 300-305, 1992.
PubMed
6) van der Velden VH, et al : TCRB gene rearrangements in childhood and adult precursor-B-ALL : frequency, applicability as MRD-PCR target, and stability between diagnosis and relapse. Leukemia 18 : 1971-1980, 2004.
PubMed
7) Roberts KG, et al : Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia. N Engl J Med 371 : 1005-1015, 2014.
PubMed
8) Harrison CJ, et al : An international study of intrachromosomal amplification of chromosome 21 (iAMP21) : cytogenetic characterization and outcome. Leukemia 28 : 1015-1021, 2014.
 
9) Pui CH, et al : Acute lymphoblastic leukemia. N Engl J Med 350 : 1535-1548, 2004.
PubMed
10) Moorman AV, et al : Karyotype is an independent prognostic factor in adult acute lymphoblastic leukemia (ALL) : analysis of cytogenetic data from patients treated on the Medical Research Council (MRC) UKALLXII/Eastern Cooperative Oncology Group (ECOG) 2993 trial. Blood 109 : 3189-3197, 2007.
PubMed
11) Hrusak O, Porwit-MacDonald A : Antigen expression patterns reflecting genotype of acute leukemias. Leukemia 16 : 1233-1258, 2002.
PubMed
12) Parkin JL, et al : Acute leukemia associated with the t (4 ; 11) chromosome rearrangement : ultrastructural and immunologic characteristics. Blood 60 : 1321-1331, 1982.
 
13) Rubnitz JE, et al : Prospective analysis of TEL gene rearrangements in childhood acute lymphoblastic leukemia : a Children's Oncology Group study. J Clin Oncol 26 : 2186-2191, 2008.
 
14) Wiemels JL, et al : Prenatal origin of acute lymphoblastic leukaemia in children. Lancet 354 : 1499-1503, 1999.
PubMed
15) Tsuzuki S, et al : Genetic abnormalities involved in t (12 ; 21) TEL-AML1 acute lymphoblastic leukemia : analysis by means of array-based comparative genomic hybridization. Cancer Sci 98 : 698-706, 2007.
 
16) Paulsson K, et al : The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia. Nat Genet 47 : 672-676, 2015.
PubMed
17) Kaspers GJ, et al : Favorable prognosis of hyperdiploid common acute lymphoblastic leukemia may be explained by sensitivity to antimetabolites and other drugs : results of an in vitro study. Blood 85 : 751-756, 1995.
 
18) Nachman JB, et al : Outcome of treatment in children with hypodiploid acute lymphoblastic leukemia. Blood 110 : 1112-1115, 2007.
PubMed
19) Hanison CJ, et al : Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia. Br J Haematol 125 : 552-559, 2004.
 
20) Holmfeldt L, et al : The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet 45 : 242-252, 2013.
PubMed
21) Grimaldi JC, Meeker TC : The t (5 ; 14) chromosomal translocation in a case of acute lymphocytic leukemia joins the interleukin-3 gene to the immunoglobulin heavy chain gene. Blood 73 : 2081-2085, 1989.
 
22) Teachey DT, et al : Predicting relapse risk in childhood acute lymphoblastic leukaemia. Br J Haematol 162 : 606-620, 2013.
PubMed
23) Fischer U, et al : Genomics and drug profiling of fatal TCF3-HLF-positive acute lymphoblastic leukemia identifies recurrent mutation patterns and therapeutic options. Nat Genet 47 : 1020-1029, 2015.
PubMed
24) Coustan-Smith E, et al : Early T-cell precursor leukaemia : a subtype of very high-risk acute lymphoblastic leukaemia. Lancet 10 : 147-156, 2009.
 
25) Inukai T, et al : Clinical significance of early T-cell precursor acute lymphoblastic leukaemia : results of the Tokyo Children's Cancer Study Group Study L99-15. Br J Haematol 156 : 358-365, 2012.
 
26) Zhang J, et al : The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 481 : 157-163, 2012.
 
P.421 掲載の参考文献
1) Chihara D, et al : Differences in incidence and trends of haematological malignancies in Japan and the United States. Br J Haematol 164 : 536-545, 2014.
PubMed
2) 青木定夫 : 慢性リンパ性白血病 : 最新の知見. 臨床血液 48 : 1378-1387, 2007.
 
3) Hallek M, et al : Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia : a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer Institute-Working Group 1996 guidelines. Blood 111 : 5446-5456, 2008.
 
4) Muller HK, et al : Chronic lymphocytic leukaemia/small lymphocytic lymphoma. In : WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, ed 4 (ed by Swerdlow SH, et al), p 180-182, Internal Agency for Research on Cancer, Lyon, 2008.
 
5) Bennett, et al : Proposals for the classification of chronic (mature) Band T lymphoid leukaemias. J Clin Pathol 42 : 567-584, 1989.
 
6) 青木定夫 : 慢性リンパ性白血病. 臨床血液 55 : 213-222, 2014.
 
7) Marionneaux S, Smith L : Digital imaging of peripheral blood identifies atypical chronic lymphocytic leukemia. Blood 124 : 2748, 2014.
PubMed
8) Dighiero G, Hamblin TJ : Chronic lymphocytic leukaemia. Lancet 371 : 1017-1029, 2008.
PubMed
9) Matutes E, et al : Diagnostic issues in chronic lymphocytic leukaemia (CLL). Best Pract Res Clin Haematol 23 : 3-20, 2010.
PubMed
10) Challagundla P, et al : Differential expression of CD200 in B-cell neoplasms by flow cytometry can assist in diagnosis, subclassification, and bone marrow staging. Am J Clin Pathol 142 : 837-844, 2014.
 
11) Menter T, et al : LEF1 : a highly specific marker for the diagnosis of chronic lymphocytic B cell leukaemia/small lymphocytic B cell lymphoma. J Clin Pathol 68 : 473-478. 2015.
PubMed
12) 青木定夫 : 慢性リンパ性白血病 : 診断と遺伝子変異. 臨床血液 55 : 1981-1988, 2014.
 
13) Rodriguez-Vicente AE, et al : Chronic lymphocytic leukemia : a clinical and molecular heterogenous disease. Cancer Genet 206 : 49-62, 2013.
PubMed
14) Guieze R, Wu CJ : Genomic and epigenomic heterogeneity in chronic lymphocytic leukemia. Blood 126 : 445-453, 2015.
PubMed
15) Jain N, O'Brien S : Initial treatment of CLL : integrating biology and functional status. Blood 126 : 463-470, 2015.
PubMed
P.426 掲載の参考文献
1) Campo E, et al : B-cell prolymphocytic leukemia In : WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th ed (ed by Swedlow SH, et al), p 183-184, IARC, Lyon, 2008.
 
2) Galton DA, et al : Prolymphocytic leukaemia Br J Haematol 27 : 7-23, 1974.
PubMed
3) Melo JV, et al : The relationship between chronic lymphocytic leukaemia and prolymphocytic leukaemia. 1. Clinical and laboratory features of 300 patients and characterization of an intermediate group. Br J Haematol 63 : 377-387, 1986.
 
4) Ruchlemer R, et al : B-prolymphocytic leukaemia with t (11 ; 14) revisited : a splenomegaUc form of mantle cell lymphoma evolving with leukaemia. Br J Haematol 125 (3) : 330-336, 2004.
 
