日本臨牀　別冊　血液症候群（第3版）V

出版社： 日本臨牀社
発行日： 2024-03-31
分野： 臨床医学：一般  >  雑誌
ISSN： 00471852
雑誌名：
特集： 血液症候群（第3版）V―その他の血液疾患を含めて―
電子書籍版： 2024-03-31 （第3版第1刷）
書籍・雑誌
≪全国送料無料でお届け≫
取寄せ目安：4～8営業日

22,000 円(税込)

購入する
電子書籍
章別単位で購入
ブラウザ、アプリ閲覧

22,000 円(税込)

購入する

目次

  • 特集　血液症候群（第3版）V
    　　　―その他の血液疾患を含めて―

    X 血漿タンパクの異常
    1．多発性骨髄腫
    　(1)IgG 型，IgA 型，BJP 型，IgD 型の多発性骨髄腫
    　(2)IgM 型多発性骨髄腫
    　(3)IgE 型多発性骨髄腫
    　(4)孤立性形質細胞腫
    　(5)髄外性形質細胞腫
    　(6)くすぶり型多発性骨髄腫
    　(7)劇症型多発性骨髄腫
    　(8)非分泌型多発性骨髄腫
    　(9)腫瘤形成性多発性骨髄腫
    　(10)アミラーゼ産生多発性骨髄腫
    　(11)NSE 産生多発性骨髄腫
    　(12)複M 成分型多発性骨髄腫
    　(13)高アンモニア血症を伴う多発性骨髄腫
    　(14)形質細胞白血病
    2．原発性マクログロブリン血症と類縁疾患
    　(1)原発性マクログロブリン血症
    　(2)白血性マクログロブリン血症
    　(3)限局性原発性マクログロブリン血症
    　(4)X 連鎖性高IgM 症候群
    3．H 鎖病
    　(1)H 鎖病
    4．骨髄腫関連疾患
    　(1)意義不明の単クローン性免疫グロブリン血症(MGUS)
    　(2)Monoclonal gammopathy of renal significance(MGRS)
    　(3)単クローン性免疫グロブリン沈着症(MIDD)
    　(4)POEMS 症候群
    　(5)AESOP 症候群
    　(6)Castleman 病
    　(7)TAFRO 症候群
    　(8)TEMPI 症候群
    5．アミロイドーシス
    　(1)全身性アミロイドーシス
    　1)原発性AL アミロイドーシス
    　2)二次性(AA)アミロイドーシス
    　3)遺伝性アミロイドーシス
    　　<1>遺伝性トランスサイレチンアミロイドーシス
    　　<2>遺伝性ゲルゾリンアミロイドーシス
    　　<3>遺伝性アポリポタンパクA-I アミロイドーシス
    　　<4>遺伝性Aβ2M アミロイドーシス
    　　<5>遺伝性腎アミロイドーシス
    　　<6>遺伝性自己炎症疾患
    　4)野生型トランスサイレチンアミロイドーシス
    　5)透析アミロイドーシス
    　(2)局所性アミロイドーシス
    　1)限局性結節性肺アミロイドーシス
    　2)心アミロイドーシス
    　3)脳アミロイドーシス
    　4)皮膚アミロイドーシス
    6．クリオグロブリン血症
    7．高γ グロブリン血症
    　(1)高γ グロブリン血症性紫斑病
    　(2)多クローン性高γ グロブリン血症
    　(3)Biclonal gammopathy
    8．その他の血漿タンパクの異常
    　(1)IgG3 欠損症
    　(2)高β2-ミクログロブリン血症
    　(3)無β リポタンパク血症(Bassen-Kornzweig 症候群)
    　(4)原発性低HDL 血症
    　(5)アルブミン異常
    　1)先天性無アルブミン血症
    　2)アロアルブミン血症
    　3)後天性低アルブミン血症
    　(6)IgG4 関連疾患

    XI 血栓形成性疾患
    1．先天性血栓形成性疾患
    　(1)先天性アンチトロンビン欠乏症/分子異常症
    　(2)先天性プロテインC 欠乏症/異常症
    　(3)先天性プロテインS 欠乏症/異常症
    　(4)活性化プロテインC(APC)レジスタンス
    　(5)プラスミノゲンアクチベータインヒビター1 過剰症
    　(6)Hageman trait：第XII 因子欠乏症
    　(7)ヘパリンコファクターII 欠乏症
    2．後天性血栓形成性疾患
    　(1)抗リン脂質抗体症候群
    　(2)血液凝固第VII 因子と循環器疾患リスクの関連性
    　(3)高フィブリノゲン血症

    XII その他
    1．海青組織球症候群
    2．Sweet 症候群
    3．VEXAS 症候群
    4．全身性毛細血管漏出症候群
    5．Tn 症候群
    6．後天性血栓傾向
    7．母児間輸血症候群と双胎間輸血症候群
    8．造血幹細胞移植における生着症候群
    9．急性・慢性GVHD
    10．輸血後移植片対宿主病(輸血後GVHD)
    11．過粘稠度症候群
    12．造血幹細胞移植関連血栓性微小血管障害症
    13．腫瘍崩壊症候群
    14．HBV の再活性化
    15．骨髄癌腫症
    16．膠様髄

    XIII 補遺
    1．血小板の異常の補遺
    　(1)本態性血小板増加症

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。

X 血漿タンパクの異常

P.11 掲載の参考文献
1) Li Z, Woo CJ, Iglesias-Ussel MD, et al : The generation of antibody diversity through somatic hypermutation and class switch recombination. Genes Dev 18 : 1-11, 2004.
PubMed
2) Strachan T, Read A : Human Molecular Genetics, Garland Science, New York, 2018.
 
3) Tonegawa S : Somatic generation of antibody diversity. Nature 302 : 575-581, 1983.
PubMed
4) Pratt G : The evolving use of serum free light chain assays in haematology. Br J Haematol 141 : 413-422, 2008.
PubMed
5) Bradwell AR, Carr-Smith HD, Mead GP, et al : Serum test for assessment of patients with Bence Jones myeloma. Lancet 361 : 489-491, 2003.
 
6) Katzmann JA, Clark RJ, Abraham RS, et al : Serum reference intervals and diagnostic ranges for free kappa and free lambda immunoglobulin light chains : relative sensitivity for detection of monoclonal light chains. Clin Chem 48 : 1437-1444, 2002.
PubMed
7) 日本骨髄腫学会 (編) : 多発性骨髄腫の診療指針, 第5版, p119, 文光堂, 2020.
 
8) Kyle RA, Gertz MA, Witzig TE, et al : Review of 1027 patients with newly diagnosed multiple myeloma. Mayo Clin Proc 78 : 21-33, 2003.
PubMed
9) Bal S, Giri S, Godby KN, et al : Revisiting the impact of immunoglobulin isotypes in multiple myeloma. Ann Hematol 101 : 825-829, 2022.
PubMed
10) Hanamura I, Stewart JP, Huang Y, et al : Frequent gain of chromosome band 1q21 in plasma-cell dyscrasias detected by fluorescence in situ hybridization : incidence increases from MGUS to relapsed myeloma and is related to prognosis and disease progression following tandem stem-cell transplantation. Blood 108 : 1724-1732, 2006.
PubMed
11) Chen L, Fan F, Deng J, et al : Clinical characteristics and prognosis of immunoglobulin D myeloma in the novel agent era. Ann Hematol 98 : 963-970, 2019.
 
12) Hayman SR, Bailey RJ, Jalal SM, et al : Translocations involving the immunoglobulin heavy-chain locus are possible early genetic events in patients with primary systemic amyloidosis. Blood 98 : 2266-2268, 2001.
PubMed
13) Avet-Loiseau H, Garand R, Lode L, et al : Translocation t (11 ; 14) (q13 ; q32) is the hallmark of IgM, IgE, and nonsecretory multiple myeloma variants. Blood 101 : 1570-1571, 2003.
PubMed
P.17 掲載の参考文献
1) 多発性骨髄腫の診療指針, 第5版 (日本骨髄腫学会編), 文光堂, 2020.
 
2) Schuster SR, Rajkumar SV, Dispenzieri A, et al : IgM multiple myeloma : disease definition, prognosis, and differentiation from Waldenstrom's macroglobulinemia. Am J Hematol 85 : 853-855, 2010.
PubMed
3) Owen RG, Feyler S, O'Connor SJ, et al : Defining IgM multiple myeloma. Am J Hematol 86 : 717, 2011.
PubMed
4) Cabrera Q, Chantepie S, Salaun V, et al : IgM multiple myeloma : more on a rare and heterogeneous disease. Am J Hematol 86 : 717-718, 2011.
PubMed
5) Girard LP, Soekojo CY, Ooi M, et al : Immunoglobulin M Paraproteinaemias. Cancers (Basel) 12 : 1688, 2020.
PubMed
6) Rajkumar SV : Multiple myeloma : 2022 update on diagnosis, risk stratification, and management. Am J Hematol 97 : 1086-1107, 2022.
PubMed
7) 安部正博 : 多発性骨髄腫の病態解明と治療の進歩. 日本内科学会雑誌 104 : 305-313, 2015.
 
8) Kyle RA, Larson DR, Therneau TM, et al : Long-Term Follow-up of Monoclonal Gammopathy of Undetermined Significance. N Engl J Med 378 : 241-249, 2018.
PubMed
9) Castillo JJ, Jurczyszyn A, Brozova L, et al : IgM myeloma : A multicenter retrospective study of 134 patients. Am J Hematol 92 : 746-751, 2017.
PubMed
10) Feyler S, O'Connor SJ, Rawstron AC, et al : IgM myeloma : a rare entity characterized by a CD20-CD56-CD117-immunophenotype and the t (11 ; 14). Br J Haematol 140 : 547-551, 2008.
 
11) Kuehl WM, Bergsagel PL : Molecular pathogenesis of multiple myeloma and its premalignant precursor. J Clin Invest 122 : 3456-3463, 2012.
PubMed
12) Mehta J, Singhal S : Hyperviscosity syndrome in plasma cell dyscrasias. Semin Thromb Hemost 29 : 467-471, 2003.
PubMed
13) Jian Y, Zhang Z, Zhou H, et al : CD20 expression : A risk stratification factor for newly diagnosed multiple myeloma with t (11 ; 14). Front Oncol, 12 : 1061438, 2022.
 
14) Paiva B, Montes MC, Garcia-Sanz R, et al : Multiparameter flow cytometry for the identification of the Waldenstrom's clone in IgM-MGUS and Waldenstrom's Macroglobulinemia : new criteria for differential diagnosis and risk stratification. Leukemia 28 : 166-173, 2014.
 
15) Fuchida SI, Ogura M, Ishida T, et al : A retrospective analysis of clinical features and treatment outcome in 21 patients with immunoglobulin M-related light-chain amyloidosis in Japan : a study from the Amyloidosis Research Committee. Int J Hematol 118 : 443-449, 2023.
 
P.20 掲載の参考文献
1) Johansson SG, Bennich H : Immunological studies of an atypical (myeloma) immunoglobulin. Immunology 13 : 381-394, 1967.
PubMed
2) Jako JM, Gesztesi T, Kaszas I : IgE lambda monoclonal gammopathy and amyloidosis. Int Arch Allergy Immunol 112 : 415-421, 1997.
PubMed
3) Jurczyszyn A, Castillo JJ, Vesole DH, et al : Clinical characteristics and treatment outcomes in IgE multiple myeloma : A case-control study. Am J Hematol 93 : E238-E241, 2018.
PubMed
4) Macro M, Andre I, Comby E, et al : IgE multiple myeloma. Leuk Lymphoma 32 : 597-603, 1999.
PubMed
5) Talamo G, Castellani W, Dolloff NG : Prozone effect of serum IgE levels in a case of plasma cell leukemia. J Hematol Oncol 3 : 32, 2010.
 
6) Pandey S, Kyle RA : Unusual myelomas : A review of IgD and IgE variants. Oncology. (Williston Park) 27 : 798-803, 2013.
PubMed
7) Hua J, Hagihara M, Inoue M, et al : A case of IgE-multiple myeloma presenting with a high serum Krebs von den Lungen-6 level. Leuk Res 36 : e107-109, 2012.
 
8) Avet-Loiseau H, Garand R, Lode L, et al : Translocation t (11 ; 14) (q13 ; q32) is the hallmark of IgM, IgE, and nonsecretory multiple myeloma variants. Blood 101 : 1570-1571, 2003.
PubMed
9) Morris C, Drake M, Apperley J, et al : Efficacy and outcome of autologous transplantation in rare myelomas. Haematologica 95 : 2126-2133, 2010.
PubMed
10) 武井智美, 石田禎夫, 池田昌弘, ほか : 新規薬剤投与によりcomplete response に至ったIgE-κ型多発性骨髄腫. 臨床血液 58 : 2232-2237, 2017.
 
11) Nakahara W, Ogawa T, Matsunaga H, et al : IgE Plasma Cell Leukemia Harboring t (11 ; 14) and 1q Amplification. Case Rep Hematol 2023 : 4747989, 2023.
PubMed
12) Kumar S, Harrison S, Cavo M, et al : Venetoclax or placebo in combination with bortezomib and dexamethasone in patients with relapsed or refractory multiple myeloma (BELLINI) : a randomised, double-blind, multicentre, phase 3 trial. Lancet Oncol 21 : 1630-1642, 2020.
 
P.24 掲載の参考文献
1) Caers J, Paiva B, Zamagni E, et al : Diagnosis, treatment, and response assessment in solitary plasmacytoma : updated recommendations from a European Expert Panel. J Hematol Oncol 11 : 10, 2018.
 
2) Fotiou D, Dimopoulos MA, Kastritis E : How We Manage Patients with Plasmacytomas. Curr Hematol Malig Rep 13 : 227-235, 2018.
PubMed
3) Dimopoulos MA, Moulopoulos LA, Maniatis A, et al : Solitary plasmacytoma of bone and asymptomatic multiple myeloma. Blood 96 : 2037-2044, 2000.
PubMed
4) McLain RF, Weinstein JN : Solitary plasmacytomas of the spine : a review of 84 cases. J Spinal Disord 2 : 69-74, 1989.
 
5) Hill QA, Rawstron AC, de Tute RM, et al : Outcome prediction in plasmacytoma of bone : a risk model utilizing bone marrow flow cytometry and light-chain analysis. Blood 124 : 1296-1299, 2014.
 
6) Paiva B, Chandia M, Vidriales MB, et al : Multiparameter flow cytometry for staging of solitary bone plasmacytoma : new criteria for risk of progression to myeloma. Blood 124 : 1300-1303, 2014.
PubMed
7) Yadav U, Kumar SK, Baughn LB, et al : Impact of cytogenetic abnormalities on the risk of disease progression in solitary bone plasmacytomas. Blood 142 : 1871-1878, 2023.
 
8) Dingli D, Kyle RA, Rajkumar SV, et al : Immunoglobulin free light chains and solitary plasmacytoma of bone. Blood 108 : 1979-1983, 2006.
PubMed
9) Gleeson TG, Moriarty J, Shortt CP, et al : Accuracy of whole-body low-dose multidetector CT (WBLDCT) versus skeletal survey in the detection of myelomatous lesions, and correlation of disease distribution with whole-body MRI (WBMRI). Skeletal Radiol 38 : 225-236, 2009.
PubMed
10) Terpos E, Kleber M, Engelhardt M, et al : European Myeloma Network guidelines for the management of multiple myeloma-related complications. Haematologica 100 : 1254-1266, 2015.
PubMed
11) Caers J, Withofs N, Hillengass J, et al : The role of positron emission tomography-computed tomography and magnetic resonance imaging in diagnosis and follow up of multiple myeloma. Haematologica 99 : 629-637, 2014.
PubMed
12) Salaun PY, Gastinne T, Frampas E, et al : FDG-positron-emission tomography for staging and therapeutic assessment in patients with plasmacytoma. Haematologica 93 : 1269-1271, 2008.
PubMed
13) Albano D, Bosio G, Treglia G, et al : 18F-FDG PET/CT in solitary plasmacytoma : metabolic behavior and progression to multiple myeloma. Eur J Nucl Med Mol Imaging 45 : 77-84, 2018.
PubMed
14) Reed V, Shah J, Medeiros LJ, et al : Solitary plasmacytomas : outcome and prognostic factors after definitive radiation therapy. Cancer 117 : 4468-4474, 2011.
PubMed
15) Knobel D, Zouhair A, Tsang RW, et al : Prognostic factors in solitary plasmacytoma of the bone : a multicenter Rare Cancer Network study. BMC Cancer 6 : 118, 2006.
 
16) Bolek TW, Marcus RB Jr, Mendenhall NP : Solitary plasmacytoma of bone and soft tissue. Int J Radiat Oncol Biol Phys 36 : 329-333, 1996.
PubMed
17) Shih LY, Dunn P, Leung WM, et al : Localised plasmacytomas in Taiwan : comparison between extramedullary plasmacytoma and solitary plasmacytoma of bone. Br J Cancer 71 : 128-133, 1995.
PubMed
18) Aviles A, Huerta-Guzman J, Delgado S, et al : Improved outcome in solitary bone plasmacytomata with combined therapy. Hematol Oncol 14 : 111-117, 1996.
PubMed
19) Mayr NA, Wen BC, Hussey DH, et al : The role of radiation therapy in the treatment of solitary plasmacytomas. Radiother Oncol 17 : 293-303, 1990.
PubMed
20) Kumar S, Paiva B, Anderson KC, et al : International Myeloma Working Group consensus criteria for response and minimal residual disease assessment in multiple myeloma. Lancet Oncol 17 : e328-e346, 2016.
 
21) Wilder RB, Ha CS, Cox JD, et al : Persistence of myeloma protein for more than one year after radiotherapy is an adverse prognostic factor in solitary plasmacytoma of bone. Cancer 94 : 1532-1537, 2002.
PubMed
22) Kilciksiz S, Karakoyun-Celik O, Agaoglu FY, et al : A review for solitary plasmacytoma of bone and extramedullary plasmacytoma. Scientific World Journal J 2012 : 895765, 2012.
 
23) Dispenzieri A, Kyle R, Merlini G, et al : International Myeloma Working Group guidelines for serum-free light chain analysis in multiple myeloma and related disorders. Leukemia 23 : 215-224, 2009.
 
24) Delauche-Cavallier MC, Laredo JD, Wybier M, et al : Solitary plasmacytoma of the spine. Long-term clinical course. Cancer 61 : 1707-1714, 1988.
PubMed
25) Mateos MV, Hernandez MT, Giraldo P, et al : Lenalidomide plus dexamethasone for high-risk smoldering multiple myeloma. N Engl J Med 369 : 438-447, 2013.
PubMed
P.29 掲載の参考文献
1) Caers J, Paiva B, Zamagni E, et al : Diagnosis, treatment, and response assessment in solitary plasmacytoma : updated recommendations from a European Expert Panel. J Hematol Oncol 11 : 10, 2018.
 