5) Matutes E, et al : The immunological profile of B-cell disorders and proposal of a scoring system for the diagnosis of CLL Leukemia 8 : 1640-1645, 1994.
PubMed
6) Lens D, et al : p53 abnormalities in B-cell prolymphocytic leukemia. Blood 89 : 2015-2023, 1997.
 
7) Shvidel L, et al : B-cell prolymphocytic leukemia : a survey of 35 patients emphasizing heterogeneity, prognostic factors and evidence for a group with an indolent course. Leuk Lymphoma 33 : 169-179, 1999.
PubMed
8) Hercher C, et al : A multicentric shldy of 41 cases of B-prolymphocytic leukemia : two evolutive forms. Leuk Lymphoma 42 : 981-987, 2001.
PubMed
9) Del Giudice I, et al : IgVH genes mutation and usage, ZAP-70 and CD38 expression provide new insights on B-cell prolymphocytic leukemia (B-PLL). Leukemia 20 : 1231-1237, 2006.
 
10) Davi F, et al : High frequency of somatic mutations in the VH genes expressed in prolymphocytic leukemia. Blood 88 : 3953-3961, 1996.
PubMed
11) Del Giudice I, et al : B-cell prolymphocytic leukemia and chronic lymphocytic leukemia have distinctive gene expression signatures. Leukemia 23 : 2160-2167, 2009.
PubMed
12) van der Velden VH, et al : B-cell prolymphocytic leukemia : a specific subgroup of mantle cell lymphoma. Blood 124 : 412-419, 2014.
PubMed
13) Dearden C : How I treat prolymphocytic leukemia. Blood 120 (3) : 538-551, 2012.
 
14) Eyre TA, et al : Idelalisib-Rituximab induces clinical remissions in patients with TP53 disrupted B cell prolymphocytic leukaemia. Br J Haematol, 2016. [Epub ahead of print]
 
15) Dearden C : B-and T-cell prolymphocytic leukemia : antibody approaches. Hematology Am Soc Hematol Educ Program 2012 : 645-651, 2012.
 

V 白血病の予後因子

P.435 掲載の参考文献
1) Grimwade D, et al : Refinement of cytogenetic classification in acute myeloid leukemia : determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood 116 : 354-365, 2011.
 
2) Byrd JC, et al : Pretreatment cytogenetic abnormalties are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia : results from Cancer and Leukemia Group B (CALGB 8461). Blood 100 : 4325-4336, 2002.
 
3) Slovak ML, et al : Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia : a Southwest Oncology Group/Eastern Cooperative Oncology Group study. Blood 96 : 4075-4083, 2000.
 
4) Breems DA, et al : Monosomal karyotype in acute myeloid leukemia : a better indicator of poor prognosis than a complex karyotype. J Clin Oncol 26 : 4791-4797, 2008.
PubMed
5) Medeiros BC, et al : Prognostic impact of monosomal karyotype in young adult and elderly acute myeloid leukemia : the Southwest Oncology Group (SWOG) experience. Blood 116 : 2224-2228, 2010.
 
6) Dohner H, et al : Diagnosis and management of acute myeloid leukemia in adults : recommendation from an intemational expert panel, on behalf of the European LeukemiaNet. Blood 115 : 453-474, 2010.
 
7) Rollig C, et al : Long-term prognosis of acute myeloid leukemia according to the new genetic risk classification of the European LeukemiaNet recommendations : evaluation of the proposed reporting system. J Clin Oncol 29 : 2758-2765, 2011.
 
8) Patel JP, et al : Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 366 : 1079-1089, 2012.
PubMed
9) Marcucci G, et al : Epigenetics meets genetics in acute myeloid leukemia : clinical impact of a novel seven-gene score. J Clin Oncol 32 : 548-556, 2013.
 
10) Mancini M, et al : A comprehensive genetic classification of adult acute lymphoblastic leukemia (ALL) : analysis of the GIMEMA O496 protocol. Blood 105 : 3434-3441, 2005.
 
11) Den Boer ML, et al : A subtype of childhood acute lymphoblastic keukaemia with poor treatment outcome : a genome-wide classification study. Lancet Oncol 10 (2) : 125-134, 2009.
PubMed
12) Roberts KG, et al : Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia. N Engl J Med 371 (11) : 1005-1015, 2014.
PubMed
13) Fabahus A, et al : Impact of cytogenetic aberrations at diagnosis on prognosis of CML : long-term observation of 1151 patients from the randomized CML Study IV. Blood 118 : 6760-6768, 2011.
PubMed
14) National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. version 3, 2014.
 
15) Hallek M : Chronic lymphocytic leukemia : 2015 Update on diagnosis, risk stratification, and treatment. Am J Hematol 90 : 447-460, 2015.
 
P.441 掲載の参考文献
1) Orfao A, et al : Clinically useful information provided by the flow cytometric immunophenotyping of hematological malignancies : current status and future directions. Clin Chem 45 : 1708-1717, 1999.
PubMed
2) Schabath R, et al : The prognostic significance of antigen expression in leukaemia. Best Pract Res Clin Haematol 16 : 613-628, 2003.
PubMed
3) Mason KD, et al : The immunophenotype of acute myeloid leukemia : is there a relationship With prognosis? Blood Rev 20 : 71-82, 2006.
 
4) Repp R, et al : Immunophenotyping is an independent factor for risk stratification in AML. Cytometry B Clin Cytom 53 : 11-19, 2003.
PubMed
5) Legrand O, et al : The immunophenotype of 177 adults with acute myeloid leukemia : proposal of a prognostic score. Blood 96 : 870-877, 2000.
PubMed
6) Murray CK, et al : CD56 expression in acute promyelocytic leukemia : a possible indicator for poor treatment outcome? J Clin Oncol 17 : 293-297, 1999.
PubMed
7) Suzuki R, et al : The clinical characteristics of CD7+ CD56+ acute myeloid leukemias other than M0. Int J Hematol 91 : 303-309, 2010.
PubMed
8) Thomas DA, et al : Prognostic significance of CD20 expression in adults with de novo precursor-B lineage acute lymphoblastic leukemia. Blood 113 : 6330-6337, 2009.
PubMed
9) Borowitz MJ, et al : Prognostic significance of fluorescence intensity of surface marker expression in childhood B-precursor acute lymphoblastic leukemia. a Pediatric Oncology Group study. Blood 89 : 3960-3966, 1997.
 
10) Jeha S, et al : Prognostic significance of CD20 expression in childhood B-cell precursor acute lymphoblastic leukemia. Blood 108 : 3302-3304, 2006.
PubMed
11) Bachanova V, et al : Allogeneic hematopoietic stem cell transplantation overcomes the adverse prognostic impact of CD20 expression in acute lymphoblastic leukemia. Blood 117 : 5261-5263, 2011.
PubMed
12) Cario G, et al : High CD45 surface expression determines relapse risk in children with precursor B-cell and T-cell acute lymphoblastic leukemia treated according to the ALL-BFM 2000 protocol. Hematologica 99 : 103-110, 2014.
 
13) Inaba T, et al : Adult and pediatric cases of B-cell lymphoblastic leukemia differ in the clinical significance of CD66c expression. Lab Hematol 19 : 6-7, 2013.
 
14) Bosch F, Montserrat F : Refining prognostic factors in chronic lymphocytic leukemia. Rev Clin Exp Hematol 6 : 335-349 ; discussion 449-450, 2002.
 
15) Kamihira S, et al : Phenotypic diversity and prognosis of adult T-cell leukemia. Leuk Res 16 : 435-441, 1992.
PubMed
P.446 掲載の参考文献
1) Kalina T, et al : Quality assessment program for Euroflow protocols : summary results of four-year (2010-2013) quality assurance rounds. Cytometry A 87 : 145-156, 2015.
PubMed
2) Borowitz MJ, et al : Clinical significance of minimal residual disease in childhood acute lymphoblastic leukemia and its relationship to other prognostic factors : a Children's Oncology Group study. Blood 111 : 5477-5485, 2008.
 
3) Pui CH, et al : Treating childhood acute lymphoblastic leukemia without cranial irradiation. N Engl J Med 360 : 2730-2741, 2009.
PubMed
4) Campana D, et al : The immunologic detection of minimal residual disease in acute leukemia. Blood 76 : 163-171, 1990.
PubMed
5) Campana D, Pui CH : Detection of minimal residual disease in acute leukemia : methodologic advances and clinical significance. Blood 85 : 1416-1434, 1995.
PubMed
6) Campana D, Coustan-Smith E : Measurements of treatment response in childhood acute leukemia. Korean J Hematol 47 : 245-254, 2012.
PubMed
7) Gaipa G, et al : Detection of minimal residual disease in pediatric acute lymphoblastic leukemia. Cytometry B Clin Cytom 84 : 359-369, 2013.
PubMed
8) Cave H, et al : Clinical significance of minimal residual disease in childhood acute lymphoblastic leukemia. European Organization for Research and Treatment European of Cancer Childhood-Leukemia Cooperative Group. N Engl J Med 339 : 591-598, 1998.
 
9) Coustan-Smith E, et al : Immunological detection of minimal residual disease in children with acute lymphoblastic leukaemia. Lancet 351 : 550-554, 1998.
PubMed
10) Pui CH, et al : Clinical utility of sequential minimal residual disease measurements in the context of risk-based therapy in childhood acute lymphoblasic leukemia : a prospective study. Lancet Oncol 16 : 465-474, 2015.
 
11) Bassan R, et al : Improved risk classification for risk-specific therapy based on the molecular study of minimal residual disease (MRD) in adult acute lymphoblastic leukemia (ALL). Blood 113 : 4153-4162, 2009.
PubMed
12) Kikuchi M, et al : Clinical significance of minimal residual disease in adult acute lymphoblastic leukemia. Int J Hematol 92 : 481-489, 2010.
PubMed
13) Bjdrklund E, et al : CD34+ cell subpopulation detected by 8-color flow cytometry in bone marrow and in peripheral blood stem cell collections : Application for MRD detection in leukemia patients. Int J Hematol 90 : 292-302, 2009.
 
14) Loken M, et al : Residual disease detected by multidimensional flow cytometery signifies high relapse risk in patients with de novo acute myeloid leukemia : a report from Children's Oncology Group. Blood 120 : 1581-1588, 2012.
 
P.452 掲載の参考文献
1) Kawasald ES, et al : Diagnosis of chronic myeloid and acute lymphocytic leukemias by detection of leukemia-specific mRNA sequences amplified in vitro. Proc Natl Acad Sci USA 85 (15) : 5698-5702, 1988.
 
2) Miyamura K, et al : Prediction of clinical relapse after bone-marrow transplantation by PCR for Philadelphia-positive acute lymphoblastic leukaemia. Lancet 336 (8719) : 890, 1990.
PubMed
3) Miyamura K, et al : Detection of Philadelphia chromosome-positive acute lymphoblastic leukemia by polymerase chain reaction : possible eradication of minimal residual disease by marrow transplantation. Blood 79 (5) : 1366-1370, 1992.
PubMed
4) Miyamura K, et al : Long persistent bcr-abl positive transcript detected by polymerase chain reaction after marrow transplant for chronic myelogenous leukemia without clinical relapse : a study of 64 patients. Blood 81 (4) : 1089-1093, 1993.
PubMed
5) Miyamura K, et al : Minimal residual disease after bone marrow transplantation for chronic myelogenous leukemia and implications for graft-versus-leukemia effect : a review of recent results. Bone Marrow Transplant 14 (2) : 201-209, 1994.
PubMed
6) Baccarani M, et al : European LeukemiaNet recommendations for the management of chronic myeloid leukemia : 2013. Blood 122 (6) : 872-884, 2013.
PubMed
7) Saldanha J, et al : Characterization of a reference material for BCR-ABL (M-BCR) mRNA quantitation by real-time amplification assays : towards new standards for gene expression measurements. Leukemia 21 (7) : 1481-1487, 2007.
PubMed
8) Miyamura K, et al : Evaluation of clinical performance of the major BCR-ABL mRNA detection kit which enables conversion to international standard scale using the reference material calibrator. Rinsho Ketsueki 55 (5) : 534-540, 2014.
PubMed
9) Melo JV : The diversity of BCR-ABL fusion proteins and their relationship to leukemia phenotype. Blood 88 (7) : 2375-2384, 1996.
PubMed
10) Wassmann B, et al : Early molecular response to posttransplantation imatinib determines outcome in MRD+ Philadelphia-positive acute lymphoblastic leukemia (Ph+ ALL). Blood 106 (2) : 458-463, 2005.
PubMed
11) Bruggemann M, et al : Has MRD monitoring superseded other prognostic factors in adult ALL? Blood 120 (23) : 4470-4481, 2012.
PubMed
12) Nishiwaki S, et al : Impact of MRD and TKI on allogeneic hematopoietic cell transplantation for Ph+ ALL : a study from the adult ALL WG of the JSHCT. Bone Marrow Transplant 51 (1) : 43-50, 2016.
PubMed
13) Chalandon Y, et al : Randomized study of reduced-intensity chemotherapy combined with imatinib in adults with Ph-positive acute lymphoblastic leukemia. Blood 125 (24) : 3711-3719, 2015.
 
14) Cheson BD, et al : Revised recommendations of the International Working Group for Diagnosis, Standardization of Response Criteria, Treatment Outcomes, and Reporting Standards for Therapeutic Trials in Acute Myeloid Leukemia. J Clin Oncol 21 (24) : 4642-4649, 2003.
 
15) Tobal K, Liu Yin JA : Diagnosis and monitoring of AML1-MTG8 (ETO) -positive acute myeloid leukemia by qualitative and real-time quantitative RT-PCR Methods Mol Med 125 : 149-161, 2006.
PubMed
16) Kayser S, et al : Minimal residual disease-directed therapy in acute myeloid leukemia. Blood 125 (15) : 2331-2335, 2015.
PubMed
P.458 掲載の参考文献
1) Sugiyama H : WT1 (Wilms' Tumor Gene 1) : biology and cancer immunotherapy. Jpn J Clin Oncol 40 (5) : 377-387, 2010.
PubMed
2) Inoue K, et al : WT1 as a new prognostic factor and a new marker for the detection of minimal residual disease in acute leukemia. Blood 84 (9) : 3071-3079, 1994.
 
3) 宮脇修一ほか : . 急性骨髄性白血病 (AML) 191例の臨床経過とWT1 mRNAの発現量 全国23施設による共同研究. 臨床血液 46 (12) : 1279-1287, 2005.
 