2) Fotiou D, Dimopoulos MA, Kastritis E : How We Manage Patients with Plasmacytomas. Curr Hematol Malig Rep 13 : 227-235, 2018.
PubMed
3) Dimopoulos MA, Moulopoulos LA, Maniatis A, et al : Solitary plasmacytoma of bone and asymptomatic multiple myeloma. Blood 96 : 2037-2044, 2000.
PubMed
4) Bhutani M, Foureau DM, Atrash S, et al : Extramedullary multiple myeloma. Leukemia 34 : 1-20, 2020.
PubMed
5) Blade J, Beksac M, Caers J, et al : Extramedullary disease in multiple myeloma : a systematic literature review. Blood Cancer J 12 : 45, 2022.
PubMed
6) Pawlyn C, Morgan GJ : Evolutionary biology of high-risk multiple myeloma. Nat Rev Cancer 17 : 543-556, 2017.
PubMed
7) Deng S, Xu Y, An G, et al : Features of extramedullary disease of multiple myeloma : high frequency of p53 deletion and poor survival : a retrospective single-center study of 834 cases. Clin Lymphoma Myeloma Leuk 15 : 286-291, 2015.
PubMed
8) Lopez-Anglada L, Gutierrez NC, Garcia JL, et al : P53 deletion may drive the clinical evolution and treatment response in multiple myeloma. Eur J Haematol 84 : 359-361, 2010.
PubMed
9) Billecke L, Murga Penas EM, May AM, et al : Cytogenetics of extramedullary manifestations in multiple myeloma. Br J Haematol 161 : 87-94, 2013.
PubMed
10) Van Riet I, Vanderkerken K, de Greef C, et al : Homing behaviour of the malignant cell clone in multiple myeloma. Med Oncol 15 : 154-164, 1998
PubMed
11) Blade J, Fernandez de Larrea C, Rosinol L, et al : Soft-tissue plasmacytomas in multiple myeloma : incidence, mechanisms of extramedullary spread, and treatment approach. J Clin Oncol 29 : 3805-3812, 2011.
PubMed
12) Boll M, Parkins E, O'Connor SJ, et al : Extramedullary plasmacytoma are characterized by a 'myeloma-like' immunophenotype and genotype and occult bone marrow involvement. Br J Haematol 151 : 525-527, 2010.
PubMed
13) Katodritou E, Gastari V, Verrou E, et al : Extramedullary (EMP) relapse in unusual locations in multiple myeloma : Is there an association with precedent thalidomide administration and a correlation of special biological features with treatment and outcome? Leuk Res 33 : 1137-1140, 2009.
 
14) Rosinol L, Beksac M, Zamagni E, et al : Expert review on soft-tissue plasmacytomas in multiple myeloma : definition, disease assessment and treatment considerations. Br J Haematol 194 : 496-507, 2021.
PubMed
15) Cavo M, Terpos E, Nanni C, et al : Role of 18F-FDG PET/CT in the diagnosis and management of multiple myeloma and other plasma cell disorders : a consensus statement by the International Myeloma Working Group. Lancet Oncol 18 : e206-e217, 2017.
 
16) Galieni P, Cavo M, Pulsoni A, et al : Clinical outcome of extramedullary plasmacytoma. Haematologica 85 : 47-51, 2000.
PubMed
17) Ozsahin M, Tsang RW, Poortmans P, et al : Outcomes and patterns of failure in solitary plasmacytoma : a multicenter Rare Cancer Network study of 258 patients. Int J Radiat Oncol Biol Phys 64 : 210-217, 2006.
PubMed
18) Alexiou C, Kau RJ, Dietzfelbinger H, et al : Extramedullary plasmacytoma : tumor occurrence and therapeutic concepts. Cancer 85 : 2305-2314, 1999.
PubMed
19) Aviles A, Huerta-Guzman J, Delgado S, et al : Improved outcome in solitary bone plasmacytomata with combined therapy. Hematol Oncol 14 : 111-117, 1996.
PubMed
20) Holland J, Trenkner DA, Wasserman TH, et al : Plasmacytoma. Treatment results and conversion to myeloma. Cancer 69 : 1513-1517, 1992.
PubMed
21) Kumar S, Paiva B, Anderson KC, et al : International Myeloma Working Group consensus criteria for response and minimal residual disease assessment in multiple myeloma. Lancet Oncol 17 : e328-e346, 2016.
 
22) Kilciksiz S, Karakoyun-Celik O, Agaoglu FY, et al : A review for solitary plasmacytoma of bone and extramedullary plasmacytoma. Scientific World Journal 2012 : 895765, 2012.
 
23) Liebross RH, Ha CS, Cox JD, et al : Clinical course of solitary extramedullary plasmacytoma. Radiother Oncol 52 : 245-249, 1999.
PubMed
24) de Waal EG, Leene M, Veeger N, et al : Progression of a solitary plasmacytoma to multiple myeloma. A population-based registry of the northern Netherlands. Br J Haematol 175 : 661-667, 2016.
PubMed
25) Nahi H, Genell A, Walinder G, et al : Incidence, characteristics, and outcome of solitary plasmacytoma and plasma cell leukemia. Population-based data from the Swedish Myeloma Register. Eur J Haematol 99 : 216-222, 2017.
PubMed
26) Caers J, Withofs N, Hillengass J, et al : The role of positron emission tomography-computed tomography and magnetic resonance imaging in diagnosis and follow up of multiple myeloma. Haematologica 99 : 629-637, 2014.
PubMed
27) Reed V, Shah J, Medeiros LJ, et al : Solitary plasmacytomas : outcome and prognostic factors after definitive radiation therapy. Cancer 117 : 4468-4474, 2011.
PubMed
28) Tsang RW, Gospodarowicz MK, Pintilie M, et al : Solitary plasmacytoma treated with radiotherapy : impact of tumor size on outcome. Int J Radiat Oncol Biol Phys 50 : 113-120, 2001.
PubMed
P.34 掲載の参考文献
1) Pawlyn C, Morgan GJ : Evolutionary biology of high-risk multiple myeloma. Nat Rev Cancer 17 : 543-556, 2017.
PubMed
2) Rajkumar SV, Dimopoulos MA, Palumbo A, et al : International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma. Lancet Oncol 15 : e538-548, 2014.
 
3) Thorsteinsdottir S, Gislason GK, Aspelund T, et al : Prevalence of smoldering multiple myeloma based on nationwide screening. Nat Med 29 : 467-472, 2023.
PubMed
4) Kyle RA, Remstein ED, Therneau TM, et al : Clinical course and prognosis of smoldering (asymptomatic) multiple myeloma. N Engl J Med 356 : 2582-2590, 2007.
PubMed
5) Kyle RA, Durie BG, Rajkumar SV, et al : Monoclonal gammopathy of undetermined significance (MGUS) and smoldering (asymptomatic) multiple myeloma : IMWG consensus perspectives risk factors for progression and guidelines for monitoring and management. Leukemia 24 : 1121-1127, 2010.
PubMed
6) Bustoros M, Sklavenitis-Pistofidis R, Park J, et al : Genomic Profiling of Smoldering Multiple Myeloma Identifies Patients at a High Risk of Disease Progression. J Clin Oncol 38 : 2380-2389, 2020.
 
7) Mateos MV, Kumar S, Dimopoulos MA, et al : International Myeloma Working Group risk stratification model for smoldering multiple myeloma (SMM). Blood Cancer J 10 : 102, 2020.
 
8) Zavidij O, Haradhvala NJ, Mouhieddine TH, et al : Single-cell RNA sequencing reveals compromised immune microenvironment in precursor stages of multiple myeloma. Nat Cancer 1 : 493-506, 2020.
PubMed
9) Sklavenitis-Pistofidis R, Aranha MP, Redd RA, et al : Immune biomarkers of response to immunotherapy in patients with high-risk smoldering myeloma. Cancer Cell 40 : 1358-1373.e8, 2022.
 
10) Castella B, Foglietta M, Riganti C, et al : Vγ9Vδ2 T Cells in the Bone Marrow of Myeloma Patients : A Paradigm of Microenvironment-Induced Immune Suppression. Front Immunol 9 : 1492, 2018.
 
11) Nakamura K, Smyth MJ, Martinet L : Cancer immunoediting and immune dysregulation in multiple myeloma. Blood 136 : 2731-2740, 2020.
PubMed
12) Dutta AK, Alberge JB, Lightbody ED, et al : MinimuMM-seq : Genome Sequencing of Circulating Tumor Cells for Minimally Invasive Molecular Characterization of Multiple Myeloma Pathology. Cancer Discov 13 : 348-363, 2023.
PubMed
13) Termini R, Zihala D, Terpos E, et al : Circulating Tumor and Immune Cells for Minimally Invasive Risk Stratification of Smoldering Multiple Myeloma. Clin Cancer Res 28 : 4771-4781, 2022.
PubMed
14) Mateos MV, Hernandez MT, Giraldo P, et al : Lenalidomide plus dexamethasone for high-risk smoldering multiple myeloma. N Engl J Med 369 : 438-447, 2013.
PubMed
15) Mateos MV, Hernandez MT, Salvador C, et al : Lenalidomide-dexamethasone versus observation in high-risk smoldering myeloma after 12 years of median follow-up time : A randomized, open-label study. Eur J Cancer 174 : 243-250, 2022.
 
16) Lonial S, Jacobus S, Fonseca R, et al : Randomized Trial of Lenalidomide Versus Observation in Smoldering Multiple Myeloma. J Clin Oncol 38 : 1126-1137, 2020.
PubMed
17) Landgren CO, Chari A, Cohen YC, et al : Daratumumab monotherapy for patients with intermediate-risk or high-risk smoldering multiple myeloma : a randomized, open-label, multicenter, phase 2 study (CENTAURUS). Leukemia 34 : 1840-1852, 2020.
PubMed
18) Mateos MV, Martinez-Lopez J, Rodriguez-Otero P, et al : Curative Strategy (GEM-CESAR) for High-Risk Smoldering Myeloma (SMM) : Post-Hoc Analysis of Sustained Undetectable Measurable Residual Disease (MRD). Blood 140 : 292-294, 2022.
 
19) Kumar SK, Alsina M, Laplant B, et al : Fixed Duration Therapy with Daratumumab, Carfilzomib, Lenalidomide and Dexamethasone for High Risk Smoldering Multiple Myeloma-Results of the Ascent Trial. Blood 140 (Suppl 1) : 1830-1832, 2022.
 
P.39 掲載の参考文献
1) Suchman AL, Coleman M, Mouradian JA, et al : Aggressive plasma cell myeloma. A terminal phase. Arch Intern Med 141 : 1315-1320, 1981.
PubMed
2) 加納正 : 血しょう蛋白の異常非定型骨髄腫劇症型多発性骨髄腫. 別冊日本臨牀領域別症候群 22「血液症候群 III」-その他の血液疾患を含めて-. (諏訪庸夫編), p427-430, 日本臨牀社, 1998.
 
3) Strand WR, Banks PM, Kyle RA : Anaplastic plasma cell myeloma and immunoblastic lymphoma. Clinical, pathologic, and immunologic comparison. Am J Med 76 : 861-867, 1984.
PubMed
4) Allen SL, Coleman M : Aggressive phase multiple myeloma : a terminal anaplastic transformation resembling high-grade lymphoma. Cancer Invest 8 : 417-424, 1990.
PubMed
5) Zervas K, Constantinou N, Karakantza M, et al : Anaplastic myeloma. Leuk Lymphoma 16 : 515-518, 1995.
PubMed
6) Rasche L, Chavan SS, Stephens OW, et al : Spatial genomic heterogeneity in multiple myeloma revealed by multi-region sequencing. Nat Commun 8 : 268, 2017.
PubMed
7) Rocci A, Gambella M, Aschero S, et al : MET dysregulation is a hallmark of aggressive disease in multiple myeloma patients. Br J Haematol 164 : 841-850, 2014.
PubMed
8) Hussain S, Bedekovics T, Chesi M, et al : UCHL1 is a biomarker of aggressive multiple myeloma required for disease progression. Oncotarget 6 : 40704-40718, 2015.
PubMed
9) Robillard N, Jego G, Pellat-Deceunynck C, et al : CD28, a marker associated with tumoral expansion in multiple myeloma. Clin Cancer Res 4 : 1521-1526, 1998.
PubMed
10) D'Agostino M, Cairns DA, Lahuerta JJ, et al : Second Revision of the International Staging System (R2-ISS) for Overall Survival in Multiple Myeloma : A European Myeloma Network (EMN) Report Within the HARMONY Project. J Clin Oncol 40 : 3406-3418, 2022.
PubMed
11) Blade J, Fernandez de Larrea C, Rosinol L, et al : Soft-tissue plasmacytomas in multiple myeloma : incidence, mechanisms of extramedullary spread, and treatment approach. J Clin Oncol 29 : 3805-3812, 2011.
PubMed
12) Richardson PG, Oriol A, Beksac M, et al : Pomalidomide, bortezomib, and dexamethasone for patients with relapsed or refractory multiple myeloma previously treated with lenalidomide (OPTIMISMM) : a randomised, open-label, phase 3 trial. Lancet Oncol 20 : 781-794, 2019.
 
13) Dimopoulos MA, Dytfeld D, Grosicki S, et al : Elotuzumab plus Pomalidomide and Dexamethasone for Multiple Myeloma. N Engl J Med 379 : 1811-1822, 2018.
PubMed
14) Dimopoulos M, Quach H, Mateos MV, et al : Carfilzomib, dexamethasone, and daratumumab versus carfilzomib and dexamethasone for patients with relapsed or refractory multiple myeloma (CANDOR) : results from a randomised, multicentre, open-label, phase 3 study. Lancet 396 : 186-197, 2020.
 
15) Beksac M, Spicka I, Hajek R, et al : Evaluation of isatuximab in patients with soft-tissue plasmacytomas : An analysis from ICARIA-MM and IKEMA. Leuk Res 122 : 106948, 2022.
PubMed
P.42 掲載の参考文献
1) International Myeloma Working Group : Criteria for the classification of monoclonal gammopathies, multiple myeloma and related disorders : a report of the International Myeloma Working Group. Br J Haematol 121 : 749-757, 2003.
 
2) Rajkumar SV, Dimopoulos MA, Palumbo A, et al : International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma. Lancet Oncol 15 : e538-548, 2014.
 
3) 日本骨髄腫学会 (編) : 臨床所見と初診時検査. 多発性骨髄腫の診療指針, 第5版, p6-19, 文光堂, 2020.
 
4) Drayson M, Tang LX, Drew R, et al : Serum free light-chain measurements for identifying and monitoring patients with nonsecretory multiple myeloma. Blood 97 : 2900-2902, 2001.
PubMed
5) Nandakumar B, Kumar SK, Dispenzieri A, et al : Cytogenetic Features and Clinical Outcomes of Patients With Non-secretory Multiple Myeloma in the Era of Novel Agent Induction Therapy. Clin Lymphoma Myeloma Leuk 20 : 53-56, 2020.
PubMed
6) 日本骨髄腫学会 (編) : 資料編. 多発性骨髄腫の診療指針, 第5版, p119, 文光堂, 2020.
 
7) Dupuis MM, Tuchman SA : Non-secretory multiple myeloma : from biology to clinical management. Onco Targets Ther 9 : 7583-7590, 2016.
PubMed
8) Dul JL, Argon Y : A single amino acid substitution in the variable region of the light chain specifically blocks immunoglobulin secretion. Proc Natl Acad Sci U S A 87 : 8135-8139, 1990.
PubMed
9) Coriu D, Weaver K, Schell M, et al : A molecular basis for nonsecretory myeloma. Blood 104 : 829-831, 2004.
 
10) Migkou M, Avivi I, Gavriatopoulou M, et al : Clinical characteristics and outcomes of oligosecretory and non-secretory multiple myeloma. Ann. Haematol 99 : 1251-1255, 2020.
 
11) Avet-Loiseau H, Garand R, Lode L, et al : Translocation t (11 ; 14) (q13 ; q32) is the hallmark of IgM, IgE, and nonsecretory multiple myeloma variants. Blood 101 : 1570-1571, 2003.
PubMed
12) Charlinski G, Jurczyszyn A : Non-secretory multiple myeloma : Diagnosis and management. Adv Clin Exp Med 31 : 95-100, 2022.
PubMed
13) Chawla SS, Kumar SK, Dispenzieri A, et al : Clinical course and prognosis of non-secretory multiple myeloma. Eur J Haematol 95 : 57-64, 2015.
PubMed
14) Kumar S, Perez WS, Zhang MJ, et al : Comparable outcomes in nonsecretory and secretory multiple myeloma after autologous stem cell transplantation. Biol Blood Marrow Transplant 14 : 1134-1140, 2008.
PubMed
P.48 掲載の参考文献
1) Bansal R, Rakshit S, Kumar S : Extramedullary disease in multiple myeloma. Blood Cancer J 11 : 161, 2021.
 
2) Wu P, Davies FE, Boyd K, et al : The impact of extramedullary disease at presentation on the outcome of myeloma. Leuk Lymphoma 50 : 230-235, 2009.
PubMed
3) Lee SE, Kim JH, Jeon YW, et al : Impact of extramedullary plasmacytomas on outcomes according to treatment approach in newly diagnosed symptomatic multiple myeloma. Ann Hematol 94 : 445-452, 2015.
PubMed
4) Paludo J, Painuly U, Kumar S, et al : Myelomatous Involvement of the Central Nervous System. Clin Lymphoma Myeloma Leuk 16 : 644-654, 2016.
PubMed
5) Varettoni M, Corso A, Pica G, et al : Incidence, presenting features and outcome of extramedullary disease in multiple myeloma : a longitudinal study on 1003 consecutive patients. Ann Oncol 21 : 325-330, 2010.
PubMed
6) Furukawa Y, Kikuchi J : Molecular basis of clonal evolution in multiple myeloma. Int J Hematol 111 : 496-511, 2020.
PubMed
7) Rasche L, Chavan SS, Stephens OW, et al : Spatial genomic heterogeneity in multiple myeloma revealed by multi-region sequencing. Nat Commun 8 : 268, 2017.
PubMed
8) Bhutani M, Foureau DM, Atrash S, et al : Extramedullary multiple myeloma. Leukemia 34 : 1-20, 2020.
PubMed
9) Kremer M, Ott G, Nathrath M, et al : Primary extramedullary plasmacytoma and multiple myeloma : phenotypic differences revealed by immunohistochemical analysis. J Pathol 205 : 92-101, 2005.
PubMed
10) Besse L, Sedlarikova L, Greslikova H, et al : Cytogenetics in multiple myeloma patients progressing into extramedullary disease. Eur J Haematol 97 : 93-100, 2016.
PubMed
11) Dimopoulos M, Terpos E, Comenzo RL, et al : International myeloma working group consensus statement and guidelines regarding the current role of imaging techniques in the diagnosis and monitoring of multiple Myeloma. Leukemia 23 : 1545-1556, 2009.
 
12) Landau H, Pandit-Taskar N, Hassoun H, et al : Bortezomib, liposomal doxorubicin and dexamethasone followed by thalidomide and dexamethasone is an effective treatment for patients with newly diagnosed multiple myeloma with Internatinal Staging System stage II or III, or extramedullary disease. Leuk Lymphoma 53 : 275-281, 2012.
 
13) Lakshman A, Singh PP, Rajkumar SV, et al : Efficacy of VDT PACE-like regimens in treatment of relapsed/refractory multiple myeloma. Am J Hematol 93 : 179-186, 2018.
PubMed
14) Li Y, Sun Z, Qu X : Advances in the treatment of extramedullary disease in multiple myeloma. Transl Oncol 22 : 101465, 2022.
PubMed
15) Deng H, Liu M, Yuan T, et al : Efficacy of Humanized Anti-BCMA CAR T Cell Therapy in Relapsed/Refractory Multiple Myeloma Patients With and Without Extramedullary Disease. Front Immunol 12 : 720571, 2021.
 
P.52 掲載の参考文献
1) Weiss MJ, Edmondson HA, Wertman M : Elevated serum amylase associated with bronchogenic carcinoma ; report of case. Am J Clin Pathol 21 : 1057-1061, 1951.
 
2) Yanagitani N, Kaira K, Sunaga N, et al : Serum amylase is a sensitive tumor marker for amylase-producing small cell lung cancer? Int J Clin Oncol 12 : 231-233, 2007.
PubMed
3) 青田泰雄, 後藤明彦, 奥田優子, ほか : 繰り返す再燃にpomalidomide, carfilzomibが奏効したアミラーゼ産生型多発性骨髄腫. 臨床血液 59 : 865-871, 2018.
 
4) Hata H, Matsuzaki H, Tanaka K, et al : Ectopic production of salivary-type amylase by a IgA-lambda-type multiple myeloma. Cancer 62 : 1511-1515, 1988.
PubMed
5) Matsuzaki H, Hata H, Takeya M, et al : Establishment and characterization of an amylase-producing human myeloma cell line. Blood 72 : 978-982, 1988.
PubMed
6) Zabel BU, Naylor SL, Sakaguchi AY, et al : High-resolution chromosomal localization of human genes for amylase, proopiomelanocortin, somatostatin, and a DNA fragment (D3S1) by in situ hybridization. Proc Natl Acad Sci USA 80 : 6932-6936, 1983.
 