4) Kitamura K, et al : Clinical usefulness of WT1 mRNA expression in bone marrow detected by a new WT1 mRNA assay kit for monitoring acute myeloid leukemia : a comparison with expression of WT1 mRNA in peripheral blood. Int J Hematol 103 : 53-62, 2016.
PubMed
5) Shimada A, et al : High WT1 mRNA expression after induction chemotherapy and FLT3-ITD have prognostic impact in pediatric acute myeloid leukemia : a study of the Japanese Childhood AML Cooperative Study Group. Int J Hematol 96 (4) : 469-476, 2012.
 
6) Miyawaki S, et al : Prognostic potential of detection of WT1 mRNA level in peripheral blood in adult acute myeloid leukemia. Leuk Lymphoma 51 (10) : 1855-1861, 2010.
PubMed
7) 北村邦朗ほか : 急性骨髄性白血病における末梢血及び骨髄液WT1 mRNAモニタリングの意義. 臨床血液 51 (12) : 1748-1755, 2010.
 
8) Shibasaki Y, et al : The association of level of reduction of Wilms' tumor gene 1 mRNA transcript in bone marrow and outcome in acute myeloid leukemia patients. Leuk Res 39 (6) : 667-671, 2015.
PubMed
9) Yamauchi T, et al : Detectable Wilms' tumor-1 transcription at treatment completion is associated with poor prognosis of acute myeloid leukemia : a single institution's experience. Anticancer Res 33 (8) : 3335-3340, 2013.
PubMed
10) Tamaki H, et al : The Wilms' tumor gene WT1 is a good marker for diagnosis of disease progression of myelodysplastic syndromes. Leukemia 13 (3) : 393-399, 1999.
PubMed
11) Cilloni D, et al : Significant correlation between the degree of WT1 expression and the International Prognostic Scoring System Score in patients with myelodysplastic syndromes. J Clin Oncol 21 (10) : 1988-1995, 2003.
PubMed
12) Tamura H, et al : Prognostic significance of WT1 mRNA and anti-WT1 antibody levels in peripheral blood in patients with myelodysplastic syndromes. Leuk Res 34 (8) : 986-990, 2010.
PubMed
13) Yamauchi T, et al : Wilms' tumor-1 transcript in peripheral blood helps diagnose acute myeloid leukemia and myelodysplastic syndrome in patients with pancytopenia. Anticancer Res 32 (10) : 4479-4483, 2012.
PubMed
14) Ueda Y, et al : Clinical evaluation of WT1 mRNA expression levels in peripheral blood and bone marrow in patients with myelodysplastic syndromes. Leuk Lymphoma 54 (7) : 1450-1458, 2013.
PubMed
15) Tamaki H, et al : Different kmetics of WT1 and PML-RARalpha gene expression levels during remission induction therapy with all-trans retinoic acid alone in acute promyelocytic leukemia. Int J Hematol 84 (5) : 468-470, 2006.
PubMed
P.462 掲載の参考文献
1) Faham M, et al : Deep-sequencing approach for minimal residual disease detection in acute lymphoblastic leukemia. Blood 120 : 5173-5180, 2012.
PubMed
2) Ladetto M, et al : Next-generation sequencing and real-time quantitative PCR for minimal residual disease detection in B-cell disorders. Leukemia 28 : 1299-1307, 2014.
 
3) Martinez-Lopez J, et al : Prognostic value of deep sequencing method for minimal residual disease detection in multiple myeloma. Blood 123 : 3073-3079, 2014.
PubMed
4) Logan AC, et al : Immunoglobulin and T cell receptor gene high-throughput sequencing quantifies minimal residual disease in acute lymphoblastic leukemia and predicts post-transplantation relapse and survival. Biol Blood Marrow Transplant 20 : 1307-1313, 2014.
 
5) Pulsipher MA, et al : IgH-V (D) J NGS-MRD measurement pre- and early post-allotransplant defines very low-and very high-risk ALL patients. Blood 125 : 3501-3508, 2015.
 
6) Logan AC, et al : Minimal residua1 disease quantification using consensus primers and high-throughput IGH sequencing predicts post-transplant relapse in chronic lymphocytic leukemia. Leukemia 27 : 1659-1665, 2013.
PubMed
7) 関屋由子ほか : 小児ALLにおける次世代シーケンサーを用いた造血幹細胞移植前後の微小残存病変の検討. 第38回本造血細胞移植学会総会抄録 WS4-2, 2016.
 
8) Hokland P, et al : Advancing the Minimal Residual Disease Concept in Acute Myeloid Leukemia. Semin Hematol 52 : 184-192, 2015.
PubMed
9) Ommen HB : Monitoring minimal residual disease in acute myeloid leukaemia : a review of the current evolving strategies. Ther Adv Hematol 7 : 3-16, 2016.
PubMed
10) Salipante SJ, et al : Detection of minimal residual disease in NPM1-mutated acute myeloid leukemia by next-generation sequencing. Mod Pathol 27 : 1438-1446, 2014.
PubMed
11) Kohlmann A, et al : Monitoring of residual disease by next-generation deep-sequencing of RUNX1 mutations can identify acute myeloid leukemia patients with resistant disease. Leukemia 28 : 129-137, 2014.
PubMed
12) Thompson PA, Wierda WG : Eliminating minimal residual disease as a therapeutic end point : working toward cure for patients with CLL. Blood 127 : 279-286, 2016.
PubMed
13) van Dongen JJ, et al : Minimal residual disease diagnostics in acute lymphoblastic leukemia : need for sensitive, fast, and standardized technologies. Blood 125 : 3996-4009, 2015.
PubMed
P.467 掲載の参考文献
1) 栗山一孝ほか : JALSGにおけるAMLの化学療法-スコアリングシステムを用いた予後判定-. 臨床血液 39 (2) : 98-102, 1998.
 
2) Dohner H, et al : European Leukemia-Net. Diagnosis and management of acute myeloid leukemia in adults : recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood 115 : 453-474, 2010.
 
3) NCCN腫瘍学臨床診療ガイドライン急性骨髄性白血病 2014年第2版. [https://www.tri-kobe.org/nccn/guideline/hematologic/japanese/aml.pdf]
 
4) Byrd JC, et al : Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia : results from Cancer and Leukemia Group B (CALGB 8461). Blood 100 (13) : 4325-4336, 2002.
 
5) Schaich M, et al : Prognosis of acute myeloid leukemia patients up to 60 years of age eXhibiting trisomy 8 within a non-complex karyotype : individual patient data-based meta-analysis of the German Acute Myeloid Leukemia Intergroup. Haematologica 92 (6) : 763-770, 2007.
PubMed
6) Grimwade D, et al : Refinement of cytogenetic classification in acute myeloid leukemia : determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood 116 (3) : 354-365, 2010.
PubMed
7) Schlenk RF, et al : Mutation and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med 358 : 1909-1918, 2008.
PubMed
8) Pastore F, et al : Combined molecular and clinical prognostic index for relapse and survival in cytogenetically normal acute myeloid leukemia. J Clin Oncol 32 (15) : 1586-1594, 2014.
PubMed
9) Schlenk RF, et al : Differential impact of allelic ratio and insertion site in FLT3-ITD-positive AML with respect to allogeneic transplantation. Blood 124 (23) : 3441-3449, 2014.
PubMed
10) Kurosawa S, et al : Decision analysis of post-remission therapy in cytogenetically intermediate-risk AML : The impact of FLT3-ITD, NPM1, and CEBPA Biol Blood Marrow Transplant, 2016. [Epub ahead of print]
 
11) Wakita S, et al : Complex molecular genetic abnormalities involving three or more genetic mutations are important prognostic factors for acute myeloid leukemia. Leukemia 30 (3) : 545-554, 2016.
PubMed
12) Marcucci G, et al : Age-related prognostic impact of different types of DNMT3A mutations in adults with primary cytogenetically normal acute myeloid leukemia. J Clin Oncol 30 (7) : 742-750, 2012.
PubMed
13) Patel JP, et al : Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 366 (12) : 1079-1089, 2012.
PubMed
14) Hou HA, et al : TP53 mutations in de novo acute myeloid leukemia patients : longitudinal follow-ups show the mutation is stable during disease evolution. Blood Cancer J 5 : e331, 2015.
PubMed
15) Miyawaki S : Clinical studies of acute myeloid leukemia in the Japan Adult Leukemia Study Group. Int J Hematol 96 (2) : 171-177, 2012.
 