7) 森美奈子, 丸岡隼人, 永井雄也, ほか : アミラーゼ産生型多発性骨髄腫. 臨床血液 48 : 1484-1488, 2007.
 
8) 刀塚俊起, 小川良一, 藤井康和, ほか : 唾液型アミラーゼ産生IgA, λ-type 多発性骨髄腫でMDR-1/P糖蛋白陽性を示した1症例. 臨床血液 32 : 686-689, 1991.
 
9) 山川珠美, 名越温古, 高橋敦, ほか : 放射線治療によるアミラーゼ産生性の誘導が示唆された多発性骨髄腫. 臨床血液 36 : 1175-1181, 1995.
 
10) Mona M, Miller R, Li H, et al : MIST1, an Inductive Signal for Salivary Amylase in Mesenchymal Stem Cells. Int J Mol Sci 20 : 767, 2019.
PubMed
11) 森山隆則, 戸沢辰雄, 松野一彦, ほか : 腫瘍産生アミラーゼ. 臨床病理 50 : 566-570, 2002.
Medical*Online
12) 花村一朗 : 多発性骨髄腫の分子病態研究の進歩. 臨床血液 60 : 1236-1242, 2019.
 
13) Pinelli M, Bindi M, Rosada J, et al : Amylase : a disease activity index in multiple myeloma? Leuk Lymphoma 47 : 151-154, 2006.
PubMed
14) 三村尚也 : 多発性骨髄腫に対する新規エピジェネティック治療. 臨床血液 62 : 314-320, 2021.
 
15) 水野昌平, 花村一朗, 太田明伸, ほか : MM細胞株を用いた異所性アミラーゼ安定的発現株の樹立とその性状解析. International Journal of Myeloma 4 : 66, 2014.
 
P.56 掲載の参考文献
1) Fujiwara H, Arima N, Ohtsubo H, et al : Clinical significance of serum neuron-specific enolase in patients with adult T-cell leukemia. Am J Hematol 71 : 80-84, 2002.
PubMed
2) Nakajima T, Noguchi T, Kumahara Y, et al : [Neuron specific enolase-producing IgD multiple myeloma with high serum amylase activity]. Rinsho Ketsueki 36 : 359-364, 1995.
PubMed
3) Jimbo J, Sato K, Ikuta K, et al : [A neuron specific enolase-producing multiple myeloma]. Rinsho Ketsueki 47 : 1381-1386, 2006.
PubMed
4) Sharma RA, Wotherspoon AC, Cook G, et al : Neuron-specific enolase expression in multiple myeloma. Lancet Oncol 7 : 960, 2006.
PubMed
5) Zhang YZ, Hou J, Wei W : [The role of serum neuron specific enolase activity in the prognosis of onset multiple myeloma]. Zhonghua Xue Ye Xue Za Zhi 33 : 417-419, 2012.
 
6) Wong AH, Shin EM, Tergaonkar V, et al : Targeting NF-κB Signaling for Multiple Myeloma. Cancers (Basel) 12 : 2203, 2020.
 
7) Yang H, Mi R, Wang Q, et al : Expression of neuron-specific enolase in multiple myeloma and implications for clinical diagnosis and treatment. PLoS One 9 : e94304, 2014.
PubMed
P.60 掲載の参考文献
1) 戸川敦 : 骨髄腫の分類. 改訂多発性骨髄腫, p25-26, 新興医学出版社, 2002.
 
2) 日本骨髄腫学会 (編) : 多発性骨髄腫の診療指針 第5版, p119, 文光堂, 2020.
 
3) Kyle RA, Robinson RA, Katzmann JA : The clinical aspects of biclonal gammopathies. Review of 57 cases. Am J Med 71 : 999-1008, 1981.
PubMed
4) 尾林博, 加納正, 島崎千尋, ほか : Double gammopathy 13例の検討. 臨床病理 39 : 661-665, 1991.
Medical*Online
5) Ray RA, Schotters SB, Jacobs A, et al : Triclonal gammopathy in a patient with plasma cell dyscrasia. Clin Chem 32 : 205-206, 1986.
 
6) Goldrosen MH, Pruzanski W, Freedman MH : Structural and immunological studies of two IgG1-lambda myeloma proteins from a single patient. Immunochemistry 9 : 387-404, 1972.
PubMed
7) Bouvet JP, Buffe D, Oriol R, et al : Two myeloma globulins IgG1-kappa and IgG1-lambda, from a single patient (Im). II. Their common cellular origin as revealed by immunofluorescence studies. Immunology 27 : 1095-1101, 1974.
PubMed
8) 今井裕一, ほか : 2つのM蛋白 (IgA-κ, IgA-λ) を有し, 尿中Bence Jones蛋白 (λ型) 陽性を示した肺癌の1例. 臨床血液 23 : 1578-1583, 1982.
 
9) Saito N, Hirai K, Torimoto Y, et al : Plural immunoglobulin synthesis in a single cell : an ultrastructural study of two cases with three M-proteins. Ultrastruct Pathol 22 : 421-429, 1998.
 
10) Yang Z, Harrison K, Park YA, et al : Performance of the Sebia CAPILLARYS 2 for detection and immunotyping of serum monoclonal paraproteins. Am J Clin Pathol 128 : 293-299, 2007.
PubMed
11) Bradwell AR : Biclonal gammopathies of different light chain types. In : Serum Free Light Chain Analysis (plus Heavylite), 6th edition (ed by Bradwell AR), p238, The Binding Site, Birmingham, 2010.
 
12) Durie BG, Harousseau JL, Miguel JS, et al : International uniform response criteria for multiple myeloma. Leukemia 20 : 1467-1473, 2006.
PubMed
13) Rajkumar SV, Harousseau JL, Durie B, et al : Consensus recommendations for the uniform reporting of clinical trials : report of the International Myeloma Workshop Consensus Panel 1. Blood 117 : 4691-4695, 2011.
PubMed
14) 小笠原壽恵, 安山雅子, 川内喜代隆, ほか : Biclonal light chain を伴った多発性骨髄腫の1例. 日本臨床免疫学会会誌 25 : 170-176, 2002.
Medical*Online
15) 加納正, 平清水一範 : 骨髄腫の病態の多様性と予後. 臨床血液 34 : 439-443, 1993.
 
P.64 掲載の参考文献
1) 角田三郎, 佐々木龍平, 三輪哲義, ほか : 昏睡, 過粘稠症候群, 高アンモニア血症, 骨髄線維症を伴った (IgG, λ型) 多発性骨髄腫の1例. 臨床血液 30 : 361-365, 1989.
 
2) Mitchell RB, Wagner JE, Karp JE, et al : Syndrome of idiopathic hyperammonemia after high-dose chemotherapy : review of nine cases. Am J Med 85 : 662-667, 1988.
PubMed
3) Matsuzaki H, Hata H, Sonoki T, et al : Serum amino acid disturbance in multiple myeloma with hyperammonemia. Int J Hematol 61 : 131-137, 1995.
PubMed
4) 大槻剛巳, 八幡義人 : アンモニア産生骨髄腫. 臨床検査 42 : 90-94, 1998.
 
5) Matsuzaki H, Matsuno F, Yoshida M, et al : Human myeloma cell line (KHM-4) established from a patient with multiple myeloma associated with hyperammonemia. Intern Med 31 : 339-343, 1992.
PubMed
6) Matsuno F, Matsuzaki H, Akahoshi Y, et al : A novel ornithine transcarbamylase present in mycoplasma-infected myeloma cells. Enzyme Protein 47 : 57-64, 1993.
PubMed
7) Otsuki T, Nakazawa N, Taniwaki M, et al : Establishment of a new human myeloma cell line, KMS-18, having t (4 ; 14) (p16.3 ; q32.3) derived from a case phenotypically transformed from IgA-lambda to BJP-lambda, and associated with hyperammonemia. Int J Oncol 12 : 545-552, 1998.
 
8) Puchades-Carrasco L, Lecumberri R, Martinez-Lopez J, et al : Multiple myeloma patients have a specific serum metabolomic profile that changes after achieving complete remission. Clin Cancer Res 19 : 4770-4779, 2013.
 
9) Bolzoni M, Chiu M, Accardi F, et al : Dependence on glutamine uptake and glutamine addiction characterize myeloma cells : a new attractive target. Blood 128 : 667-679, 2016.
 
10) Caminal L, Castellanos E, Mateos V, et al : Hyperammonaemic encephalopathy as the presenting feature of IgD multiple myeloma. J Intern Med 233 : 277-279, 1993.
PubMed
11) 河野文夫, 塚本敦子, 佐藤昌彦, ほか : 高アンモニア血症を伴った非分泌型原発性形質細胞性白血病の1例. 臨床血液 32 : 399-403, 1991.
 
12) 児玉佳之, 小西徹夫, 長岡康裕, ほか : がん終末期患者における血中アンモニアに関する考察. Palliative Care Research 10 : 168-173, 2015.
 
13) Pham A, Reagan JL, Castillo JJ : Multiple myeloma-induced hyperammonemic encephalopathy : an entity associated with high in-patient mortality. Leuk Res 37 : 1229-1232, 2013.
PubMed
14) Ikewaki J, Ogata M, Imamura T, et al : Development of hyperammonemic encephalopathy in patients with multiple myeloma may be associated with the appearance of peripheral blood myeloma cells. Leuk Lymphoma 50 : 667-669, 2009.
PubMed
15) Takimoto Y, Imanaka F, Hayashi Y, et al : A patient with ammonia-producing multiple myeloma showing hyperammonemic encephalopathy. Leukemia 10 : 918-919, 1996.
PubMed
16) Kuribayashi N, Matsuzaki H, Hata H, et al : Multiple myeloma associated with serum amino acid disturbance and high output cardiac failure. Am J Hematol 57 : 77-81, 1998.
PubMed
17) 三輪哲義 : 多発性骨髄腫に対する支持療法-骨障害対策, 腎障害対策, 骨髄不全対策, 高粘稠度症候群対策, 高アンモニア血症対策, 造血幹細胞移植時のcryotherapy, NSTなどを中心に-. 日本臨牀 70 (増刊2 : 造血器腫瘍学) : 603-627, 2012.
 
P.69 掲載の参考文献
1) Gonsalves WI, Rajkumar SV, Go RS, et al : Trends in survival of patients with primary plasma cell leukemia : a population-based analysis. Blood 124 : 907-912, 2014.
PubMed
2) Perez-Andres M, Almeida J, Martin-Ayuso M, et al : Clonal plasma cells from monoclonal gammopathy of undetermined significance, multiple myeloma and plasma cell leukemia show different expression profiles of molecules involved in the interaction with the immunological bone marrow microenvironment. Leukemia 19 : 449-455, 2005.
 
3) Rojas EA, Gutierrez NC : Genomics of Plasma Cell Leukemia. Cancers (Basel) 14 : 1594, 2022.
PubMed
4) Hofste Op Bruinink D, Kuiper R, van Duin M, et al : Identification of High-Risk Multiple Myeloma With a Plasma Cell Leukemia-Like Transcriptomic Profile. J Clin Oncol 40 : 3132-3150, 2022.
PubMed
5) Granell M, Calvo X, Garcia-Guinon A, et al : Prognostic impact of circulating plasma cells in patients with multiple myeloma : implications for plasma cell leukemia definition. Haematologica 102 : 1099-1104, 2017.
PubMed
6) Ravi P, Kumar SK, Roeker L, et al : Revised diagnostic criteria for plasma cell leukemia : results of a Mayo Clinic study with comparison of outcomes to multiple myeloma. Blood Cancer J 8 : 116, 2018.
 
7) Garces JJ, Cedena MT, Puig N, et al : Circulating Tumor Cells for the Staging of Patients With Newly Diagnosed Transplant-Eligible Multiple Myeloma. J Clin Oncol 40 : 3151-3161, 2022.
PubMed
8) Bertamini L, Oliva S, Rota-Scalabrini D, et al : High Levels of Circulating Tumor Plasma Cells as a Key Hallmark of Aggressive Disease in Transplant-Eligible Patients With Newly Diagnosed Multiple Myeloma. J Clin Oncol 40 : 3120-3131, 2022.
PubMed
9) Mina R, Joseph NS, Kaufman JL, et al : Survival outcomes of patients with primary plasma cell leukemia (pPCL) treated with novel agents. Cancer 125 : 416-423, 2019.
PubMed
10) van de Donk NWCJ, Minnema MC, van der Holt B, et al : Treatment of primary plasma cell leukaemia with carfilzomib and lenalidomide-based therapy (EMN12/HOVON-129) : final analysis of a non-randomised, multicentre, phase 2 study. Lancet Oncol 24 : 1119-1133, 2023.
PubMed
11) Parrondo RD, Moustafa MA, Reeder C, et al : Efficacy of Daratumumab-Based Regimens for the Treatment of Plasma Cell Leukemia. Clin Lymphoma Myeloma Leuk 21 : 355-360, 2021.
PubMed
12) Dhakal B, Patel S, Girnius S, et al : Hematopoietic cell transplantation utilization and outcomes for primary plasma cell leukemia in the current era. Leukemia 34 : 3338-3347, 2020.
PubMed
13) Kaiser MF, Hall A, Walker K, et al : Daratumumab, Cyclophosphamide, Bortezomib, Lenalidomide, and Dexamethasone as Induction and Extended Consolidation Improves Outcome in Ultra-High-Risk Multiple Myeloma. J Clin Oncol 41 : 3945-3955, 2023.
PubMed
14) Katodritou E, Kastritis E, Dalampira D, et al : Improved survival of patients with primary plasma cell leukemia with VRd or daratumumab-based quadruplets : A multicenter study by the Greek myeloma study group. Am J Hematol 98 : 730-738, 2023.
PubMed
15) Yan W, Fan H, Xu J, et al : The clinical characteristics and prognosis of patients with primary plasma cell leukemia (pPCL) according to the new IMWG definition criteria. Leuk Lymphoma 63 : 2955-2964, 2022.
 
P.74 掲載の参考文献
1) Treon SP, Tedeschi A, San-Miguel J, et al : Report of consensus Panel 4 from the 11th International Workshop on Waldenstrom's macroglobulinemia on diagnostic and response criteria. Semin Hematol 60 : 97-106, 2023.
PubMed
2) McMaster ML : The epidemiology of Waldenstrom macroglobulinemia. Semin Hematol 60 : 65-72, 2023.
PubMed
3) 関口直宏 : 原発性マクログロブリン血症-Japanese perception-. 臨床血液 60 : 988-997, 2019.
 
4) Kristinsson SY, Bjorkholm M, Goldin LR, et al : Risk of lymphoproliferative disorders among first-degree relatives of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia patients : a population-based study in Sweden. Blood 112 : 3052-3056, 2008.
PubMed
5) Treon SP, Xu L, Yang G, et al : MYD88 L265P somatic mutation in Waldenstrom's macroglobulinemia. N Engl J Med 367 : 826-833, 2012.
 
6) Xu L, Hunter ZR, Tsakmaklis N, et al : Clonal architecture of CXCR4 WHIM-like mutations in Waldenstrom Macroglobulinaemia. Br J Haematol 172 : 735-744, 2016.
PubMed
7) Ocio EM, Schop RF, Gonzalez B, et al : 6q deletion in Waldenstrom macroglobulinemia is associated with features of adverse prognosis. Br J Haematol 136 : 80-86, 2007.
PubMed
8) Dimopoulos MA, Kastritis E, Owen RG, et al : Treatment recommendations for patients with Waldenstrom macroglobulinemia (WM) and related disorders : IWWM-7 consensus. Blood 124 : 1404-1411, 2014.
PubMed
9) 日本血液学会 (編) : リンパ形質細胞性リンパ腫/ワルデンシュトレームマクログロブリン血症 (LPL/WM). 造血器腫瘍診療ガイドライン 2023年版, P258-265, 金原出版, 2023.
 
10) Rummel MJ, Niederle N, Maschmeyer G, et al : Bendamustine plus rituximab versus CHOP plus rituximab as first-line treatment for patients with indolent and mantle-cell lymphomas : an open-label, multicentre, randomised, phase 3 non-inferiority trial. Lancet 381 : 1203-1210, 2013.
PubMed
11) Paludo J, Abeykoon JP, Shreders A, et al : Bendamustine and rituximab (BR) versus dexamethasone, rituximab, and cyclophosphamide (DRC) in patients with Waldenstrom macroglobulinemia. Ann Hematol 97 : 1417-1425, 2018.
PubMed
12) Treon SP, Ioakimidis L, Soumerai JD, et al : Primary therapy of Waldenstrom macroglobulinemia with bortezomib, dexamethasone, and rituximab : WMCTG clinical trial 05-180. J Clin Oncol 27 : 3830-3835, 2009.
PubMed
13) Treon SP, Meid K, Gustine J, et al : Long-Term Follow-Up of Ibrutinib Monotherapy in Symptomatic, Previously Treated Patients With Waldenstrom Macroglobulinemia. J Clin Oncol 39 : 565-575, 2021.
PubMed
14) Dimopoulos MA, Tedeschi A, Trotman J, et al : Phase 3 Trial of Ibrutinib plus Rituximab in Waldenstrom's Macroglobulinemia. N Engl J Med 378 : 2399-2410, 2018.
PubMed
15) Sekiguchi N, Rai S, Munakata W, et al : Two-year outcomes of tirabrutinib monotherapy in Waldenstrom's macroglobulinemia. Cancer Sci 113 : 2085-2096, 2022.
PubMed
16) Kastritis E, Morel P, Duhamel A, et al : A revised international prognostic score system for Waldenstrom's macroglobulinemia. Leukemia 33 : 2654-2661, 2019.
PubMed
P.79 掲載の参考文献
1) Alaggio R, Amador C, Anagnostopoulos I, et al : The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours : Lymphoid Neoplasms. Leukemia 36 : 1720-1748, 2022.
PubMed
2) Campo E, Jaffe ES, Cook JR, et al : The International Consensus Classification of Mature Lymphoid Neoplasms : a report from the Clinical Advisory Committee. Blood 140 : 1229-1253, 2022.
PubMed
3) Pettersson D, Mellstedt H, Holm G : Characterization of the monoclonal blood and bone marrow B lymphocytes in Waldenstrom's macroglobulinaemia. Scand J Immunol 11 : 593-599, 1980.
PubMed
4) Smith BR, Robert NJ, Ault KA : In Waldenstrom's macroglobulinemia the quantity of detectable circulating monoclonal B lymphocytes correlates with clinical course. Blood 61 : 911-914, 1983.
PubMed
5) Montesdeoca S, Garcia-Gisbert N, Calvo X, et al : Leukemic Involvement Is a Common Feature in Waldenstrom Macroglobulinemia at Diagnosis. Cancers (Basel) 15 : 4152, 2023.
 
6) Nalin A, Zhao Q, Voorhees T, et al : Impact of circulating lymphoma cells at diagnosis on outcomes in patients with Waldenstrom macroglobulinemia. Front Oncol 13 : 1264387, 2023.
PubMed
7) Treon SP, Xu L, Yang G, et al : MYD88 L265P somatic mutation in Waldenstrom's macroglobulinemia. N Engl J Med 367 : 826-833, 2012.
 
8) Treon SP, Cao Y, Xu L, et al : Somatic mutations in MYD88 and CXCR4 are determinants of clinical presentation and overall survival in Waldenstrom macroglobulinemia. Blood 123 : 2791-2796, 2014.
PubMed
9) de Tute RM, Rawstron AC, Owen RG : Immunoglobulin M concentration in Waldenstrom macroglobulinemia : Correlation with bone marrow B cells and plasma cells. Clin Lymphoma Myeloma Leuk 13 : 211-213, 2013.
PubMed
10) Menke MN, Feke GT, McMeel JW, et al : Ophthalmologic techniques to assess the severity of hyperviscosity syndrome and the effect of plasmapheresis in patients with Waldenstrom's macroglobulinemia. Clin Lymphoma Myeloma 9 : 100-103, 2009.
PubMed
11) Forgeard N, Baron M, Caron J, et al : Inflammation in Waldenstrom macroglobulinemia is associated with 6q deletion and need for treatment initiation. Haematologica 107 : 2720-2724, 2022.
PubMed
12) 関口直宏 : 原発性マクログロブリン血症-Japanese perception-. 臨床血液 60 : 988-997, 2019.
 
13) Kastritis E, Morel P, Duhamel A, et al : A revised international prognostic score system for Waldenstrom's macroglobulinemia. Leukemia 33 : 2654-2661, 2019.
PubMed
P.84 掲載の参考文献
1) Alaggio R, Amador C, Anagnostopoulos I, et al : The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours : Lymphoid Neoplasms. Leukemia 36 : 1720-1748, 2022.
PubMed
2) Sahota SS, Forconi F, Ottensmeier CH, et al : Origins of the malignant clone in typical Waldenstrom's macroglobulinemia. Semin Oncol 30 : 136-141, 2003.
PubMed
3) Martin-Jimenez P, Garcia-Sanz R, Balanzategui A, et al : Molecular characterization of heavy chain immunoglobulin gene rearrangements in Waldenstrom's macroglobulinemia and IgM monoclonal gammopathy of undetermined significance. Haematologica 92 : 635-642, 2007.
PubMed
4) Braggio E, Keats JJ, Leleu X, et al : Identification of copy number abnormalities and inactivating mutations in two negative regulators of nuclear factor-kappaB signaling pathways in Waldenstrom's macroglobulinemia. Cancer Res 69 : 3579-3588, 2009.
PubMed
5) Treon SP, Xu L, Yang G, et al : MYD88 L265P somatic mutation in Waldenstrom's macroglobulinemia. N Engl J Med 367 : 826-833, 2012.
 
6) Shaheen SP, Talwalkar SS, Lin P, et al : Waldenstrom macroglobulinemia : a review of the entity and its differential diagnosis. Adv Anat Pathol 19 : 11-27, 2012.
 
7) Toh HC, Ang PT : Primary pulmonary lymphoma-clinical review from a single institution in Singapore. Leuk Lymphoma 27 : 153-163, 1997.
PubMed
8) Habermann TM, Ryu JH, Inwards DJ, et al : Primary pulmonary lymphoma. Semin Oncol 26 : 307-315, 1999.
PubMed
9) Kyrtsonis MC, Angelopoulou MK, Kontopidou FN, et al : Primary lung involvement in Waldenstrom's macroglobulinaemia : report of two cases and review of the literature. Acta Haematol 105 : 92-96, 2001.
PubMed
10) Rosenthal JA, Curran WJ Jr, Schuster SJ : Waldenstrom's macroglobulinemia resulting from localized gastric lymphoplasmacytoid lymphoma. Am J Hematol 58 : 244-245, 1998.
PubMed
11) Brandt LJ, Davidoff A, Bernstein LH, et al : Small-intestine involvement in Waldenstrom's macroglobulinemia. Case report and review of the literature. Dig Dis Sci 26 : 174-180, 1981.
PubMed
12) Gressier L, Hotz C, Lelievre JD, et al : Cutaneous macroglobulinosis : a report of 2 cases. Arch Dermatol 146 : 165-169, 2010.
PubMed
13) Nomura S, Kanoh T : Localized form of Waldenstrom's macroglobulinemia : long-term follow-up study. Tohoku J Exp Med 153 : 37-42, 1987.
PubMed
14) Kastritis E, Morel P, Duhamel A, et al : A revised international prognostic score system for Waldenstrom's macroglobulinemia. Leukemia 33 : 2654-2661, 2019.
PubMed
15) リンパ形質細胞性リンパ腫/ワルデンシュトレームマクログロブリン血症 (lymphoplasmacytic lymphoma/Waldenstrom's macroglobulinemia : LPL/WM). 造血器腫瘍診療ガイドライン 2023年版 (日本血液学会編), p258-259, 金原出版, 2023.
 
P.89 掲載の参考文献
1) Kracker S, Gardes P, Mazerolles F, et al : Immunoglobulin class switch recombination deficiencies. Clin Immunol 135 : 193-203, 2010.
PubMed
2) Winkelstein JA, Marino MC, Ochs H, et al : The X-linked hyper-IgM syndrome : clinical and immunologic features of 79 patients. Medicine (Baltimore) 82 : 373-384, 2003.
PubMed
3) Mitsui-Sekinaka K, Imai K, Sato H, et al : Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan. J Allergy Clin Immunol 136 : 1018-1024, 2015.
PubMed
4) Davies EG, Thrasher AJ : Update on the hyper immunoglobulin M syndromes. Br J Haematol 149 : 167-180, 2010.
PubMed
5) Notarangelo LD, Lanzi G, Peron S, et al : Defects of class-switch recombination. J Allergy Clin Immunol 117 : 855-864, 2006.
PubMed
6) Al-Saud BK, Al-Sum Z, Alassiri H, et al : Clinical, immunological, and molecular characterization of hyper-IgM syndrome due to CD40 deficiency in eleven patients. J Clin Immunol 33 : 1325-1335, 2013.
PubMed
7) Durandy A, Peron S, Fischer A : Hyper-IgM syndromes. Curr Opin Rheumatol 18 : 369-376, 2006.
PubMed
8) Liese JG, Wintergerst U, Tympner KD, et al : High- vs low-dose immunoglobulin therapy in the long-term treatment of X-linked agammaglobulinemia. Am J Dis Child 146 : 335-339, 1992.
 
9) de la Morena MT, Leonard D, Torgerson TR, et al : Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. J Allergy Clin Immunol 139 : 1282-1292, 2017.
PubMed
10) Ferrua F, Galimberti S, Courteille V, et al : Hematopoietic stem cell transplantation for CD40 ligand deficiency : Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study. J Allergy Clin Immunol 143 : 2238-2253, 2019.
PubMed
11) Gennery AR, Khawaja K, Veys P, et al : Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation : a survey of the European experience, 1993-2002. Blood 103 : 1152-1157, 2004.
PubMed
P.92 掲載の参考文献
1) Wahner-Roedler DL, Kyle RA : Heavy chain diseases. Best Pract Res Clin Haematol 18 : 729-746, 2005.
PubMed
2) Evangelista-Leite D, Affonso Madaloso B, Shouta Yamashita B, et al : Treating chronic diarrhea : A systematic review on Immunoproliferative Small Intestinal Disease (IPSID). PLoS One 16 : e0253695, 2021.
PubMed
3) AlYamany R, Kharfan-Dabaja MA, Hamadani M, et al : The Evolution of Our Understanding of Immunoproliferative Small Intestinal Disease (IPSID) over Time. Curr Oncol 29 : 3759-3769, 2022.
PubMed
4) Cook JR, et al : Heavy chain diseases. In : WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues, revised 4th edition, (ed by Swerdlow SH, Campo E, Harris NL, et al) p237-240, IARC Press, Lyon, 2017.
 
5) Florin-Christensen A, Doniach D, Newcomb PB : Alpha-chain disease with pulmonary manifestations. Br Med J 2 : 413-415, 1974.
PubMed
6) Pervez S, Mumtaz K, Ullah SS, et al : Immunoproliferative small intestinal disease (IPSID). J Coll Physicians Surg Pak 21 : 57-58, 2011.
PubMed
7) Bianchi G, Sohani AR : Heavy Chain Disease of the Small Bowel. Curr Gastroenterol Rep 20 : 3, 2018.
PubMed
8) Galian A, Lecestre MJ, Scotto J, et al : Pathological study of alpha-chain disease, with special emphasis on evolution. Cancer 39 : 2081-2101, 1977.
PubMed
9) Singer S, Efebera Y, Bumma N, et al : Heavy Lifting : Nomenclature and Novel Therapy for Gamma Heavy Chain Disease and Other Heavy Chain Disorders. Clin Lymphoma Myeloma Leuk 20 : 493-498, 2020.
PubMed
10) Wahner-Roedler DL, Witzig TE, Loehrer LL, et al : Gamma-heavy chain disease : review of 23 cases. Medicine (Baltimore) 82 : 236-250, 2003.
PubMed
11) Fermand JP, Brouet JC, Danon F, et al : Gamma heavy chain "disease" : heterogeneity of the clinicopathologic features. Report of 16 cases and review of the literature. Medicine (Baltimore) 68 : 321-335, 1989.
PubMed
12) Hamadeh F, MacNamara S, Bacon CM, et al : Gamma heavy chain disease lacks the MYD88 L265P mutation associated with lymphoplasmacytic lymphoma. Haematologica 99 : e154-155, 2014.
PubMed
13) Forte FA, Prelli F, Yount WJ, et al : Heavy chain disease of the gamma (gamma M) type : report of the first case. Blood 36 : 137-144, 1970.
 
14) Wahner-Roedler DL, Kyle RA : Mu-heavy chain disease : presentation as a benign monoclonal gammopathy. Am J Hematol 40 : 56-60, 1992.
PubMed
15) Maeda A, Mori M, Torii S, et al : Multiple extranodal tumors in mu-heavy chain disease. Int J Hematol 84 : 286-287, 2006.
PubMed
16) Baloda V, Wheeler SE, Murray DL, et al : Mu heavy chain disease with MYD88 L265P mutation : an unusual manifestation of lymphoplasmacytic lymphoma. Diagn Pathol 17 : 63, 2022.
PubMed
17) Vergneault H, Bengoufa D, Frazier-Mironer A, et al : Light chain proteinuria revealing muheavy chain disease : an atypical presentation of Waldenstrom macroglobulinemia in two cases. Haematologica 106 : 2034-2036, 2021.
PubMed
18) Fischbach W, Tacke W, Greiner A, et al : Regression of immunoproliferative small intestinal disease after eradication of Helicobacter pylori. Lancet 349 : 31-32, 1997.
PubMed
19) Al-Saleem T, Al-Mondhiry H : Immunoproliferative small intestinal disease (IPSID) : a model for mature B-cell neoplasms. Blood 105 : 2274-2280, 2005.
 
20) Yanai M, Maeda A, Watanabe N, et al : Successful treatment of μ-heavy chain disease with fludarabine monophosphate : a case report. Int J Hematol 79 : 174-177, 2004.
 
P.97 掲載の参考文献
1) Gonsalves WI, Rajkumar SV : Monoclonal Gammopathy of Undetermined Significance. Ann Intern Med 175 : ITC177-ITC192, 2022.
PubMed
2) Kaur J, Valisekka SS, Hameed M, et al : Monoclonal Gammopathy of Undetermined Significance : A Comprehensive Review. Clin Lymphoma Myeloma Leuk 23 : e195-e212, 2023.
PubMed
3) Kyle RA, Therneau TM, Rajkumar SV, et al : Prevalence of monoclonal gammopathy of undetermined significance. N Engl J Med 354 : 1362-1369, 2006.
PubMed
4) Landgren O, Katzmann JA, Hsing AW, et al : Prevalence of monoclonal gammopathy of undetermined significance among men in Ghana. Mayo Clin Proc 82 : 1468-1473, 2007.
PubMed
5) Iwanaga M, Tagawa M, Tsukasaki K, et al : Prevalence of monoclonal gammopathy of undetermined significance : study of 52,802 persons in Nagasaki City, Japan. Mayo Clin Proc 82 : 1474-1479, 2007.
PubMed
6) Watanaboonyongcharoen P, Nakorn TN, Rojnuckarin P, et al : Prevalence of monoclonal gammopathy of undetermined significance in Thailand. Int J Hematol 95 : 176-181, 2012.
PubMed
7) Landgren O, Graubard BI, Katzmann JA, et al : Racial disparities in the prevalence of monoclonal gammopathies : a population-based study of 12,482 persons from the National Health and Nutritional Examination Survey. Leukemia 28 : 1537-1542, 2014.
PubMed
8) Landgren O, Graubard BI, Kumar S, et al : Prevalence of myeloma precursor state monoclonal gammopathy of undetermined significance in 12372 individuals 10-49 years old : a population-based study from the National Health and Nutritional Examination Survey. Blood Cancer J 7 : e618, 2017.
 
9) Atkin C, Reddy-Kolanu V, Drayson MT, et al : The prevalence and significance of monoclonal gammopathy of undetermined significance in acute medical admissions. Br J Haematol 189 : 1127-1135, 2020.
PubMed
10) Korde N, Kristinsson SY, Landgren O : Monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM) : novel biological insights and development of early treatment strategies. Blood 117 : 5573-5581, 2011.
PubMed
11) Nair S, Branagan AR, Liu J, et al : Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma. N Engl J Med 374 : 555-561, 2016.
PubMed
12) Landgren O, Kyle RA, Pfeiffer RM, et al : Monoclonal gammopathy of undetermined significance (MGUS) consistently precedes multiple myeloma : a prospective study. Blood 113 : 5412-5417, 2009.
PubMed
13) Rajkumar SV, Dimopoulos MA, Palumbo A, et al : International Myeloma Working Group updated criteria for the diagnosis of multiple myeloma. Lancet Oncol 15 : e538-e548, 2014.
 
14) Berenson JR, Anderson KC, Audell RA, et al : Monoclonal gammopathy of undetermined significance : a consensus statement. Br J Haematol 150 : 28-38, 2010.
PubMed
15) Kyle RA, Durie BG, Rajkumar SV, et al : Monoclonal gammopathy of undetermined significance (MGUS) and smoldering (asymptomatic) multiple myeloma : IMWG consensus perspectives risk factors for progression and guidelines for monitoring and management. Leukemia 24 : 1121-1127, 2010.
PubMed
16) Rajkumar SV, Kyle RA, Therneau TM, et al : Serum free light chain ratio is an independent risk factor for progression in monoclonal gammopathy of undetermined significance. Blood 106 : 812-817, 2005.
PubMed
P.103 掲載の参考文献
1) Leung N, Bridoux F, Nasr SH : Monoclonal Gammopathy of Renal Significance. N Engl J Med 384 : 1931-1941, 2021.
PubMed
2) 水野真一 : 多発性骨髄腫の腎病変とMGRS. 日内会誌 105 : 1224-1230, 2016.
 
3) Merlini G, Stone MJ : Dangerous small B-cell clones. Blood 108 : 2520-2530, 2006.
 
4) Leung N, Bridoux F, Hutchison CA, et al : Monoclonal gammopathy of renal significance : when MGUS is no longer undetermined or insignificant. Blood 120 : 4292-4295, 2012.
PubMed
5) Leung N, Bridoux F, Batuman V, et al : The evaluation of monoclonal gammopathy of renal significance : a consensus report of the International Kidney and Monoclonal Gammopathy Research Group. Nat Rev Nephrol 15 : 45-59, 2019.
 
6) Gozzetti A, Guarnieri A, Zamagni E, et al : Monoclonal gammopathy of renal significance (MGRS) : Real-world data on outcomes and prognostic factors. Am J Hematol 97 : 877-884, 2022.
PubMed
7) Klomjit N, Leung N, Fervenza F, et al : Rate and Predictors of Finding Monoclonal Gammopathy of Renal Significance (MGRS) Lesions on Kidney Biopsy in Patients with Monoclonal Gammopathy. J Am Soc Nephrol 31 : 2400-2411, 2020.
PubMed
8) 水野真一 : Onconephrologyにおける骨髄腫腎とMGRS. 血液内科 72 : 719-724, 2016.
 
9) Herrera GA, Teng J, Turbat-Herrera EA, et al : Understanding Mesangial Pathobiology in AL-Amyloidosis and Monoclonal Ig Light Chain Deposition Disease. Kidney Int Rep 5 : 1870-1893, 2020.
PubMed
10) Basnayake K, Stringer SJ, Hutchison CA, et al : The biology of immunoglobulin free light chains and kidney injury. Kidney Int 79 : 1289-1301, 2011.
PubMed
11) Joly F, Cohen C, Javaugue V, et al : Randall-type monoclonal immunoglobulin deposition disease : novel insights from a nationwide cohort study. Blood 133 : 576-587, 2019.
PubMed
12) Moulin B, Deret S, Mariette X, et al : Nodular glomerulosclerosis with deposition of monoclonal immunoglobulin heavy chains lacking C (H) 1. J Am Soc Nephrol 10 : 519-528, 1999.
 
13) Bridoux F, Leung N, Hutchison CA, et al : Diagnosis of monoclonal gammopathy of renal significance. Kidney Int 87 : 698-711, 2015.
PubMed
14) Steiner N, Gobel G, Suchecki P, et al : Monoclonal gammopathy of renal significance (MGRS) increases the risk for progression to multiple myeloma : an observational study of 2935 MGUS patients. Oncotarget 9 : 2344-2356, 2018.
PubMed
P.107 掲載の参考文献
1) 涌井秀樹 : 多発性骨髄腫と類縁疾患の腎障害. 臨床血液 54 : 1876-1887, 2013.
 
2) Sethi S, Rajkumar SV, D'Agati VD : The Complexity and Heterogeneity of Monoclonal Immunoglobulin-Associated Renal Diseases. J Am Soc Nephrol 29 : 1810-1823, 2018.
PubMed
3) Leung N, Bridoux F, Batuman V, et al : The evaluation of monoclonal gammopathy of renal significance : a consensus report of the International Kidney and Monoclonal Gammopathy Research Group. Nat Rev Nephrol 15 : 45-59, 2019.
 
4) Preud'homme JL, Aucouturier P, Touchard G, et al : Monoclonal immunoglobulin deposition disease (Randall type). Relationship with structural abnormalities of immunoglobulin chains. Kidney Int 46 : 965-972, 1994.
PubMed
5) Nasr SH, Valeri AM, Cornell LD, et al : Renal Monoclonal Immunoglobulin Deposition Disease : A Report of 64 Patients from a Single Institution. Clin J Am Soc Nephrol 7 : 231-239, 2012.
PubMed
6) Kourelis TV, Nasr SH, Dispenzieri A, et al : Outcomes of patients with renal monoclonal immunoglobulin deposition disease. Am J Hematol 91 : 1123-1128, 2016.
PubMed
7) Nara M, Komatsuda A, Sawamura M, et al : Long-term prognosis of monoclonal immunoglobulin-associated glomerular diseases with non-organized deposits : A report of 38 cases from a Japanese single center. Clin Nephrol 98 : 135-145, 2022.
PubMed
8) Masai R, Wakui H, Togashi M, et al : Clinicopathological features and prognosis in immunoglobulin light and heavy chain deposition disease. Clin Nephrol 71 : 9-20, 2009.
PubMed
9) Joly F, Cohen C, Javaugue V, et al : Randall-type monoclonal immunoglobulin deposition disease : novel insights from a nationwide cohort study. Blood 133 : 576-587, 2019.
PubMed
10) Cohen C, Joly F, Sibille A, et al : Randall-Type Monoclonal Immunoglobulin Deposition Disease : New Insights into the Pathogenesis, Diagnosis and Management. Diagnostics (Basel) 11 : 420, 2021.
PubMed
11) Oe Y, Soma J, Sato H, et al : Heavy chain deposition disease : an overview. Clin Exp Nephrol 17 : 771-778, 2013.
PubMed
12) Bridoux F, Javaugue V, Bender S, et al : Unravelling the immunopathological mechanisms of heavy chain deposition disease with implications for clinical management. Kidney Int 91 : 423-434, 2017.
PubMed
13) Jain A, Haynes R, Kothari J, et al : Pathophysiology and management of monoclonal gammopathy of renal significance. Blood Adv 3 : 2409-2423, 2019.
PubMed
14) Lin J, Markowitz GS, Valeri AM, et al : Renal monoclonal immunoglobulin deposition disease : the disease spectrum. J Am Soc Nephrol 12 : 1482-1492, 2001.
PubMed
15) Cohen C, Royer B, Javaugue V, et al : Bortezomib produces high hematological response rates with prolonged renal survival in monoclonal immunoglobulin deposition disease. Kidney Int 88 : 1135-1143, 2015.
PubMed
P.113 掲載の参考文献
1) Dispenzieri A : POEMS syndrome : Update on diagnosis, risk-stratification, and management. Am J Hematol 98 : 1934-1950, 2023.
PubMed
2) Kuwabara S, Dispenzieri A, Arimura K, et al : Treatment for POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes) syndrome. Cochrane Database Syst Rev 2012 : CD006828, 2012.
PubMed
3) Hashiguchi T, Arimura K, Matsumuro K, et al : Highly concentrated vascular endothelial growth factor in platelets in Crow-Fukase syndrome. Muscle Nerve 23 : 1051-1056, 2000.
PubMed
4) Abe D, Nakaseko C, Takeuchi M, et al : Restrictive usage of monoclonal immunoglobulin lambda light chain germline in POEMS syndrome. Blood 112 : 836-839, 2008.
PubMed
5) Kawajiri-Manako C, Mimura N, Fukuyo M, et al : Clonal immunoglobulin λ light-chain gene rearrangements detected by next generation sequencing in POEMS syndrome. Am J Hematol 93 : 1161-1168, 2018.
 