P.472 掲載の参考文献
1) 公益法人がん研究振興財団 : がんの統計 '15. [http://ganjoho.jp/data/reg_stat/statistics/brochure/2015/cancer_statistics_2015_date_J.pdf] (Access Apr. 1. 2016)
 
2) NCCN Guidelines Version 1. 2016, Acute lymphoblastic leukemia. [http://www.nccn.org/professionals/physician_gls/pdf/all.pdf] (Access Apr. 1. 2016)
 
3) 薄井紀子 : 成人急性リンパ性白血病/リンパ芽球性リンパ腫の治療法. 臨床血液 52 : 1594-1602, 2011.
 
4) Smith M, et al : Uniform approach to risk classhication and treatment assignment for children With acute lymphoblastic leukemia. J Clin Oncol 14 : 18-24, 1996.
PubMed
5) Pui CH, Evans WE : Treatment of acute lymphoblastic leukemia. N Engl J Med 354 : 166-178, 2006.
PubMed
6) Gokbuget N, Hoelzer D : Treatment of adult acute lymphoblastic leukemia. Hematology Am Soc Hematol Educ Program 2006 : 133-141, 2006.
PubMed
7) Ribera JM, et al : Comparison of intensive chemotherapy, allogeneic or autologous stem cell transplantation as postremission treatment for adult patients with high-risk acute lymphoblastic leukemia : Results of the PETHEMA ALL-93 trial. Haematologica 90 : 1346-1356, 2005.
 
8) Stock W, et al : What determines the outcomes for adolescents and young adults with acute lymphoblastic leukemia treated on cooperative group protocols? A comparison of Children's Cancer Group and Cancer and Leukemia Group B studies. Blood 112 : 1646-1654, 2008.
 
9) Pui CH, et al : Improved prognosis for older adolescents with acute lymphoblastic leukemia. J Clin Oncol 29 (4) : 386-391, 2011.
PubMed
10) Hayakawa F, et al : Markedly improved outcomes and acceptable toxicity in adolescents and young adults with acute lymphoblastic leukemia fbllowing treatment with a pediatric protocol : a phase II study by the Japan Adult Leukemia Study Group. Blood Cancer J 4 : e252, 2014.
 
11) Jinnai I, et al : Intensified consolidation therapy with dose-escalated doxorubicin did not improve the prognosis of adults with acute lymphoblastic leukemia : the JALSG-ALL97 study. Int J Hematol 92 : 490-502, 2010.
 
12) Takeuchi J, et al : Induction therapy by frequent administration of doxorubicin with four other drugs, followed by intensive consolidation and maintenance therapy for adult acute lymphoblastic leukemia : The JALSG-ALL93 study. Leukemia 16 : 1259-1266, 2002.
PubMed
13) Kantarjian H, et al : Long-term follow-up results of hyperfractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone (Hyper-CVAD), a dose-intensive regimen, in adult acute lymphocytic leukemia. Cancer 101 : 2788-2801, 2004.
PubMed
14) Moorman AV, et al : Karyotype is an independent prognostic factor in adult acute lymphoblastic leukemia (ALL) : analysis of cytogenetic data from patients treated on the Medical Research Council (MRC) UKALLXII/Eastern Cooperative Oncology Group (ECOG) 2993 trial. Blood 109 : 3189-3197, 2007.
PubMed
15) Yanada M, et al : High complete remission rate and promising outcome by combination of imatinib and chemotherapy for newly diagnosed BCR-ABL-positive acute lymphoblastic leukemia : a phase II study by the Japan Adult Leukemia Study Group. J Clin Oncol 24 : 460-466, 2006.
 
16) Marks DI, et al : T-cell acute lymphoblastic leukemia in adults : Clinical features, immunophenotype, cytogenetics, and outcome from the large randomized prospective trial (UKALL XII/ECOG 2993). Blood 114 : 5136-5145, 2009.
PubMed
17) Jain N, et al : Early T-cell precursor acute lymphoblastic leukemia/lymphoma (ETP-ALL/LBL) in adolescents and adults : a high-risk subtype. Blood 127 : 1863-1869, 2016.
 
18) Bassan R Hoelzer D : Modern therapy of acute lymphoblastic leukemia. J Clin Oncol 29 : 532-543, 2011.
PubMed
19) Bruggemann M, et al : Clinical significance of minimal residual disease quantification in adult patients with standard-risk acute lymphoblastic leukemia. Blood 107 : 1116-1123, 2006.
PubMed
20) van Dongen JJ, et al : Minimal residual disease diagnostics in acute lymphoblastic leukemia : need for sensitive, fast, and standardized technologies. Blood 125 (26) : 3996-4009, 2015.
PubMed
21) Schultz KR et al : Risk-and response-based classification of childhood B-precursor acute lymphoblastic leukemia : a combined analysis of prognostic markers from the Pediatric Oncology Group (POG) and Children's Cancer Group (CCG). Blood 109 (3) : 926-935, 2007.
 
22) Asselin BL, et al : Effectiveness of high-dose methotrexate in T-cell lymphoblastic leukemia and advanced-stage lymphoblastic lymphoma : a randomized study by the Children's Oncology Group (POG 9404). Blood 118 : 874-883, 2011.
 
23) SchultZ KR, et al : Long-term follow-up of imatinib in pediatric Philadelphia chromosome-positive acute lymphoblastic leukemia : Children's Oncology group study AALL0031. Leukemia 28 : 1467-1471, 2014.
 
24) Pullarkat V, et al : Impact of cytogenetics on the outcome of adult acute lymphoblastic leukemia : results of Southwest Oncology Group 9400 study. Blood 111 : 2563-2572, 2008.
 
P.478 掲載の参考文献
1) Cortes JE, et al : Chronic myelogenous leukemia : a review. Am J Med 100 : 555-570, 1996.
PubMed
2) Baccarani M, et al : European LeukemiaNet. Chronic myeloid leukemia : an update of concepts and management recommendations of European LeukemiaNet. J Clin Oncol 27 : 6041-6051, 2009.
PubMed
3) Vardiman JW, et al : The World Health Organization (WHO) classification of the myeloid neoplasms. Blood 100 : 2292-2302, 2002.
PubMed
4) Fabarius A, et al : Impact of additional cytogenetic aberrations at diagnosis on prognosis of CML : long-term observation of 1151 patients from the randomized CML Study IV. Blood 118 : 6760-6768, 2011.
PubMed
5) Luatti S, et al : Additional chromosomal abnormalities in Philadelphia-positive clone : adverse prognostic influence on frontline imatinib therapy : a GIMEMA Working Party on CML analysis. Blood 120 : 761-767, 2012.
 