6) Nagao Y, Mimura N, Takeda J, et al : Genetic and transcriptional landscape of plasma cells in POEMS syndrome. Leukemia 33 : 1723-1735, 2019.
PubMed
7) Nasu S, Misawa S, Sekiguchi Y, et al : Different neurological and physiological profiles in POEMS syndrome and chronic inflammatory demyelinating polyneuropathy. J Neurol Neurosurg Psychiatry 83 : 476-479, 2012.
PubMed
8) Misawa S, Sato Y, Katayama K, et al : Vascular endothelial growth factor as a predictive marker for POEMS syndrome treatment response : retrospective cohort study. BMJ Open 5 : e009157, 2015.
PubMed
9) Pan Q, Li J, Li F, et al : Characterizing POEMS Syndrome with 18F-FDG PET/CT. J Nucl Med 56 : 1334-1337, 2015.
 
10) Humeniuk MS, Gertz MA, Lacy MQ, et al : Outcomes of patients with POEMS syndrome treated initially with radiation. Blood 122 : 68-73, 2013.
PubMed
11) Suichi T, Misawa S, Beppu M, et al : Prevalence, clinical profiles, and prognosis of POEMS syndrome in Japanese nationwide survey. Neurology 93 : e975-e983, 2019.
PubMed
12) Misawa S, Sato Y, Katayama K, et al : Safety and efficacy of thalidomide in patients with POEMS syndrome : a multicentre, randomised, double-blind, placebo-controlled trial. Lancet Neurol 15 : 1129-1137, 2016.
PubMed
13) Kawajiri-Manako C, Sakaida E, Ohwada C, et al : Efficacy and Long-Term Outcomes of Autologous Stem Cell Transplantation in POEMS Syndrome : A Nationwide Survey in Japan. Biol Blood Marrow Transplant 24 : 1180-1186, 2018.
PubMed
14) Ohwada C, Sakaida E, Kawajiri-Manako C, et al : Long-term evaluation of physical improvement and survival of autologous stem cell transplantation in POEMS syndrome. Blood 131 : 2173-2176, 2018.
PubMed
15) Muto T, Ohwada C, Takaishi K, et al : Safety and Efficacy of Granulocyte Colony-Stimulating Factor Monotherapy for Peripheral Blood Stem Cell Collection in POEMS Syndrome. Biol Blood Marrow Transplant 23 : 361-363, 2017.
PubMed
P.118 掲載の参考文献
1) Lipsker D, Rondeau M, Massard G, et al : The AESOP (adenopathy and extensive skin patch overlying a plasmacytoma) syndrome : report of 4 cases of a new syndrome revealing POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin changes) syndrome at a curable stage. Medicine (Baltimore) 82 : 51-59, 2003.
 
2) Dispenzieri A : POEMS syndrome : Update on diagnosis, risk-stratification, and management. Am J Hematol 98 : 1934-1950, 2023.
PubMed
3) Yan W, Lv R, Xu J, et al : Adenopathy and extensive skin patch overlying a plasmacytoma (AESOP) syndrome : a case report and literature review. Ann Hematol 103 : 339-341, 2024.
PubMed
4) Tremblay-Abel V, Bujold J, Delisle B : A case of relapsed systemic multiple myeloma mimicking adenopathy and extensive skin patch overlying a plasmacytoma. JAAD Case Rep 25 : 97-99, 2022.
PubMed
5) Sanchez EG, Ramos C, Ratnarajah K, et al : Adenopathy and extensive skin patch overlying plasmacytoma syndrome-the clue to early diagnosis of polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes : A case series and literature review. SAGE Open Med Case Rep 10 : 2050313X221091602, 2022.
PubMed
6) Rongioletti F, Failla MC, Atzori L, et al : Skin manifestations of POEMS and AESOP syndrome in the same patient revealing plasma cell dyscrasia. J Cutan Pathol 43 : 1167-1171, 2016.
PubMed
7) Marzolf G, Lenormand C, Michel C, et al : Adenopathy and extensive skin patch overlying a plasmacytoma (AESOP) : Two morphologic variants can be outlined. J Am Acad Dermatol 85 : 1286-1287, 2021.
PubMed
8) Lenormand C, Marzolf G, Lipsker D : AESOP syndrome : a potential life-saving and early clue to the diagnosis of POEMS syndrome. Clin Dermatol 39 : 215-219, 2021.
 
9) Foo CW, Florell SR, Petersen MJ : A variant of AESOP syndrome (adenopathy and extensive skin patch overlying a plasmacytoma) in a malignant blue-cell tumor. Arch Dermatol 148 : 1431-1432, 2012.
 
10) Farooq U, Choudhary S, McLeod MP, et al : Adenopathy and Extensive Skin Patch Overlying a Plasmacytoma (AESOP) Syndrome. J Clin Aesthet Dermatol 5 : 25-27, 2012.
PubMed
11) Dagrosa AT, Cowdrey MCE, LeBlanc RE, et al : Adenopathy and extensive skin patch overlying a plasmacytoma with unusual histologic findings in a patient with polyneuropathy, organomegaly, endocrinopathy, monoclonal protein and skin changes syndrome and Castleman disease. J Cutan Pathol 46 : 784-789, 2019.
 
12) Cordero SC, Miladi A, Summers DE, et al : Case report : challenges in the diagnosis of adenopathy and extensive skin patch overlying a plasmacytoma syndrome. Am J Dermatopathol 36 : e10-e13, 2014.
PubMed
13) Afra TP, Namitha R, Khader A, et al : Adenopathy and extensive skin patch overlying a plasmacytoma (AESOP) syndrome : erythrocyanotic vascular patches associated with an underlying rib plasmacytoma. Br J Dermatol 183 : e33, 2020.
PubMed
14) Imawari M, Akatsuka N, Ishibashi M, et al : Syndrome of plasma cell dyscrasia, polyneuropathy, and endocrine disturbances. Report of a case. Ann Intern Med 81 : 490-493, 1974.
 
P.123 掲載の参考文献
1) Masaki Y, Kawabata H, Fujimoto S, et al : Epidemiological analysis of multicentric and unicentric Castleman disease and TAFRO syndrome in Japan. J Clin Exp Hematop 59 : 175-178, 2019.
PubMed
2) Yoshizaki K, Matsuda T, Nishimoto N, et al : Pathogenic significance of interleukin-6 (IL-6/BSF-2) in Castleman's disease. Blood 74 : 1360-1367, 1989.
PubMed
3) Fajgenbaum DC, van Rhee F, Nabel CS : HHV-8-negative, idiopathic multicentric Castleman disease : novel insights into biology, pathogenesis, and therapy. Blood 123 : 2924-2933, 2014.
PubMed
4) キャッスルマン病診療ガイドライン 令和2年度初版. (キャッスルマン病診療ガイドライン作成ワーキンググループ編), 2020.
 
5) 吉崎和幸, 川上純 (編) : キャッスルマン病, TAFRO症候群, フジメディカル出版, 2022.
 
6) Fajgenbaum DC, Uldrick TS, Bagg A, et al : International, evidence-based consensus diagnostic criteria for HHV-8-negative/idiopathic multicentric Castleman disease. Blood 129 : 1646-1657, 2017.
PubMed
7) Dispenzieri A, Fajgenbaum DC : Overview of Castleman disease. Blood 135 : 1353-1364, 2020.
PubMed
8) Talat N, Belgaumkar AP, Schulte KM : Surgery in Castleman's disease : a systematic review of 404 published cases. Ann Surg 255 : 677-684, 2012.
PubMed
9) Nishimoto N, Kanakura Y, Aozasa K, et al : Humanized anti-interleukin-6 receptor antibody treatment of multicentric Castleman disease. Blood 106 : 2627-2632, 2005.
PubMed
10) Fajgenbaum DC, Langan RA, Japp AS, et al : Identifying and targeting pathogenic PI3K/AKT/mTOR signaling in IL-6-blockade-refractory idiopathic multicentric Castleman disease. J Clin Invest 129 : 4451-4463, 2019.
PubMed
11) Kojima M, Nakamura N, Tsukamoto N, et al : Clinical implications of idiopathic multicentric castleman disease among Japanese : a report of 28 cases. Int J Surg Pathol 16 : 391-398, 2008.
PubMed
12) Fujimoto S, Sakai T, Kawabata H, et al : Is TAFRO syndrome a subtype of idiopathic multicentric Castleman disease? Am J Hematol 94 : 975-983, 2019.
PubMed
13) van Rhee F, Voorhees P, Dispenzieri A, et al : International, evidence-based consensus treatment guidelines for idiopathic multicentric Castleman disease. Blood 132 : 2115-2124, 2018.
PubMed
14) Pria AD, Pinato D, Roe J, et al : Relapse of HHV8-positive multicentric Castleman disease following rituximab-based therapy in HIV-positive patients. Blood 129 : 2143-2147, 2017.
PubMed
15) Bower M, Powles T, Williams S, et al : Brief communication : rituximab in HIV-associated multicentric Castleman disease. Ann Intern Med 147 : 836-839, 2007.
PubMed
P.129 掲載の参考文献
1) 高井和江, 新國公司, 渋谷宏行, ほか : 発熱, 胸腹水, 肝脾腫を伴い, 骨髄に軽度の線維化を認める血小板減少症. 臨床血液 51 : 320-325, 2010.
 
2) 青木定夫 : TAFRO症候群の定義, 概念. キャッスルマン病, TAFRO症候群吉崎和幸, 川上純編, p144-149, フジメディカル出版, 2022.
 
3) Masaki Y, Arita K, Sakai T, et al : Castleman disease and TAFRO syndrome. Ann Hematol 101 : 485-490, 2022.
PubMed
4) Masaki Y, Kawabata H, Takai K, et al : 2019 updated diagnostic criteria and disease severity classification for TAFRO syndrome. Int J Hematol 111 : 155-158, 2020.
PubMed
5) Kawabata H, Kadowaki N, Nishikori M, et al : Clinical features and treatment of multicentric castleman's disease : a retrospective study of 21 Japanese patients at a single institute. J Clin Exp Hematop 53 : 69-77, 2013.
 
6) Iwaki N, Fajgenbaum DC, Nabel CS, et al : Clinicopathologic analysis of TAFRO syndrome demonstrates a distinct subtype of HHV-8-negative multicentric Castleman disease. Am J Hematol 91 : 220-226, 2016.
PubMed
7) Masaki Y, Kawabata H, Fujimoto S, et al : Epidemiological analysis of multicentric and unicentric Castleman disease and TAFRO syndrome in Japan. J Clin Exp Hematop 59 : 175-178, 2019.
PubMed
8) Kawabata H, Fujimoto S, Sakai T, et al : Patient's age and D-dimer levels predict the prognosis in patients with TAFRO syndrome. Int J Hematol 114 : 179-188, 2021.
 
9) Kiguchi T, Sato C, Takai K, et al : CT findings in 11 patients with TAFRO syndrome : a variant of multicentric Castleman's disease. Clin Radiol 27 : 905.e1-905.e5, 2017.
 
10) Masaki Y, Kawabata H, Takai K, et al : Proposed diagnostic criteria, disease severity classification and treatment strategy for TAFRO syndrome, 2015 version. Int J Hematol 103 : 686-692, 2016.
PubMed
11) Fujimoto S, Kawabata H, Sakai T, et al : Optimal treatments for TAFRO syndrome : a retrospective surveillance study in Japan. Int J Hematol 113 : 73-80, 2021.
PubMed
P.133 掲載の参考文献
1) Sykes DB, Schroyens W, O'Connell C : The TEMPI syndrome-a novel multisystem disease. N Engl J Med 365 : 475-477, 2011.
PubMed
2) Sykes DB, O'Connell C, Schroyens W : The TEMPI syndrome. Blood 135 : 1199-1203, 2020.
PubMed
3) Kawamura S, Tamaki M, Nakamura Y, et al : Successful Treatment of the TEMPI Syndrome with Pomalidomide Plus Dexamethasone Followed by Autologous Stem Cell Transplantation. Acta Haematol 145 : 553-559, 2022.
PubMed
4) Shizuku T, Matsui K, Yagi S, et al : The First Case of TEMPI Syndrome in Japan. Intern Med 59 : 1741-1744, 2020.
PubMed
5) Nunes Rosado FG, Lekovic D, Gagan J, et al : Comprehensive Next-Generation Sequencing Testing in a Patient with TEMPI Syndrome. Lab Med 54 : 546-549, 2023.
 
6) Rosado F, Lekovic D, Gagan J, et al : Advances in TEMPI Syndrome : Molecular Genetic Characterization of a Novel Disease. Modern Pathol 32 : 1372, 2019.
 
7) Sun C, Xu J, Zhang B, et al : Whole-genome sequencing suggests a role of MIF in the pathophysiology of TEMPI syndrome. Blood Adv 5 : 2563-2568, 2021.
 
8) Kubik T, Minoo P : TEMPI syndrome associated with IgM monoclonal gammopathy. Blood 139 : 1254, 2022.
PubMed
9) Xu J, Liu W, Fan F, et al : TEMPI Syndrome : Update on Clinical Features, Management, and Pathogenesis. Front Endocrinol (Lausanne) 13 : 886961, 2022.
PubMed
10) Strobl J, Sinz C, Heil PM, et al : Cutaneous ulceration as primary presentation of TEMPI syndrome. J Eur Acad Dermatol Venereol 35 : e891-e894, 2021.
PubMed
11) Kwok M, Korde N, Landgren O : Bortezomib to treat the TEMPI syndrome. N Engl J Med 366 : 1843-1845, 2012.
PubMed
12) Sykes DB, Schroyens W : Complete Responses in the TEMPI Syndrome after Treatment with Daratumumab. N Engl J Med 378 : 2240-2242, 2018.
PubMed
13) Kenderian SS, Rosado FG, Sykes DB, et al : Long-term complete clinical and hematological responses of the TEMPI syndrome after autologous stem cell transplantation. Leukemia 29 : 2414-2416, 2015.
PubMed
14) Diral E, Parma M, Renso R, et al : A fatal case of TEMPI syndrome, refractory to proteasome inhibitors and autologous stem cell transplantation. Leuk Res 97 : 106441, 2020.
PubMed
P.139 掲載の参考文献
1) Falk RH, Comenzo RL, Skinner M : The systemic amyloidoses. N Engl J Med 337 : 898-909, 1997.
PubMed
2) 島崎千尋 : 本邦におけるALアミロイドーシス-全国疫学調査からみた診断と治療の現状. 臨床血液 60 : 973-978, 2019.
 
3) Shimazaki C, Hata H, Iida S, et al : Nationwide survey of 741 patients with systemic amyloidlight chain amyloidosis in Japan. Intern Med 57 : 181-187, 2018.
 
4) アミロイドーシスに関する調査研究班 : 全身性ALアミロイドーシスの診断基準. [http://amyloidosis-research-committee.jp]
 
5) Shimazaki C, Matsui-Maegawa S, Kimoto-Matsumura Y, et al : The serum level of plasminalpha 2 plasmin inhibitor complex (PIC) is useful for differentiating cardiac light chain amyloidosis from transthyretin amyloidosis. Br J Haematol 202 : 1209-1212, 2023.
 
6) Palladini G, Dispenzieri A, Gertz MA, et al : New criteria for response to treatment in immunoglobulin light chain amyloidosis based on free light chain measurement and cardiac biomarkers : impact on survival outcomes. J Clin Oncol 30 : 4541-4549, 2012.
PubMed
7) Kaufman GP, Dispenzieri A, Gertz MA, et al : Kinetics of organ response and survival following normalization of the serum free light chain ratio in AL amyloidosis. Am J Hematol 90 : 181-186, 2015.
PubMed
8) Kumar S, Dispenzieri A, Lacy MQ, et al : Revised prognostic staging system for light chain amyloidosis incorporating cardiac biomarkers and serum free light chain measurements. J Clin Oncol 30 : 989-995, 2012.
PubMed
9) Palladini G, Hegenbart U, Milani P, et al : A staging system for renal outcome and early markers of renal response to chemotherapy in AL amyloidosis. Blood 124 : 2325-2332, 2014.
 
10) Kastritis E, Palladini G, Minnema MC, et al : Daratumumab-Based Treatment for Immunoglobulin Light-Chain Amyloidosis. N Engl J Med 385 : 46-58, 2021.
PubMed
11) 一般社団法人日本血液学会 (編) : AL アミロイドーシス. 造血器腫瘍診療ガイドライン 2023年版. p444-445, 金原出版, 2023.
 
12) Chakraborty R, Rosenbaum C, Kaur G, et al : First report of outcomes in patients with stage IIIb AL amyloidosis treated with Dara-VCD front-line therapy. Br J Haematol 201 : 913-916, 2023.
PubMed
13) Jaccard A, Moreau P, Leblond V, et al : High-dose melphalan versus melphalan plus dexamethasone for AL amyloidosis. N Engl J Med 357 : 1083-1093, 2007.
PubMed
14) D'Souza A, Dispenzieri A, Wirk B, et al : Improved Outcomes After Autologous Hematopoietic Cell Transplantation for Light Chain Amyloidosis : A Center for International Blood and Marrow Transplant Research Study. J Clin Oncol 33 : 3741-3749, 2015.
PubMed
15) Palladini G, Milani P, Foli A, et al : Oral melphalan and dexamethasone grants extended survival with minimal toxicity in AL amyloidosis : long-term results of a risk-adapted approach. Haematologica 99 : 743-750, 2014.
PubMed
P.143 掲載の参考文献
1) Okuda Y, Yamada T, Ueda M, et al : First Nationwide Survey of 199 Patients with Amyloid A Amyloidosis in Japan. Intern Med 57 : 3351-3355, 2018.
PubMed
2) Lane T, Pinney JH, Gilbertson JA, et al : Changing epidemiology of AA amyloidosis : clinical observations over 25 years at a single national referral centre. Amyloid 24 : 162-166, 2017.
 
3) Yamada T : Serum amyloid A (SAA) : a concise review of biology, assay methods and clinical usefulness. Clin Chem Lab Med 37 : 381-388, 1999.
 
4) Lachmann HJ, Goodman HJ, Gilbertson JA, et al : Natural history and outcome in systemic AA amyloidosis. N Engl J Med 356 : 2361-2371, 2007.
PubMed
5) Baba S, Masago SA, Takahashi T, et al : A novel allelic variant of serum amyloid A, SAA1 gamma : genomic evidence, evolution, frequency, and implication as a risk factor for reactive systemic AA-amyloidosis. Hum Mol Genet 4 : 1083-1087, 1995.
 
6) Booth DR, Booth SE, Gillmore JD, et al : SAA1 alleles as risk factors in reactive systemic AA amyloidosis. Amyloid 5 : 262-265, 1998.
PubMed
7) Yamada T, Okuda Y, Takasugi K, et al : An allele of serum amyloid A1 associated with amyloidosis in both Japanese and Caucasians. Amyloid 10 : 7-11, 2003.
PubMed
8) Okuda Y, Yamada T, Matsuura M, et al : Ageing : a risk factor for amyloid A amyloidosis in rheumatoid arthritis. Amyloid 18 : 108-111, 2011.
PubMed
9) Okuda Y, Takasugi K, Oyama T, et al : Amyloidosis in rheumatoid arthritis-clinical study of 124 histologically proven cases. Ryumachi 34 : 939-946, 1994.
PubMed
10) Gottenberg JE, Merle-Vincent F, Bentaberry F, et al : Anti-tumor necrosis factor alpha therapy in fifteen patients with AA amyloidosis secondary to inflammatory arthritides : a followup report of tolerability and efficacy. Arthritis Rheum 48 : 2019-2024, 2003.
PubMed
11) Fernandez-Nebro A, Olive A, Castro MC, et al : Long-term TNF-alpha blockade in patients with amyloid A amyloidosis complicating rheumatic diseases. Am J Med 123 : 454-461, 2010.
PubMed
12) Okuda Y, Ohnishi M, Matoba K, et al : Comparison of the clinical utility of tocilizumab and anti-TNF therapy in AA amyloidosis complicating rheumatic diseases. Mod Rheumatol 24 : 137-143, 2014.
PubMed
13) Okuda Y, Takasugi K : Successful use of a humanized anti-interleukin-6 receptor antibody, tocilizumab, to treat amyloid A amyloidosis complicating juvenile idiopathic arthritis. Arthritis Rheum 54 : 2997-3000, 2006.
PubMed
14) Kuroda T, Tanabe N, Sato H, et al : Outcome of patients with reactive amyloidosis associated with rheumatoid arthritis in dialysis treatment. Rheumatol Int 26 : 1147-1153, 2006.
PubMed
15) 奥田恭章 : 関節リウマチに伴うAAアミロイドーシス. 胃と腸 49 : 335-343, 2014.
 
P.148 掲載の参考文献
1) Koike H, Katsuno M : Transthyretin Amyloidosis : Update on the Clinical Spectrum, Pathogenesis, and Disease-Modifying Therapies. Neurol Ther 9 : 317-333, 2020.
PubMed
2) Koike H, Misu K, Ikeda S, et al : Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan : early- vs late-onset form. Arch Neurol 59 : 1771-1776, 2002.
PubMed
3) Koike H, Hashimoto R, Tomita M, et al : Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy : a practical analysis. Amyloid 18 : 53-62, 2011.
PubMed
4) Adams D, Koike H, Slama M, et al : Hereditary transthyretin amyloidosis : a model of medical progress for a fatal disease. Nat Rev Neurol 15 : 387-404, 2019.
 
5) Koike H, Tanaka F, Hashimoto R, et al : Natural history of transthyretin Val30Met familial amyloid polyneuropathy : analysis of late-onset cases from non-endemic areas. J Neurol Neurosurg Psychiatry 83 : 152-158, 2012.
 
6) Koike H, Misu K, Sugiura M, et al : Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology 63 : 129-138, 2004.
PubMed
7) Koike H, Ikeda S, Takahashi M, et al : Schwann cell and endothelial cell damage in transthyretin familial amyloid polyneuropathy. Neurology 87 : 2220-2229, 2016.
PubMed
8) Koike H, Nishi R, Ikeda S, et al : The morphology of amyloid fibrils and their impact on tissue damage in hereditary transthyretin amyloidosis : An ultrastructural study. J Neurol Sci 394 : 99-106, 2018.
PubMed
9) Koike H, Okumura T, Murohara T, et al : Multidisciplinary Approaches for Transthyretin Amyloidosis. Cardiol Ther 10 : 289-311, 2021.
PubMed
10) Koike H, Hashimoto R, Tomita M, et al : Impact of aging on the progression of neuropathy after liver transplantation in transthyretin Val30Met amyloidosis. Muscle Nerve 46 : 964-970, 2012.
PubMed
11) Coelho T, Maia LF, Martins da Silva A, et al : Tafamidis for transthyretin familial amyloid polyneuropathy : a randomized, controlled trial. Neurology 79 : 785-792, 2012.
PubMed
12) Berk JL, Suhr OB, Obici L, et al : Repurposing diflunisal for familial amyloid polyneuropathy : a randomized clinical trial. JAMA 310 : 2658-2667, 2013.
PubMed
13) Adams D, Gonzalez-Duarte A, O'Riordan WD, et al : Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. N Engl J Med 379 : 11-21, 2018.
PubMed
14) Benson MD, Waddington-Cruz M, Berk JL, et al : Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis. N Engl J Med 379 : 22-31, 2018.
PubMed
15) Adams D, Tournev IL, Taylor MS, et al : Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy : a randomized clinical trial. Amyloid 30 : 1-9, 2023.
PubMed
P.153 掲載の参考文献
1) Meretoja J : Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome. Ann Clin Res 1 : 314-324, 1969.
PubMed
2) Sipe JD, Benson MD, Buxbaum JN, et al : Amyloid fibril proteins and amyloidosis : chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines. Amyloid 23 : 209-213, 2016.
PubMed
3) Kiuru-Enari A, Haltia M : Hereditary gelsolin amyloidosis. Handb Clin Neurol 115 : 659-681, 2013.
PubMed
4) 砂田芳秀 : ゲルゾリン (フィンランド) 型家族性アミロイドポリニューロパチー : 臨床像とアミロイド形成機構. 医学のあゆみ 258 : 677-681, 2016.
Medical*Online
5) Mustonen T, Schmidt EK, Valori M, et al : Common origin of the gelsolin gene variant in 62 Finnish AGel amyloidosis families. Eur J Hum Genet 26 : 117-123, 2018.
PubMed
6) Maury CP, Alli K, Baumann M : Finnish hereditary amyloidosis. Amino acid sequence homology between the amyloid fibril protein and human plasma gelsoline. FEBS Lett 260 : 85-87, 1990.
PubMed
7) Levy E, Haltia M, Fernandez-Madrid I, et al : Mutation in gelsolin gene in Finnish hereditary amyloidosis. J Exp Med 172 : 1865-1867, 1990.
PubMed
8) Paunio T, Sunada Y, Kiuru S, et al : Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan. Hum Mutat 6 : 60-65, 1995.
PubMed
9) Taira M, Ishiura H, Mitsui J, et al : Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type. Neurogenetics 13 : 237-243, 2012.
PubMed
10) Solomon JP, Page LJ, Balch WE, et al : Gelsolin amyloidosis : genetics, biochemistry, pathology and possible strategies for therapeutic intervention. Crit Rev Biochem Mol Biol 47 : 282-296, 2012.
PubMed
11) Chen CD, Huff ME, Matteson J, et al : Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca (2+) stabilization. EMBO J 20 : 6277-6287, 2001.
PubMed
12) Page LJ, Suk JY, Huff ME, et al : Metalloendoprotease cleavage triggers gelsolin amyloidogenesis. EMBO J 24 : 4124-4132, 2005.
PubMed
13) Giorgino T, Mattioni D, Hassan A, et al : Nanobody interaction unveils structure, dynamics and proteotoxicity of the Finnish-type amyloidogenic gelsolin variant. Biochim Biophys Acta Mol Basis Dis 1865 : 648-660, 2019.
PubMed
P.158 掲載の参考文献
1) Tougaard BG, Pedersen KV, Krag SR, et al : A case report of hereditary apolipoprotein A-I amyloidosis associated with a novel APOA1 mutation and variable phenotype. Eur J Med Genet 59 : 474-477, 2016.
PubMed
2) Nichols WC, Gregg RE, Brewer HB Jr, et al : A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. Genomics 8 : 318-323, 1990.
PubMed
3) Lachmann HJ, Booth DR, Booth SE, et al : Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med 346 : 1786-1791, 2002.
PubMed
4) Mizuguchi C, Nakagawa M, Namba N, et al : Mechanisms of aggregation and fibril formation of the amyloidogenic N-terminal fragment of apolipoprotein A-I. J Biol Chem 294 : 13515-13524, 2019.
PubMed
5) Morgado I, Panahi A, Burwash AG, et al : Molecular Insights into Human Hereditary Apolipoprotein A-I Amyloidosis Caused by the Glu34Lys Mutation. Biochemistry 57 : 5738-5747, 2018.
PubMed
6) Eriksson M, Schonland S, Yumlu S, et al : Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens : identification of three novel mutations in the APOA1 gene. J Mol Diagn 11 : 257-262, 2009.
 
7) Horike K, Takeda A, Tsujita M, et al : Two novel APOA1 gene mutations in a Japanese renal transplant recipient with recurrent apolipoprotein A-I related amyloidosis. Nephrology (Carlton) 23 (Suppl 2) : 17-21, 2018.
 
8) Yoshinaga T, Katoh N, Yazaki M, et al : Giant Hepatomegaly with Spleno-testicular Enlargement in a Patient with Apolipoprotein A-I Amyloidosis : An Uncommon Type of Amyloidosis in Japan. Intern Med 60 : 575-581, 2021.
 
9) Sagawa T, Kogiso T, Ito T, et al : Hereditary Apolipoprotein A-1 Amyloidosis With Glu34Lys Mutation Treated by Liver Transplantation : A Case Report. Transplant Proc 53 : 1327-1332, 2021.
PubMed
10) Andeen NK, Lam DY, de Boer IH, et al : Renal ApoA-1 amyloidosis with Glu34Lys mutation and intra-amyloid lipid accumulation. J Am Soc Nephrol 25 : 2703-2705, 2014.
PubMed
11) Rowczenio D, Dogan A, Theis JD, et al : Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I. Am J Pathol 179 : 1978-1987, 2011.
PubMed
12) Abe R, Katoh N, Takahashi Y, et al : Distribution of amyloidosis subtypes based on tissue biopsy site-Consecutive analysis of 729 patients at a single amyloidosis center in Japan. Pathol Int 71 : 70-79, 2021.
 
13) Matsuda M, Katoh N, Ikeda S : Clinical manifestations at diagnosis in Japanese patients with systemic AL amyloidosis : a retrospective study of 202 cases with a special attention to uncommon symptoms. Intern Med 53 : 403-412, 2014.
PubMed
14) Gillmore JD, Stangou AJ, Lachmann HJ, et al : Organ transplantation in hereditary apolipoprotein AI amyloidosis. Am J Transplant 6 : 2342-2347, 2006.
PubMed
15) Cohen OC, Blakeney IJ, Law S, et al : The experience of hereditary apolipoprotein A-I amyloidosis at the UK National Amyloidosis Centre. Amyloid 29 : 237-244, 2022.
PubMed
P.163 掲載の参考文献
1) Buxbaum JN, Dispenzieri A, Eisenberg DS, et al : Amyloid nomenclature 2022 : update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee. Amyloid 29 : 213-219, 2022.
PubMed
2) Gejyo F, Yamada T, Odani S, et al : A new form of amyloid protein associated with chronic hemodialysis was identified as beta 2-microglobulin. Biochem Biophys Res Commun 129 : 701-706, 1985.
PubMed
3) Valleix S, Gillmore JD, Bridoux F, et al : Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. N Engl J Med 366 : 2276-2283, 2012.
 
4) Mizuno H, Hoshino J, So M, et al : Dialysis-related amyloidosis associated with a novel β2-microglobulin variant. Amyloid 28 : 42-49, 2021.
 
5) Prokaeva T, Joshi T, Klimtchuk ES, et al : A novel substitution of proline (P32L) destabilises β2-microglobulin inducing hereditary systemic amyloidosis. Amyloid 29 : 255-262, 2022.
 
6) Hoshino J, Kawada M, Imafuku A, et al : A clinical staging score to measure the severity of dialysis-related amyloidosis. Clin Exp Nephrol 21 : 300-306, 2017.
PubMed
7) 下条文武, 高橋直生 : 透析アミロイドーシス. 日本内科学会雑誌 89 : 1372-1378, 2000.
 
8) Nakajima K, Yamaguchi K, Noji M, et al : Macromolecular crowding and supersaturation protect hemodialysis patients from the onset of dialysis-related amyloidosis. Nat Commun 13 : 5689, 2022.
PubMed
9) Wilkinson M, Gallardo RU, Martinez RM, et al : Disease-relevant β2-microglobulin variants share a common amyloid fold. Nat Commun 14 : 1190, 2023.
 
P.167 掲載の参考文献
1) Buxbaum JN, Dispenzieri A, Eisenberg DS, et al : Amyloid nomenclature 2022 : update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomenclature Committee. Amyloid 29 : 213-219, 2022.
PubMed
2) Meretoja J : Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome. Ann Clin Res 1 : 314-324, 1969.
PubMed
3) Yamanaka S, Miyazaki Y, Kasai K, et al : Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation : a report of two cases. Clin Kidney J 6 : 189-193, 2013.
PubMed
4) Benson MD : Ostertag revisited : the inherited systemic amyloidoses without neuropathy. Amyloid 12 : 75-87, 2005.
PubMed
5) Yoshinaga T, Katoh N, Yazaki M, et al : Giant Hepatomegaly with Spleno-testicular Enlargement in a Patient with Apolipoprotein A-I Amyloidosis : An Uncommon Type of Amyloidosis in Japan. Intern Med 60 : 575-581, 2021.
 
6) Lachmann HJ, Booth DR, Booth SE, et al : Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med 346 : 1786-1791, 2002.
PubMed
7) Yazaki M, Yoshinaga T, Sekijima Y, et al : Hereditary Fibrinogen Aα-Chain Amyloidosis in Asia : Clinical and Molecular Characteristics. Int J Mol Sci 19 : 320, 2018.
 
8) Yazaki M, Yoshinaga T, Sekijima Y, et al : The first pure form of Ostertag-type amyloidosis in Japan : a sporadic case of hereditary fibrinogen Aα-chain amyloidosis associated with a novel frameshift variant. Amyloid 22 : 142-144, 2015.
 
9) Benson MD, Liepnieks JJ, Yazaki M, et al : A new human hereditary amyloidosis : the result of a stop-codon mutation in the apolipoprotein AII gene. Genomics 72 : 272-277, 2001.
PubMed
10) Yazaki M, Liepnieks JJ, Yamashita T, et al : Renal amyloidosis caused by a novel stop-codon mutation in the apolipoprotein A-II gene. Kidney Int 60 : 1658-1665, 2001.
PubMed
11) Yazaki M, Liepnieks JJ, Barats MS, et al : Hereditary systemic amyloidosis associated with a new apolipoprotein AII stop codon mutation Stop78Arg. Kidney Int 64 : 11-16, 2003.
PubMed
12) Tasaki M, Nomura T, Uchiyama K, et al : Fibrinogen A α-chain amyloidosis associated with a rare frameshift pathogenic variant p.Arg547GlyfsTer21. Amyloid 29 : 276-277, 2022.
 
13) Horike K, Takeda A, Tsujita M, et al : Two novel APOA1 gene mutations in a Japanese renal transplant recipient with recurrent apolipoprotein A-I related amyloidosis. Nephrology (Carlton) 23 (Suppl 2) : 17-21, 2018.
 
14) Naiki H, Sekijima Y, Ueda M, et al : Human amyloidosis, still intractable but becoming curable : The essential role of pathological diagnosis in the selection of type-specific therapeutics. Pathol Int 70 : 191-198, 2020.
PubMed
15) Magy N, Liepnieks JJ, Yazaki M, et al : Renal transplantation for apolipoprotein AII amyloidosis. Amyloid 10 : 224-228, 2003.
PubMed
P.173 掲載の参考文献
1) McDermott MF, Aksentijevich I, Galon J, et al : Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97 : 133-144, 1999.
PubMed
2) Okuda Y, Yamada T, Ueda M, et al : First Nationwide Survey of 199 Patients with Amyloid A Amyloidosis in Japan. Intern Med 57 : 3351-3355, 2018.
PubMed
3) Migita K, Izumi Y, Jiuchi Y, et al : Familial Mediterranean fever is no longer a rare disease in Japan. Arthritis Res Ther 18 : 175, 2016.
PubMed
4) Migita K, Uehara R, Nakamura Y, et al : Familial Mediterranean fever in Japan. Medicine (Baltimore) 91 : 337-343, 2012.
PubMed
5) Prieur AM, Griscelli C, Lampert F, et al : A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatol Suppl 66 : 57-68, 1987.
PubMed
6) Obici L, Merlini G : Amyloidosis in autoinflammatory syndromes. Autoimmun Rev 12 : 14-17, 2012.
PubMed
7) Hoffman HM, Wanderer AA, Broide DH : Familial cold autoinflammatory syndrome : phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 108 : 615-620, 2001.
PubMed
8) Beck DB, Ferrada MA, Sikora KA, et al : Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med 383 : 2628-2638, 2020.
PubMed
9) Matsumoto H, Asano T, Tsuchida N, et al : Behcet's disease with a somatic UBA1 variant : Expanding spectrum of autoinflammatory phenotypes of VEXAS syndrome. Clin Immunol 238 : 108996, 2022.
PubMed
10) Euvrard R, Fournier T, Georgescu D, et al : VEXAS syndrome-related AA amyloidosis : a case report. Rheumatology (Oxford) 61 : e15-e16, 2021.
PubMed
11) Lachmann HJ, Goodman HJ, Gilbertson JA, et al : Natural history and outcome in systemic AA amyloidosis. N Engl J Med 356 : 2361-2371, 2007.
PubMed
12) El Hasbani G, Jawad A, Uthman I : Update on the management of colchicine resistant Familial Mediterranean Fever (FMF). Orphanet J Rare Dis 14 : 224, 2019.
PubMed
13) Migita K, Agematsu K, Yazaki M, et al : Familial Mediterranean fever : genotype-phenotype correlations in Japanese patients. Medicine (Baltimore) 93 : 158-164, 2014.
PubMed
14) Yoshida S, Sumichika Y, Saito K, et al : Effectiveness of Colchicine or Canakinumab in Japanese Patients with Familial Mediterranean Fever : A Single-Center Study. J Clin Med 12 : 6272, 2023.
 
15) Bulua AC, Mogul DB, Aksentijevich I, et al : Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome : a prospective, open-label, dose-escalation study. Arthritis Rheum 64 : 908-913, 2012.
PubMed
16) Kone-Paut I, Piram M : Targeting interleukin-1β in CAPS (cryopyrin-associated periodic) syndromes : what did we learn? Autoimmun Rev 12 : 77-80, 2012.
 
17) De Benedetti F, Gattorno M, Anton J, et al : Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes. N Engl J Med 378 : 1908-1919, 2018.
PubMed
18) Moriguchi M, Terai C, Koseki Y, et al : Influence of genotypes at SAA1 and SAA2 loci on the development and the length of latent period of secondary AA-amyloidosis in patients with rheumatoid arthritis. Hum Genet 105 : 360-366, 1999.
PubMed
19) Medlej-Hashim M, Delague V, Chouery E, et al : Amyloidosis in familial Mediterranean fever patients : correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. BMC Med Genet 5 : 4, 2004.
PubMed
20) Okuda Y, Yamada T, Matsuura M, et al : Ageing : a risk factor for amyloid A amyloidosis in rheumatoid arthritis. Amyloid 18 : 108-111, 2011.
PubMed
P.178 掲載の参考文献
1) Sekijima Y, Yazaki M, Ueda M, et al : First nationwide survey on systemic wild-type ATTR amyloidosis in Japan. Amyloid 25 : 8-10, 2018.
PubMed
2) 関島良樹 : 野生型ATTRアミロイドーシスによる手根管症候群. Annual Review神経 2023 : (鈴木則宏, 荒木信夫, 宇川義一, ほか編), P245-251, 中外医学社, 2023.
 
3) Cornwell GG 3rd, Murdoch WL, Kyle RA, et al : Frequency and distribution of senile cardiovascular amyloid. A clinicopathologic correlation. Am J Med 75 : 618-623, 1983.
PubMed
4) Tanskanen M, Kiuru-Enari S, Tienari P, et al : Senile systemic amyloidosis, cerebral amyloid angiopathy, and dementia in a very old Finnish population. Amyloid 13 : 164-169, 2006.
 
5) Ueda M, Horibata Y, Shono M, et al : Clinicopathological features of senile systemic amyloidosis : an ante- and post-mortem study. Mod Pathol 24 : 1533-1544, 2011.
PubMed
6) Gonzalez-Lopez E, Gallego-Delgado M, Guzzo-Merello G, et al : Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction. Eur Heart J 36 : 2585-2594, 2015.
PubMed
7) 坂田泰彦, ほか : 心不全の疫学 : 心不全パンデミック. 日本内科学会雑誌 109 : 186-190, 2020.
 