6) Baccarani M, et al : European LeukemiaNet recommendations for the management of chronic myeloid leukemia : 2013. Blood 122 : 872-884, 2013.
PubMed
7) Sokal JE, et al : Prognostic discrimination in "good-risk" chronic granulocytic leukemia Blood 63 : 789-799, 1984.
PubMed
8) Hasford J, et al : A new prognostic score for survival of patients with chronic myeloid leukemia treated with interferon alfa. J Natl Cancer Inst 90 : 850-858, 1998.
PubMed
9) Hasford J, et al : Predicting complete cytogenetic response and subsequent progression-free survival in 2060 patients with CML on imatinib treatment : the EUTOS score. Blood 118 : 686-692, 2011.
PubMed
10) Hanfstein B, et al : Velocity of early BCR-ABL transcript elimination as an optimized predictor of outcome in chronic myeloid leukemia (CML) patients in chronic phase on treatment with imatinib. Leukemia 28 : 1988-1992, 2014.
PubMed
11) Branford S, et al : Prognosis for patients with CML and > 10% BCR-ABL1 after 3 months of imatinib depends on the rate of BCR-ABL1 decline. Blood 124 : 511-518, 2014.
PubMed
12) Iriyama N, et al : Shorter halving time of BCR-ABL1 transcripts is a novel predictor for achievement of molecular responses in newly diagnosed chronic-phase chronic myeloid leukemia treated with dasatinib : results of the D-First study of Kanto CML Study Group. Am J Hematol 90 : 282-287, 2015.
 
13) Jiang Q, et al : Imatinib mesylate versus allogeneic hematopoietic stem cell transplantation for patients with chronic myelogenous leukemia in the accelerated phase. Blood 117 : 3032-3040, 2011.
PubMed
14) Rea D, et al : First-line imatinib mesylate in patients with newly diagnosed accelerated phase-chronic myeloid leukemia. Leukemia 26 : 2254-2259, 2012.
PubMed
P.485 掲載の参考文献
1) Hallek M, et al ; International Workshop on Chronic Lymphocytic Leukemia : Guidelines for the diagnosis and treatment of chronic lymphocytic leukemia : a report from the International Workshop on Chronic Lymphocytic Leukemia updating the National Cancer Institute-Working Group 1996 guidelines. Blood 111 : 5446-5456, 2008.
 
2) Hallek M : Chronic lymphocytic leukemia : 2015 Update on diagnosis, risk stratification, and treatment. Am J Hematol 90 (5) : 446-460, 2015.
PubMed
3) Montserrat E : New prognostic markers in CLL. Hematology Am Soc Hematol Educ Program 2006 : 279-284, 2006.
PubMed
4) Pflug N, et al : Development of a comprehensive prognostic index for patients with chronic lymphocytic leukemia. Blood 124 (1) : 49-62, 2014.
PubMed
5) Nabhan C, et al : Predicting Prognosis in Chronic Lymphocytic Leukemia in the Contemporary Era. JAMA Oncol 1 (7) : 965-974, 2015.
PubMed
6) Goede V, et al : Evaluation of geriatric assessment in patients with chronic lymphocytic leukemia : Results of the CLL9 trial of the German CLL study group. Leuk Lymphoma 57 (4) : 789-796, 2016.
 
7) Hallek M, et al : Addition of rituximab to fl udarabine and cyclophosphamide in patients with chronic lymphocytic leukaemia : a randomised, open-label, phase 3 trial. Lancet 376 : 1164-1174, 2010.
 
8) Eichhorst B, et al : Chronic lymphocytic leukaemia : ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol 26 (Suppl 5) : v78-v84, 2015.
 
9) 鈴宮淳司, 青木定夫 : 慢性リンパ性白血病とその類縁疾患. 血液専門医テキスト改訂第2版 (日本血液学会編), p288-292, 南江堂, 2015.
 
10) Bulian P, et al : CD49d is the strongest flow cytometry-based predictor of overall survival in chronic lymphocytic leukemia. J Clin Oncol 32 (9) : 897-904, 2014.
PubMed
11) Dohner H, et al : Genomic aberrations and survival in chronic lymphocytic leukemia. N Engl J Med 343 (26) : 1910-1916, 2000.
PubMed
12) Zent CS, Burack WR : Mutations in chronic lymphocytic leukemia and how they affect therapy choice : focus on NOTCH1, SF3B1, and TP53. Hematology Am Soc Hematol Educ Program 2014 (1) : 119-124, 2014.
PubMed
13) Stilgenbauer S, et al : Gene mutations and treatment outcome in chronic lymphocytic leukemia : results from the CLL8 trial. Blood 123 (21) : 3247-3254, 2014.
PubMed
14) Landau DA, et al : Mutations driving CLL and their evolution in progression and relapse. Nature 526 (7574) : 525-530, 2015.
PubMed
15) International CLL-IPI working group : An international prognostic index for patients with chronic lymphocytic leukaemia (CLL-IPI) : a meta-analysis of individual patient data Lancet Oncol, 2016. [Epub ahead of print]
 
P.491 掲載の参考文献
1) Greenberg P, et al : International prognostic scoring system for myelodysplastic syndromes. Blood 89 : 2079-2088, 1997.
PubMed
2) Schanz J, et al : New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes (MDS) and oligoblastic acute myeloid leukemia after MDS derived from an international database merge. J Clin Oncol 30 : 820-829, 2012.
PubMed
3) Greenberg PL, et al : Revised international prognostic scoring system for myelodysplastic syndromes. Blood 120 : 2454-2465, 2012.
PubMed
4) Mufti GJ, et al : Myelodysplastic syndromes : a scoring system with prognostic signhicance. Br J Haematol 59 : 425-433, 1985.
PubMed
5) Schanz J, et al : Monosomal karyotype in MDS : explaining the poor prognosis? Leukemia 27 : 1988-1995, 2013.
PubMed
6) Bejar R, et al : Tp53 mutation status divides MDS patients with complex karyotypes into distinct prognostic risk groups : Analysis of combined datasets from the international working group for MDS-molecular prognosis committee. Annual Meeting of ASH, abstract 532, 2014.
 
P.496 掲載の参考文献
1) Tefferi A, et al : Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis. Blood 124 : 2507-2513, 2014.
PubMed
2) Tefferi A, et al : Survival and prognosis among 1545 patients with contemporary polycythemia vera : an international study. Leukemia 27 : 1874-1881, 2013.
 
3) Bonicelli G, et al : Leucocytosis and thrombosis at diagnosis are associated with poor survival in polycythaemia vera : a population-based study of 327 patients. Br J Haematol 160 : 251-254, 2013.
PubMed
4) Passamonti F, et al : A prospective study of 338 patients with polycythemia vera : the impact of JAK2 (V617F) allele burden and leukocytosis on fibrotic or leukemic disease transformation and vascular complications. Leukemia 24 : 1574-1579, 2010.
PubMed
5) Wolanskyj AP, et al : Essential thrombocythemia beyond the first decade : life expectancy, long-term complication rates, and prognostic factors. Mayo Clin Proc 81 : 159-166, 2006.
PubMed
6) Gangat N, et al : Risk strathication for survival and leukemic transformation in essential thrombocythemia : a single institutional study of 605 patients. Leukemia 21 : 270-276, 2007.
PubMed
7) Passamonti F, et al : A prognostic model to predict survival in 867 World Health Organization-defined essential thrombocythemia at diagnosis : a study by the International Working Group on Myelofibrosis Research and Treatment. Blood 120 : 1197-1201, 2012.
 
8) Barbui T, et al : Development and validation of an International Prognostic Score of thrombosis in World Health Organization-essential thrombocythemia (IPSET-thrombosis). Blood 120 : 5128-5133, 2012.
PubMed
9) Dupriez B, et al : Prognostic factors in agnogenic myeloid metaplasia : a report on 195 cases with a new scoring system. Blood 88 : 1013-1018, 1996.
PubMed
10) Cervantes F, et al : New prognostic scoring system for primary myelofibrosis based on a study of the International Working Group for Myelofibrosis Research and Treatment. Blood 113 : 2895-2901, 2009.
 
11) Passamonti F, et al : A dynamic prognostic model to predict survival in primary myelofibrosis : a study by the IWG MRT (International Working Group for Myeloproliferative Neoplasms Research and Treatment). Blood 115 : 1703-1708, 2010.
 
12) Gangat N, et al : DIPSS plus : a refined Dynamic International Prognostic Scoring System for primary myelofibrosis that incorporates prognostic information from karyotype, platelet count, and transfusion status. J Clin Oncol 29 : 392-397, 2011.
 
13) Guglielmelli P, et al : The number of prognostically detrimental mutations and prognosis in primary myelofibrosis : an international study of 797 patients. Leukemia 28 : 1804-1810, 2014.
 
14) Tefferi A, et al : CALR and ASXL1 mutations-based molecular prognostication in primary myelofibrosis : An international study of 570 patients. Leukemia 28 : 1494-1500, 2014.
 
15) Tefferi A, et al : The prognostic advantage of calreticulin mutations in myelofibrosis might be confined to type 1 or type 1-like CALR variants. Blood 124 : 2465-2466, 2014.
PubMed

VI 白血病・骨髄異形成症候群・骨髄増殖性腫瘍の症候と検査・診断

P.505 掲載の参考文献
1) Mehta PA, Dubrey SW : High output heart failure. QJM 102 : 235-241, 2009.
PubMed
2) Chen CY, et al : Intracranial hemorrhage in adult patients with hematological malignancies. BMC Med 10 : 97. doi : 10.1186/1741-7015-10-97, 2012.
 
3) Kohen PR, Kurzrock R : Sweet's syndrome and malignancy. Am J Med 82 : 1220-1226, 1987.
 
4) Rollig C, Ehninger G : How I treat hyperleukocytosis in acute myeloid leukemia. Blood 125 : 3246-3252, 2015.
 
5) Vu K, et al : A retrospective study of venous thromboembolisim in acute leukemia patients treated at the University of Texas MD Anderson Cancer Center. Cancer Med 4 : 27-35, 2015.
 
6) Tanaka M, Yamanishi H : The expression of tissue factor antigen and activity on the surface of leukemic cells. Leukemia Res 17 : 103-111, 1993.
PubMed
7) Kawasugi K, et al : Prospective evaluation of hemostatic abnormalities in overt DIC due to various underlying diseases. Thromb Res 128 : 186-190, 2011.
PubMed
8) Wroblewski F, La Due JS : Lactic dehydrogenase activity in blood. Proc Soc Exp Biol Med 90 : 210-213, 1955.
 
9) 高久史麿ほか : 臨床検査データブック 2011-2012, p141-142, 医学書院, 2011.
 
10) Sandberg AA, et al : Studies on leukemia. Blood 11 : 154-166, 1956.
PubMed
11) 西瀬雄子ほか : 検査値を読む. 内科 111 : 1234, 2013.
 
12) Walter RB, et al : Prediction of early death after induction therapy for newly diagnosed acute myeloid leukemia with pretreatment risk scores : A novel paradigm for treatment assignment. J Clin Oncol 29 : 4417-4423, 2011.
PubMed
13) O'Brien SG, et al : Imatinib compared with interferon and low-dose cytarabine for newly diagnosed chronic-phase chronic myeloid leukemia. N Engl J Med 348 : 994-1004, 2003.
PubMed
14) Kaneko H, et al : Asymptomatic patients with acute leukemias and malignant lymphomas found in ningen dock. Ningen Dock 24 : 21-24, 2010.
 
P.513 掲載の参考文献
1) 日本血液学会ホームページ : 日血ニュース診療関連情報「成人に対する骨髄穿刺の穿刺部位に関する注意」 (2015年8月21日). [www.jshem.or.jp/news/150821.htm1]
 
2) 三輪史朗, 渡辺陽之輔 : I. 光学顕微鏡 A. 血液細胞のみかた 3. 塗抹標本のみかた. 血液細胞アトラス 第5版, p6-20, 文光堂, 2004.
 
3) Vardiman JW, et al : Introduction and overview of the classhication of the myeloid neoplasms. In : WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (ed by Swerdlow SH, et al), p17-30, IARC Press, Lyon, 2008.
 
4) Lee SH, et al : ICSH guidelines for the standardization of bone marrow specimens and reports. Int J Lab Hematol 30 : 349-364, 2008.
PubMed
5) 小川誠司 : 骨髄異形成症候群におけるスプライシング装置の異常. 臨床血液 53 : 493-496, 2012.
 
P.520 掲載の参考文献
1) 米山彰子 : 表面形質. 三輸血液病学第3版 (浅野茂隆監修), p567-580, 文光堂, 2006.
 
2) 米山彰子 : フローサイトメトリー. 三輸血液病学第3版 (浅野茂隆監修), 文光堂, p1945-1954, 2006.
 
3) 米山彰子 : フローサイトメトリー解析. 血液内科クリニカルスタンダード第2版 (東原正明ほか編). p49-52, 文光堂, 2008.
 
4) 米山彰子 : 細胞表面抗原. スタンダードフローサイトメトリー (日本サイトメトリー技術者認定協議会編), p55-79, 医歯薬出版, 2009.
 
5) 米山彰子 : 表面形質検査. 血液専門医テキスト 第2版 (日本血液学会編), p55-59, 南江堂, 2015.
 
P.529 掲載の参考文献
1) Greuber EK, et al : Role of ABL family kinases in cancer : from leukaemia to solid tumours. Nat Rev Cancer 13 : 559-571, 2013.
PubMed
2) De The H, Chen Z : Acute promyelocytic leukaemia : novel insights into the mechanisms of cure. Nat Rev Cancer 10 : 775-783, 2010.
PubMed
3) De Braekeleer E, et al : ABL1 fusion genes in hematological malignancies : a review. Eur J Haematol 86 : 361-371, 2011.
PubMed
4) Valdiman JW, et al : Chronic myelogenous leukaemia, BCR-ABL1 positive. In : WHO Classification of Tumors, Tumors of Haematopoietic and Lymphoid Tissues, 4th edition (ed by Swerdlow SH, et al), p 32-37, International Agency for Research on Cancer, Lyon, 2008.
 
5) Huret JL : t (9 ; 10) (q34 ; q22) ZMIZ1/ABL1. Atlas Genet Cytogenet Oncol Haematol 18 : 518-520, 2014.
 
6) De Braekeleer E, et al : t (9 ; 12) (q34 ; p13) ETV6/ABL1. Atlas Genet Cytogenet Oncol Haematol 18 : 859-861, 2014.
 