8) Sekijima Y, Uchiyama S, Tojo K, et al : High prevalence of wild-type transthyretin deposition in patients with idiopathic carpal tunnel syndrome : a common cause of carpal tunnel syndrome in the elderly. Hum Pathol 42 : 1785-1791, 2011.
PubMed
9) Nakagawa M, Sekijima Y, Yazaki M, et al : Carpal tunnel syndrome : a common initial symptom of systemic wild-type ATTR (ATTRwt) amyloidosis. Amyloid 23 : 58-63, 2016.
PubMed
10) Phull P, Sanchorawala V, Connors LH, et al : Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). Amyloid 25 : 62-67, 2018.
PubMed
11) Connors LH, Sam F, Skinner M, et al : Heart Failure Resulting From Age-Related Cardiac Amyloid Disease Associated With Wild-Type Transthyretin : A Prospective, Observational Cohort Study. Circulation 133 : 282-290, 2016.
PubMed
12) Grogan M, Scott CG, Kyle RA, et al : Natural History of Wild-Type Transthyretin Cardiac Amyloidosis and Risk Stratification Using a Novel Staging System. J Am Coll Cardiol 68 : 1014-1020, 2016.
PubMed
13) Maurer MS, Schwartz JH, Gundapaneni B, et al : Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. N Engl J Med 379 : 1007-1016, 2018.
PubMed
14) Maurer MS, Kale P, Fontana M, et al : Patisiran Treatment in Patients with Transthyretin Cardiac Amyloidosis. N Engl J Med 389 : 1553-1565, 2023.
PubMed
15) Garcia-Pavia P, Aus dem Siepen F, Donal E, et al : Phase 1 Trial of Antibody NI006 for Depletion of Cardiac Transthyretin Amyloid. N Engl J Med 389 : 239-250, 2023.
PubMed
P.185 掲載の参考文献
1) Hoshino J, Yamagata K, Nishi S, et al : Carpal tunnel surgery as proxy for dialysis-related amyloidosis : results from the Japanese society for dialysis therapy. Am J Nephrol 39 : 449-458, 2014.
PubMed
2) Naiki H, Okoshi T, Ozawa D, et al : Molecular pathogenesis of human amyloidosis : Lessons from β2-microglobulin-related amyloidosis. Pathol Int 66 : 193-201, 2016.
 
3) Yamamoto S, Kazama JJ, Narita I, et al : Recent progress in understanding dialysis-related amyloidosis. Bone 45 (Suppl 1) : S39-S42, 2009.
 
4) Nakajima K, Yamaguchi K, Noji M, et al : Macromolecular crowding and supersaturation protect hemodialysis patients from the onset of dialysis-related amyloidosis. Nat Commun 13 : 5689, 2022.
PubMed
5) Nishi S, Hoshino J, Yamamoto S, et al : Multicentre cross-sectional study for bone-articular lesions associated with dialysis related amyloidosis in Japan. Nephrology (Carlton) 23 : 640-645, 2018.
PubMed
6) Hoshino J, Yamagata K, Nishi S, et al : Significance of the decreased risk of dialysis-related amyloidosis now proven by results from Japanese nationwide surveys in 1998 and 2010. Nephrol Dial Transplant 31 : 595-602, 2016.
PubMed
7) Kanda E, Muenz D, Bieber B, et al : Beta-2 microglobulin and all-cause mortality in the era of high-flux hemodialysis : results from the Dialysis Outcomes and Practice Patterns Study. Clin Kidney J 14 : 1436-1442, 2021.
PubMed
8) アミロイドーシス診療ガイドライン 2010 (アミロイドーシスに関する調査研究班編), P27-31, 2010.
 
9) Hoshino J, Kawada M, Imafuku A, et al : A clinical staging score to measure the severity of dialysis-related amyloidosis. Clin Exp Nephrol 21 : 300-306, 2017.
PubMed
10) 川西秀樹, 峰島三千男, 友雅司, ほか : 血液浄化器 (中空糸型) の機能分類 2013. 日本透析会誌 46 : 501-506, 2013.
 
11) Yoshida S, Yamamoto S, Miyauchi D, et al : Removal of α1-Microglobulin Using Post-Dilution Online Hemodiafiltration with Polymethylmethacrylate Membrane : An Open-Label, Single-Arm Study. Blood Purif 53 : 123-129, 2024.
 
P.188 掲載の参考文献
1) Utz JP, Swensen SJ, Gertz MA : Pulmonary amyloidosis. The Mayo Clinic experience from 1980 to 1993. Ann Intern Med 124 : 407-413, 1996.
 
2) Howard ME, Ireton J, Daniels F, et al : Pulmonary presentations of amyloidosis. Respirology 6 : 61-64, 2001.
PubMed
3) Khoor A, Colby TV : Amyloidosis of the Lung. Arch Pathol Lab Med 141 : 247-254, 2017.
PubMed
4) Gimenez A, Franquet T, Prats R, et al : Unusual primary lung tumors : a radiologic-pathologic overview. Radiographics 22 : 601-619, 2002.
PubMed
5) Milani P, Basset M, Russo F, et al : The lung in amyloidosis. Eur Respir Rev 26 : 170046, 2017.
PubMed
6) Grogg KL, Aubry MC, Vrana JA, et al : Nodular pulmonary amyloidosis is characterized by localized immunoglobulin deposition and is frequently associated with an indolent B-cell lymphoproliferative disorder. Am J Surg Pathol 37 : 406-412, 2013.
PubMed
7) Urban BA, Fishman EK, Goldman SM, et al : CT evaluation of amyloidosis : spectrum of disease. Radiographics 13 : 1295-1308, 1993.
PubMed
8) Aylwin AC, Gishen P, Copley SJ : Imaging appearance of thoracic amyloidosis. J Thorac Imaging 20 : 41-46, 2005.
PubMed
9) Vieira IG, Marchiori E, Zanetti G, et al : Pulmonary amyloidosis with calcified nodules and masses-a six-year computed tomography follow-up : a case report. Cases J 2 : 6540, 2009.
PubMed
10) Lantuejoul S, Moulai N, Quetant S, et al : Unusual cystic presentation of pulmonary nodular amyloidosis associated with MALT-type lymphoma. Eur Respir J 30 : 589-592, 2007.
PubMed
11) Chew KM, Clarke MJ, Dubey N, et al : Nodular pulmonary amyloidosis with unusual, widespread lung cysts. Singapore Med J 54 : e97-e99, 2013.
PubMed
12) Seaman DM, Meyer CA, Gilman MD, et al : Diffuse cystic lung disease at high-resolution CT. AJR Am J Roentgenol 196 : 1305-1311, 2011.
PubMed
13) Kinoshita Y, Ikeda T, Miyamura T, et al : Nodular Pulmonary Amyloidosis Associated with Sjogren's Syndrome. Intern Med 61 : 877-881, 2022.
PubMed
14) Flament T, Bigot A, Chaigne B, et al : Pulmonary manifestations of Sjogren's syndrome. Eur Respir Rev 25 : 110-123, 2016.
PubMed
15) Rajagopala S, Singh N, Gupta K, et al : Pulmonary amyloidosis in Sjogren's syndrome : a case report and systematic review of the literature. Respirology 15 : 860-866, 2010.
PubMed
P.194 掲載の参考文献
1) Falk RH : Diagnosis and management of the cardiac amyloidoses. Circulation 112 : 2047-2060, 2005.
PubMed
2) Falk RH : Cardiac amyloidosis : a treatable disease, often overlooked. Circulation 124 : 1079-1085, 2011.
PubMed
3) Rahman JE, Helou EF, Gelzer-Bell R, et al : Noninvasive diagnosis of biopsy-proven cardiac amyloidosis. J Am Coll Cardiol 43 : 410-415, 2004.
PubMed
4) Ruberg FL, Berk JL : Transthyretin (TTR) cardiac amyloidosis. Circulation 126 : 1286-1300, 2012.
PubMed
5) Falk RH, Comenzo RL, Skinner M : The systemic amyloidoses. N Engl J Med 337 : 898-909, 1997.
PubMed
6) Falk RH, Plehn JF, Deering T, et al : Sensitivity and specificity of the echocardiographic features of cardiac amyloidosis. Am J Cardiol 59 : 418-422, 1987.
PubMed
7) Feng D, Syed IS, Martinez M, et al : Intracardiac thrombosis and anticoagulation therapy in cardiac amyloidosis. Circulation 119 : 2490-2497, 2009.
PubMed
8) Castano A, Narotsky DL, Hamid N, et al : Unveiling transthyretin cardiac amyloidosis and its predictors among elderly patients with severe aortic stenosis undergoing transcatheter aortic valve replacement. Eur Heart J 38 : 2879-2887, 2017.
PubMed
9) Klein AL, Hatle LK, Burstow DJ, et al : Doppler characterization of left ventricular diastolic function in cardiac amyloidosis. J Am Coll Cardiol 13 : 1017-1026, 1989.
PubMed
10) Klein AL, Hatle LK, Taliercio CP, et al : Prognostic significance of Doppler measures of diastolic function in cardiac amyloidosis. A Doppler echocardiography study. Circulation 83 : 808-816, 1991.
PubMed
11) Koyama J, Ray-Sequin PA, Falk RH : Prognostic significance of ultrasound myocardial tissue characterization in patients with cardiac amyloidosis. Circulation 106 : 556-561, 2002.
PubMed
12) Koyama J, Ray-Sequin PA, Davidoff R, et al : Usefulness of pulsed tissue Doppler imaging for evaluating systolic and diastolic left ventricular function in patients with AL (primary) amyloidosis. Am J Cardiol 89 : 1067-1071, 2002.
PubMed
13) Koyama J, Ray-Sequin PA, Falk RH : Longitudinal myocardial function assessed by tissue velocity, strain, and strain rate tissue Doppler echocardiography in patients with AL (primary) cardiac amyloidosis. Circulation 107 : 2446-2452, 2003.
PubMed
14) Koyama J, Falk RH : Prognostic significance of strain Doppler imaging in light-chain amyloidosis. JACC Cardiovasc Imaging 3 : 333-342, 2010.
PubMed
15) Bellavia D, Pellikka PA, Al-Zahrani GB, et al : Independent predictors of survival in primary systemic (Al) amyloidosis, including cardiac biomarkers and left ventricular strain imaging : an observational cohort study. J Am Soc Echocardiogr 23 : 643-652, 2010.
PubMed
16) Kastritis E, Palladini G, Minnema MC, et al : Daratumumab-based treatment for immunoglobulin light-chain amyloidosis. N Engl J Med 385 : 46-58, 2021.
PubMed
17) Adams D, Gonzalez-Duarte A, O'Riordan WD, et al : Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis. N Engl J Med 379 : 11-21, 2018.
PubMed
18) Adams D, Tournev IL, Taylor MS, et al : Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy : a randomized clinical trial. Amyoid 30 : 1-9, 2023.
 
19) Kumar S, Dispenzieri A, Lacy MQ, et al : Revised prognostic staging system for light chain amyloidosis incorporating cardiac biomarkers and serum free light chain measurements. J Clin Oncol 30 : 989-995, 2012.
PubMed
P.199 掲載の参考文献
1) Yamada T, Hattori H, Miura A, et al : Prevalence of Alzheimer's disease, vascular dementia and dementia with Lewy bodies in a Japanese population. Psychiatry Clin Neurosci 55 : 21-25, 2001.
 
2) 二宮利治 : 日本における認知症の高齢者人口の将来推計に関する研究. 厚生労働科学特別研究事業平成26年度総括・分担研究報告書, 2015.
 
3) Scheltens P, De Strooper B, Kivipelto M, et al : Alzheimer's disease. Lancet 397 : 1577-1590, 2021.
PubMed
4) Hardy J, Allsop D : Amyloid deposition as the central event in the aetiology of Alzheimer's disease. Trends Pharmacol Sci 12 : 383-388, 1991.
PubMed
5) Sperling RA, Aisen PS, Beckett LA, et al : Toward defining the preclinical stages of Alzheimer's disease : recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 7 : 280-292, 2011.
PubMed
6) Ono K, Watanabe-Nakayama T, Aggregation and structure of amyloid β-protein. Neurochem Int 151 : 105208, 2021.
 
7) Hirono N, Mori E, Tanimukai S, et al : Distinctive neurobehavioral features among neurodegenerative dementias. J Neuropsychiatry Clin Neurosci 11 : 498-503, 1999.
PubMed
8) Albert MS, DeKosky ST, Dickson D, et al : The diagnosis of mild cognitive impairment due to Alzheimer's disease : recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 7 : 270-279, 2011.
PubMed
9) McKhann GM, Knopman DS, Chertkow H, et al : The diagnosis of dementia due to Alzheimer's disease : recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 7 : 263-269, 2011.
PubMed
10) van Dyck CH, Swanson CJ, Aisen P, et al : Lecanemab in Early Alzheimer's Disease. N Engl J Med 388 : 9-21, 2023.
PubMed
11) Matsui Y, Tanizaki Y, Arima H, et al : Incidence and survival of dementia in a general population of Japanese elderly : the Hisayama study. J Neurol Neurosurg Psychiatry 80 : 366-370, 2009.
 
12) Hirohata M, Yoshita M, Ishida C, et al : Clinical features of non-hypertensive lobar intracerebral hemorrhage related to cerebral amyloid angiopathy. Eur J Neurol 17 : 823-829, 2010.
PubMed
13) Revesz T, Ghiso J, Lashley T, et al : Cerebral amyloid angiopathies : a pathologic, biochemical, and genetic view. J Neuropathol Exp Neurol 62 : 885-898, 2003.
 
14) Chung KK, Anderson NE, Hutchinson D, et al : Cerebral amyloid angiopathy related inflammation : three case reports and a review. J Neurol Neurosurg Psychiatry 82 : 20-26, 2011.
 
15) Biffi A, Greenberg SM : Cerebral amyloid angiopathy : a systematic review. J Clin Neurol 7 : 1-9, 2011.
PubMed
P.203 掲載の参考文献
1) アミロイドーシス診療ガイドライン 2010 (厚生労働科学研究費補助金難治性疾患克服研究事業アミロイドーシスに関する調査研究班編), 2010.
 
2) 柳原誠 : 蛋白・アミノ酸代謝異常 (アミロイドーシス, クリオグロブリン血症, 異蛋白血症, 若年性ヒアリン線維腫症/皮膚粘膜ヒアリノーシス). 最新皮膚科学大系 10 内分泌・代謝異常症脂肪組織疾患形成異常症異物沈着症 (玉置邦彦総編集), p32, 中山書店, 2003.
 
3) Ono K, Fujimoto E, Fujimoto N, et al : In vitro amyloidogenic peptides of galectin-7 : possible mechanism of amyloidogenesis of primary localized cutaneous amyloidosis. J Biol Chem 289 : 29195-29207, 2014.
PubMed
4) Llamas-Molina JM, Velasco-Amador JP, De la Torre-Gomar FJ, et al : Localized Cutaneous Nodular Amyloidosis : A Specific Cutaneous Manifestation of Sjogren's Syndrome. Int J Mol Sci 24 : 7378, 2023.
 
5) 末木博彦 : アミロイドーシス診療のアルゴリズム. 皮膚科の臨床 55 : 167-175, 2013.
 
6) 心アミロイドーシス診療ガイドライン 2020年版 (日本循環器学会ほか編), p40-41, 2020.
 
7) 小原宏哉 : アミロイドーシス. 日本皮膚科学会雑誌 131 : 2779-2789, 2021.
 
8) 柳原誠, 花川博義, 梅原康次 : アミロイドーシスを見極める. MB Derma 320 : 100-108, 2022.
Medical*Online
9) Weidner T, Illing T, Elsner P : Primary Localized Cutaneous Amyloidosis : A Systematic Treatment Review. Am J Clin Dermatol 18 : 629-642, 2017.
PubMed
P.206 掲載の参考文献
1) Ramos-Casals M, Stone JH, Cid MC, et al : The cryoglobulinaemias. Lancet 379 : 348-360, 2012.
PubMed
2) Ferri C, Greco F, Longombardo G, et al : Association between hepatitis C virus and mixed cryoglobulinemia [see comment]. Clin Exp Rheumatol 9 : 621-624, 1991.
PubMed
3) Dammacco F, Sansonno D : Therapy for hepatitis C virus-related cryoglobulinemic vasculitis. N Engl J Med 369 : 1035-1045, 2013.
PubMed
4) Muchtar E, Magen H, Gertz MA : How I treat cryoglobulinemia. Blood 129 : 289-298, 2017.
 
5) Trejo O, Ramos-Casals M, Lopez-Guillermo A, et al : Hematologic malignancies in patients with cryoglobulinemia : association with autoimmune and chronic viral diseases. Semin Arthritis Rheum 33 : 19-28, 2003.
 
6) Sugihara A, Ureshino H, Yamasaki M, et al : Type II Cryoglobulinemic Membranoproliferative Glomerulonephritis Caused by Mucosa-associated Lymphoid Tissue Lymphoma. Intern Med 62 : 1983-1988, 2023.
PubMed
7) Rullier P, Le Quellec A, Cognot C : Cryoglobulins not HCV-related and solid tumors : Retrospective analysis from a series of 493 patients. Eur J Intern Med 20 : e158, 2009.
 
8) Trejo O, Ramos-Casals M, Garcia-Carrasco M, et al : Cryoglobulinemia : study of etiologic factors and clinical and immunologic features in 443 patients from a single center. Medicine (Baltimore) 80 : 252-262, 2001.
PubMed
9) Saadoun D, Sellam J, Ghillani-Dalbin P, et al : Increased risks of lymphoma and death among patients with non-hepatitis C virus-related mixed cryoglobulinemia. Arch Intern Med 166 : 2101-2108, 2006.
PubMed
10) Silva F, Pinto C, Barbosa A, et al : New insights in cryoglobulinemic vasculitis. J Autoimmun 105 : 102313, 2019.
 
11) Adinolfi LE, Utili R, Attanasio V, et al : Epidemiology, clinical spectrum and prognostic value of mixed cryoglobulinaemia in hepatitis C virus patients : A prospective study. Ital J Gastroenterol 28 : 1-9, 1996.
PubMed
12) Roccatello D, Fornasieri A, Giachino O, et al : Multicenter study on hepatitis C virus-related cryoglobulinemic glomerulonephritis. Am J Kidney Dis 49 : 69-82, 2007.
PubMed
13) Quartuccio L, Bortoluzzi A, Scire CA, et al : Management of mixed cryoglobulinemia with rituximab : evidence and consensus-based recommendations from the Italian Study Group of Cryoglobulinemia (GISC). Clin Rheumatol 42 : 359-370, 2023.
 
14) Mazzaro C, Dal Maso L, Mauro E, et al : Hepatitis C virus- related cryoglobulinemic vasculitis : A review of the role of the new direct antiviral agents (DAAs) therapy. Autoimmun Rev 19 : 102589, 2020.
 
P.209 掲載の参考文献
1) Waldenstrom J : Kliniska metoder for pavisanda av hyperproteinami arch deras praktiska varde for diagnostiken. Nord Med 20 : 2288-2295, 1943.
 
2) Alexander EL, Provost TT : Cutaneous manifestations of primary Sjogren's syndrome : a reflection of vasculitis and association with anti-Ro (SSA) antibodies. J Invest Dermatol 80 : 386-391, 1983.
PubMed
3) Ferreiro JE, Pasarin G, Quesada R, et al : Benign hypergammaglobulinemic purpura of Waldenstrom associated with Sjogren's syndrome. Case report and review of immunologic aspects. Am J Med 81 : 734-740, 1986.
PubMed
4) Habib GS, Nashashibi M : Hypergammaglobulinemic purpura in two sisters with Sjogren's syndrome responding to colchicine treatment. Clin Rheumatol 23 : 170-171, 2004.
PubMed
5) Hagio Y, Kurokawa M, Eguchi K, et al : Hypergammaglobulinemic purpura misdiagnosed as IgA vasculitis in a girl with primary Sjogren syndrome. Int J Rheum Dis 26 : 2091-2092, 2023.
 
6) Larson O, Leonhardt T : Systemic lupus erythematosus following hypergammaglobulinaemic purpura. Acta Med Scand 165 : 361-401, 1959.
 