7) De Keersmaecker K, Huret JL : t (9 ; 14) (q34 ; q32). Atlas Genet Cytogenet Oncol Haematol 9 : 328-330, 2005.
 
8) Graux C, et al : Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia. Nat Genet 36 : 1084-1089, 2004.
 
9) Nadal N : NUP214/ABL1 fusion gene on amplified episomes. Atlas Genet Cytogenet Oncol Haematol 16 : 921-923, 2012.
 
10) Ernst T, et al : Ident近cation of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia. Br J Haematol 153 : 43-46, 2011.
 
11) De Braekeleer E, De Braekeleer M : t (1 ; 9) (q24 ; q34). Atlas Genet Cytogenet Oncol Haematol 12 : 466-468, 2008.
 
12) Huret JL : t (1 ; 9) (p34 ; q34). Atlas Genet Cytogenet Oncol Haematol 15 : 974 -975, 2011.
 
13) De Braekeleer E, et al : RARA fusion genes in acute promyelocytic leukemia : a review. Expert Rev Hematol 7 : 347-357, 2014.
PubMed
14) Tomita A, et al : Mechanisms of action and resistance to all-trans retinoic acid (ATRA) and arsenic trioxide (As2O3) in acute promyelocytic leukemia. Int J Hematol 97 : 717-725, 2013.
PubMed
15) Huret JL, Chomienne C : t (15 ; 17) (q22 ; q21). Atlas Genet Cytogenet Oncol Haematol 2 : 101-103, 1998.
 
16) Viguie F : t (11 ; 17) (q23 ; q21). Atlas Genet Cytogenet Oncol Haematol 2 : 97-99, 1998.
 
17) Viguie F : t (5 ; 17) (q13 ; q21). Atlas Genet Cytogenet Oncol Haematol 4 : 72-73, 2000.
 
18) Wells RA, et al : Fusion of retinoic acid receptor alpha to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia. Nat Genet 17 : 109-113, 1997.
PubMed
19) Huret JL : t (17 ; 17) (q21 ; q21), dup (17) (q12q21). Atlas Genet Cytogenet Oncol Haematol 14 : 155-156, 2010.
 
20) Catalano A, et al : The PRKAR1A gene is fused to RARA in a new variant acute promyelocytic leukemia. Blood 110 : 4073-4076, 2007.
 
21) Kondo K, et al : The seventh pathogenic fusion gene FIP1L1-RARA was isolated from a t (4 : 17) -positive acute promyelocytic leukemia. Haematologica 93 : 1414-1416, 2008.
 
22) Buijs A, Bruin M : Fusion of FIP1L1 and RARA as a result of a novel t (4 ; 17) (q12 ; q21) in a case of juvenile myelomonocytic leukemia. Leukemia 21 : 1104-1108, 2007.
 
23) Yamamoto Y, et al : BCOR as a novel fusion partner of retinoic acid receptor alpha in a t (X ; 17) (p11 ; q12) variant of acute promyelocytic leukemia. Blood 116 : 4274-4283, 2010.
 
24) Adams J, Nassiri M : Acute Promyelocytic Leukemia : AReview and Discussion of Variant Translocations. Arch Pathol Lab Med 139 : 1308-1313, 2015.
 
P.534 掲載の参考文献
1) Adams J, Nassiri M : Acute Promyelocytic Leukemia : A Review and Discussion of Variant Translocations. Arch Pathol Lab Med 139 : 1308-1313, 2015.
PubMed
2) Zagaria A, et al : A fluorescence in situ hybridization study of complex t (9 ; 22) in two chronic myelocytic leukemia cases with a masked Philadelphia chromosome. Cancer Genet Cytogenet 150 : 81-85, 2004.
PubMed
3) Chinen Y, et al : The leucine twenty homeobox (LEUTX) gene, which lacks a histone acetyltransferase domain, is fused to KAT6A in therapy-related acute myeloid leukemia with t (8 ; 19) (p11 : q13). Genes Chromosomes Cancer 53 : 299-308, 2014.
 
4) 田辺秀之 : 染色体テリトリー : 間期核における染色体の核内配置と核高次構造に関する最近の研究. 環境変異原研究 25 : 11-22, 2003.
 
5) Gadji M, et al : Profiling three-dimensional nuclear telomeric architecture of myelodysplastic syndromes and acute myeloid leukemia defines patient subgroups. Clin Cancer Res 18 : 3293-3304, 2012.
PubMed
6) Klonisch T, et al : Nuclear imaging in three dimensions : a unique tool in cancer research. Ann Anat 192 : 292-301, 2010.
PubMed
7) Knecht H, et al : 3D structural and functional characterization of the transition from Hodgkin to Reed-Sternberg cells. Ann Anat 192 : 302-308, 2010.
PubMed
8) Cabili MN, et al : Localization and abundance analysis of human lncRNAs at single-cell and single-molecule resolution. Genome Biol 16 : 20, 2015.
PubMed
9) Deng W, et al : CASFISH : CRISPR/Cas9-mediated in situ labeling of genomic loci in fixed cells. Proc Natl Acad Sci USA 112 : 11870-11875, 2015.
PubMed
10) Taki T, et al : The MYO1F, unconventional myosin type 1F, gene is fused to MLL in infant acute monocytic leukemia with a complex translocation involving chromosomes 7, 11, 19 and 22. Oncogene 24 : 5191-5197, 2005.
 
11) Chinen Y, et al : 8q24 amplified segments involve novel fusion genes between NSMCE2 and long noncoding RNAs in acute myelogenous leukemia. J Hematol Oncol 7 : 68, 2014.
PubMed
12) Schrock E, et al : Multicolor spectral karyotyping of human chromosomes. Science 5274 : 494-497, 1996.
PubMed
P.539 掲載の参考文献
1) Rowley JD : A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 243 : 290-293, 1973.
PubMed
2) Rowley JD : Identification of a translocation with quinacrine fluorescence in a patient with acute leukemia. Ann Genet 16 : 109-112, 1973.
 
3) Southem EM : Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol 98 : 503-517, 1975.
 
4) 滝智彦 : 遺伝子検査 (免疫グロブリン遺伝子, T細胞受容体遺伝子再構成). 日本臨牀 73 (増刊号 8) : 339-344, 2015.
 
5) Mullis KB, Faloona EA : Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. Methods Enzymol 155 : 335-350, 1987.
 
6) Gabert J, et al : Standardization and quality control studies of 'real-time' quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia-a Europe Against Cancer program. Leukemia 17 : 2318-2357, 2003.
PubMed
7) Mahon F, et al : Discontinuation of imatinib in patients With chronic myeloid leukaemia who have maintained complete molecular remission for at least 2 years : the prospective, multicentre Stop Imatinib (STIM) trial. Lancet Oncol 11 : 1029-1035, 2010.
PubMed
8) Maxam AM, Gilbert W : A new method for sequencing DNA Proc Natl Acad Sci USA 74 : 560-564, 1977.
 
9) Sanger F, et al : DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74 : 5463-5467, 1977.
PubMed
10) Zhang J, et al : The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 481 (7380) : 157-163, 2012.
 
11) Roberts KG, et al : Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia. N Engl J Med 371 (11) : 1005-1015, 2014.
PubMed
12) Yasuda T, et al : Recurrent DUX4 fusions in B cell acute lymphoblastic leukemia of adolescents and young adults. Nat Genet 48 : 569-574, 2016.
 

書評

最近チェックした商品履歴

Loading...