7) Jolly EC, Hunt BJ, Ellis S, et al : "Benign" hypergammaglobulinemic purpura is not benign in pregnancy. Clin Rheumatol 28 (Suppl 1) : S11-S15, 2009.
PubMed
8) Malik R, Goyal A, Ganju V, et al : Hypergammaglobulinemic Purpura of Waldenstrom (HGPW) in Pregnancy : A Rare Case Report. J Obstet Gynaecol India 69 : 24-27, 2019.
PubMed
9) Tan E, Ng SK, Tan SH, et al : Hypergammaglonulinaemic purpura presenting as reticulate purpura. Clin Exp Dermatol 24 : 469-472, 1999.
PubMed
10) Theisen E, Lee DE, Pei S, et al : Hypergammaglobulinemic purpura of Waldenstrom in children. Pediatr Dermatol 37 : 467-475, 2020.
PubMed
11) Hewitt P, Davies S, Cohen H, et al : Therapy of Waldenstrom's benign hypergammaglobulinaemia by regular plasmapheresis. Acta Haematol 71 : 345-349, 1984.
 
12) Senecal JL, Chartier S, Rothfield N : Hypergammaglobulinemic purpura in systemic autoimmune rheumatic diseases : predictive value of anti-Ro (SSA) and anti-La (SSB) antibodies and treatment with indomethacin and hydroxychloroquine. J Rheumatol 22 : 868-875, 1995.
PubMed
13) Scheinberg M, Hamerschlak N, Kutner JM, et al : Rituximab in refractory autoimmune diseases : Brazilian experience with 29 patients (2002-2004). Clin Exp Rheumatol 24 : 65-69, 2006.
PubMed
P.214 掲載の参考文献
1) Dispenzieri A, Gertz MA, Therneau TM, et al : Retrospective cohort study of 148 patients with polyclonal gammopathy. Mayo Clin Proc 76 : 476-487, 2001.
PubMed
2) Buadi F, Hsing AW, Katzmann JA, et al : High prevalence of polyclonal hypergammaglobulinemia in adult males in Ghana, Africa. Am J Hematol 86 : 554-558, 2011.
PubMed
3) Beuvon C, Martin M, Baillou C, et al : Etiologies of Polyclonal Hypergammaglobulinemia : A scoping review. Eur J Intern Med 90 : 119-121, 2021.
PubMed
4) Suda T, Katano H, Delsol G, et al : HHV-8 infection status of AIDS-unrelated and AIDS-associated multicentric Castleman's disease. Pathol Int 51 : 671-679, 2001.
PubMed
5) Masaki Y, Arita K, Sakai T, et al : Castleman disease and TAFRO syndrome. Ann Hematol 101 : 485-490, 2022.
PubMed
6) Fajgenbaum DC, Uldrick TS, Bagg A, et al : International, evidence-based consensus diagnostic criteria for HHV-8-negative/idiopathic multicentric Castleman disease. Blood 129 : 1646-1657, 2017.
PubMed
7) 森茂郎, ほか : 著しい多クローン性高免疫グロブリン血症と全身リンパ節の高度の形質細胞増生を呈する症候群-形質細胞型Castlemanリンパ腫との異動. 日本網内系学会会誌 20 (Suppl) : 85-94, 1980.
 
8) Lin S, Sun Q, Mao W, et al : Serum Immunoglobulin A (IgA) Level Is a Potential Biomarker Indicating Cirrhosis during Chronic Hepatitis B Infection. Gastroenterol Res Pract 2016 : 2495073, 2016.
PubMed
9) Bal M, Gujral S, Gandhi J, et al : Angioimmunoblastic T-Cell lymphoma : a critical analysis of clinical, morphologic and immunophenotypic features. Indian J Pathol Microbiol 53 : 640-645, 2010.
PubMed
10) Zhao EJ, Cheng CV, Mattman A, et al : Polyclonal hypergammaglobulinaemia : assessment, clinical interpretation, and management. Lancet Haematol 8 : e365-e375, 2021.
PubMed
P.217 掲載の参考文献
1) Economopoulos T, Papageorgiou S, Pappa V, et al : Monoclonal gammopathies in B-cell non-Hodgkin's lymphomas. Leuk Res 27 : 505-508, 2003.
 
2) Sharma S, Gupta P, Aggarwal R, et al : Demystifying Biclonal Gammopathy : A Pathologist's Perspective. Lab Med 50 : 357-363, 2019.
PubMed
3) Kyle RA, Robinson RA, Katzmann JA : The clinical aspects of biclonal gammopathies. Review of 57 cases. Am J Med 71 : 999-1008, 1981.
PubMed
4) Guastafierro S, Ferrara MG, Sica A, et al : Serum double monoclonal components and hematological malignancies : only a casual association? Review of 34 cases. Leuk Res 36 : 1274-1277, 2012.
 
5) Kikuchi S, Wada A, Kamihara Y, et al : Involvement of activation induced cytidine deaminase in malignant B-cells expressing two distinct M-components as an etiology of biclonal gammopathy. Medicine (Baltimore) 101 : e32260, 2022.
 
6) Bakkus MH, Schots R, Gomez La Fuente PB, et al : Clonally related IgA- and IgE-secreting plasma cells in a myeloma patient. Eur J Haematol 65 : 348-355, 2000.
 
7) Tschumper RC, Dispenzieri A, Abraham RS, et al : Molecular analysis of immunoglobulin genes reveals frequent clonal relatedness in double monoclonal gammopathies. Blood Cancer J 3 : e112, 2013.
PubMed
8) Rudders RA, Yakulis V, Heller P : Double myeloma. Production of both IgG type lambda and IgA type lambda myeloma proteins by a single plasma cell line. Am J Med 55 : 215-221, 1973.
PubMed
9) Costea N, Yakulis VJ, Libnoch JA, et al : Two myeloma globulins (IgG and IgA) in one subject and one cell line. Am J Med 42 : 630-635, 1967.
PubMed
10) Gallart T, Blade J, Martinez-Quesada J, et al : Multiple myeloma with monoclonal IgG and IgD of lambda type exhibiting, under treatment, a shift from mainly IgG to mainly IgD. Immunology 55 : 45-57, 1985.
PubMed
11) Al Ismail A, Husain A, Kobayashi M, et al : Depletion of recombination-specific cofactors by the C-terminal mutant of the activation-induced cytidine deaminase causes the dominant negative effect on class switch recombination. Int Immunol 29 : 525-537, 2017.
 
12) Mullikin TC, Rajkumar SV, Dispenzieri A, et al : Clinical characteristics and outcomes in biclonal gammopathies. Am J Hematol 91 : 473-475, 2016.
PubMed
13) Gallart T, Blade J, Martinez-Quesada J, et al : Multiple myeloma with monoclonal IgG and IgD of lambda type exhibiting, under treatment, a shift from mainly IgG to mainly IgD. Immunology 55 : 45-57, 1985.
PubMed
P.220 掲載の参考文献
1) 野々山恵章 : IgG2, IgG3測定の意義. モダンメディア 61巻 11号, 327-329, 2015.
 
2) Knutsen AP : IgG subclass deficiency. section editor : Orange JS, deputy editor : Feldweg AM, UpToDate, www.update.com, download on December 5th, 2023.
 
3) Visitsunthorn N, Hengcrawit W, Jirapongsananuruk O, et al : Immunoglobulin G (IgG) subclass deficiency in Thai children. Asian Pac J Allergy Immunol 29 : 332-337, 2011.
PubMed
4) Damelang T, Rogerson SJ, Kent SJ, et al : Role of IgG3 in infectious diseases. Trends Immunol 40 : 197-211, 2019.
PubMed
5) Cunningham-Rundles C, Oxelius VA, Good RA : IgG2 and IgG3 subclass deficiencies in selective IgA deficiency in the United States. Birth Defects Orig Artic Ser 19 : 173-175, 1983.
 
6) Abrahamian F, Agrawal S, Gupta S : Immunological and clinical profile of adult patients with selective immunoglobulin subclass deficiency : response to intravenous immunoglobulin therapy. Clin Exp Immunol 159 : 344-350, 2010.
PubMed
7) Yamamoto T, Mizoguchi Y, Kaneno H, et al : Serum immunoglobulin G subclass levels and estimated clinical severity caused by possible influenza A (H1N1) pdm 2009 infection. J Infect Chemother 19 : 833-842, 2013.
 
8) Sakai E, Yamamoto T, Yamamoto K, et al : IgG3 deficiency and severity of 2009 pandemic H1N1 influenza. Pediatr Int 54 : 758-761, 2012.
PubMed
P.223 掲載の参考文献
1) Hofbauer D, Mougiakakos D, Broggini L, et al : β2-microglobulin triggers NLRP3 inflammasome activation in tumor-associated macrophages to promote multiple myeloma progression. Immunity 54 : 1772-1787.e9, 2021.
 
2) Cheung AK, Rocco MV, Yan G, et al : Serum beta-2 microglobulin levels predict mortality in dialysis patients : results of the HEMO study. J Am Soc Nephrol 17 : 546-555, 2006.
PubMed
3) Cheung AK, Greene T, Leypoldt JK, et al : Association between serum 2-microglobulin level and infectious mortality in hemodialysis patients. Clin J Am Soc Nephrol 3 : 69-77, 2008.
PubMed
4) Okuno S, Ishimura E, Kohno K, et al : Serum beta2-microglobulin level is a significant predictor of mortality in maintenance haemodialysis patients. Nephrol Dial Transplant 24 : 571-577, 2009.
PubMed
5) Ikee R, Honda K, Oka M, et al : Association of heart valve calcification with malnutrition-inflammation complex syndrome, beta-microglobulin, and carotid intima media thickness in patients on hemodialysis. Ther Apher Dial 12 : 464-468, 2008.
PubMed
6) Kanda E, Muenz D, Bieber B, et al : Beta-2 microglobulin and all-cause mortality in the era of high-flux hemodialysis : results from the Dialysis Outcomes and Practice Patterns Study. Clin Kidney J 14 : 1436-1442, 2021.
PubMed
7) Dember LM, Jaber BL : Dialysis-related amyloidosis : late finding or hidden epidemic? Semin Dial 19 : 105-109, 2006.
PubMed
8) Naiki H, Okoshi T, Ozawa D, et al : Molecular pathogenesis of human amyloidosis : Lessons from β2-microglobulin-related amyloidosis. Pathol Int 66 : 193-201, 2016.
 
9) Valleix S, Gillmore JD, Bridoux F, et al : Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. N Engl J Med 366 : 2276-2283, 2012.
 
10) Awara WM, Guo CH, Conn PM : Effects of Asn318 and Asp87Asn318 mutations on signal transduction by the gonadotropin-releasing hormone receptor and receptor regulation. Endocrinology 137 : 655-662, 1996.
PubMed
11) 川西秀樹, 峰島三千男, 友雅司, ほか : 血液浄化器 (中空糸型) の機能分類 2013. 日本透析会誌 46 : 501-506, 2013.
 
P.228 掲載の参考文献
1) Bassen FA, Kornzweig AL : Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood 5 : 381-387, 1950.
 
2) Kane JP, Havel R : Disorders of the biogenesis and secretion of lipoproteins containing the B apolipoproteins. In : The Metabolic and Molecular Bases of Inherited Disease, 8th ed (ed by Scriver CR, Beaudet AL, Sly WS, et al), p2717-2752, McGraw-Hill, New York, 2001.
 
3) Wetterau JR, Aggerbeck LP, Bouma ME, et al : Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia. Science 258 : 999-1001, 1992.
PubMed
4) Shoulders CC, Brett DJ, Bayliss JD, et al : Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein. Hum Mol Genet 2 : 2109-2116, 1993.
PubMed
5) Burnett JR, Hooper AJ, Hegele RA : Abetalipoproteinemia. In : GeneReviews [Internet] (ed by Adam MP, Feldman J, Mirzaa GM, et al), University of Washington, Seattle, 2018.
 
6) Biterova EI, Isupov MN, Keegan RM, et al : The crystal structure of human microsomal triglyceride transfer protein. Proc Natl Acad Sci U S A 116 : 17251-17260, 2019.
PubMed
7) Takahashi M, Okazaki H, Ohashi K, et al : Current Diagnosis and Management of Abetalipoproteinemia. J Atheroscler Thromb 28 : 1009-1019, 2021.
PubMed
8) Berriot-Varoqueaux N, Aggerbeck LP, Samson-Bouma M, et al : The role of the microsomal triglygeride transfer protein in abetalipoproteinemia. Annu Rev Nutr 20 : 663-697, 2000.
PubMed
9) Bredefeld C, Hussain MM, Averna M, et al : Guidance for the diagnosis and treatment of hypolipidemia disorders. J Clin Lipidol 16 : 797-812, 2022.
PubMed
10) Akamatsu K, Sakaue H, Tada K, et al : A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome) --the first case in Japan. Jpn J Med 22 : 231-236, 1983.
PubMed
11) Takahashi M, Ozaki N, Nagashima S, et al : Normal plasma apoB48 despite the virtual absence of apoB100 in a compound heterozygote with novel mutations in the MTTP gene. J Clin Lipidol 15 : 569-573, 2021.
 
12) Ohashi K, Ishibashi S, Osuga J, et al : Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia. J Lipid Res 41 : 1199-1204, 2000.
PubMed
P.234 掲載の参考文献
1) 日本動脈硬化学会 (編) : 動脈硬化性疾患予防のための脂質異常症診療ガイド 2023年版. 日本動脈硬化学会, 2023.
 
2) 日本動脈硬化学会 (編) : 動脈硬化性疾患予防のための脂質異常症診療ガイド2023年版低脂血症の診断と治療. 日本動脈硬化学会, 2023.
 
3) Koseki M, Yamashita S, Ogura M, et al : Current Diagnosis and Management of Tangier Disease. J Atheroscler Thromb 28 : 802-810, 2021.
PubMed
4) Muratsu J, Koseki M, Masuda D, et al : Accelerated Atherogenicity in Tangier Disease. J Atheroscler Thromb 25 : 1076-1085, 2018.
PubMed
5) Komuro R, Yamashita S, Sumitsuji S, et al : Tangier disease with continuous massive and longitudinal diffuse calcification in the coronary arteries : demonstration by the sagittal images of intravascular ultrasonography. Circulation 101 : 2446-2448, 2000.
PubMed
6) Koseki M, Matsuyama A, Nakatani K, et al : Impaired insulin secretion in four Tangier disease patients with ABCA1 mutations. J Atheroscler Thromb 16 : 292-296, 2009.
PubMed
7) Kuroda M, Bujo H, Yokote K, et al : Current Status of Familial LCAT Deficiency in Japan. J Atheroscler Thromb 28 : 679-691, 2021.
PubMed
8) Kanai M, Koh S, Masuda D, et al : Clinical features and visual function in a patient with Fish-eye disease : Quantitative measurements and optical coherence tomography. Am J Ophthalmol Case Rep 10 : 137-141, 2018.
 
9) Santos RD, Schaefer EJ, Asztalos BF, et al : Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency. J Lipid Res 49 : 349-357, 2008.
PubMed
10) Miccoli R, Bertolotto A, Navalesi R, et al : Compound heterozygosity for a structural apolipoprotein A-I variant, apo A-I (L141R) Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease. Circulation 94 : 1622-1628, 1996.
 
11) Kitamura A, Iso H, Naito Y, et al : High-density lipoprotein cholesterol and premature coronary heart disease in urban Japanese men. Circulation 89 : 2533-2539, 1994.
PubMed
12) Satoh H, Tomita K, Fujii S, et al : Lower high-density lipoprotein cholesterol is a significant and independent risk for coronary artery disease in Japanese men. J Atheroscler Thromb 16 : 792-798, 2009.
 
13) Soyama Y, Miura K, Morikawa Y, et al : High-density lipoprotein cholesterol and risk of stroke in Japanese men and women : the Oyabe Study. Stroke 34 : 863-868, 2003.
PubMed
14) Iso H, Sato S, Kitamura A, et al : Metabolic syndrome and the risk of ischemic heart disease and stroke among Japanese men and women. Stroke 38 : 1744-1751, 2007.
PubMed
15) Okamura T, Hayakawa T, Kadowaki T, et al : The inverse relationship between serum highdensity lipoprotein cholesterol level and all-cause mortality in a 9.6-year follow-up study in the Japanese general population. Atherosclerosis 184 : 143-150, 2006.
 
P.239 掲載の参考文献
1) Bennhold H, Peters H, Roth E : Uber einen fall von kompletter analbuminemie ohne wesentliche klinische Krankheitszeichen. Verh Dtsch Ges Inn Med 60 : 630-634, 1954.
 
2) 有森茂, ほか : 無アルブミン血症例の臨床像. 医学と生物学 80 : 11-17, 1970.
 
3) Minchiotti L, Caridi G, Campagnoli M, et al : Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia. Front Genet 10 : 336, 2019.
PubMed
4) Watkins S, Madison J, Galliano M, et al : Analbuminemia : three cases resulting from different point mutations in the albumin gene. Proc Natl Acad Sci U S A 91 : 9417-9421, 1994.
PubMed
5) Watkins S, Madison J, Galliano M, et al : A nucleotide insertion and frameshift cause analbuminemia in an Italian family. Proc Natl Acad Sci U S A 91 : 2275-2279, 1994.
 
6) Madison J, Galliano M, Watkins S, et al : Genetic variants of human serum albumin in Italy : point mutants and a carboxyl-terminal variant. Proc Natl Acad Sci U S A 91 : 6476-6480, 1994.
 
7) Ruffner DE, Dugaiczyk A : Splicing mutation in human hereditary analbuminemia. Proc Natl Acad Sci U S A 85 : 2125-2129, 1988.
PubMed
8) Nagase S, Shimamune K, Shumiya S : Albumin-deficient rat mutant. Science 205 : 590-591, 1979.
PubMed
9) Shalaby F, Shafritz DA : Exon skipping during splicing of albumin mRNA precursors in Nagase analbuminemic rats. Proc Natl Acad Sci U S A 87 : 2652-2656, 1990.
PubMed
10) Weinstock JV, Kawanishi H, Sisson J : Morphologic, biochemical and physiologic alterations in a case of idiopathic hypoalbuminemia (analbuminemia). Am J Med 67 : 132-139, 1979.
 
11) Cormode EJ, Lyster DM, Israels S : Analbuminemia in a neonate. J Pediatr 86 : 862-867, 1975.
 
12) Kallee E : Bennhold's analbuminemia : a follow-up study of the first two cases (1953-1992). J Lab Clin Med 127 : 470-480, 1996.
PubMed
13) Ochiai M, Ogawa K, Wakabayashi K, et al : Induction of intestinal adenocarcinomas by 2-amino-1-methyl-6-phenylimidazo [4,5-b] pyridine in Nagase analbuminemic rats. Jpn J Cancer Res 82 : 363-366, 1991.
PubMed
P.242 掲載の参考文献
1) Fraser GR, Harris H, Robson EB : A new genetically determined plasma-protein in man. Lancet 1 : 1023-1024, 1959.
PubMed
2) 祖父江鮮, 大林弘幸 : Double Albuminemiaの1家系. 生物物理化学 12 : 211-216, 1967.
 
3) Blumberg BS, Martin JR, Melartin L : Alloalbuminemia : albumin Naskapi in Indian of the Ungava. JAMA 203 : 180-185, 1968.
PubMed
4) McKusick VA, et al : 103600 Albumin. In : Mendelian inheritance in Man, 12th ed, p64-71, The Johns Hopkins Univ Press, Baltimore, 1998.
 
5) Dayhoff MO : Serum albumin. In : Atlas of Protein Sequence and Structure, Vol 5, p316, National Biomedical Research Foundation, Washington, 1972.
 
6) Minchiotti L, Caridi G, Campagnoli M, et al : Diagnosis, Phenotype, and Molecular Genetics of Congenital Analbuminemia. Front Genet 10 : 336, 2019.
PubMed
7) Melartin L, Blumberg BS : Albumin Naskapi : a new variant of serum albumin. Science 153 : 1664-1666, 1966.
PubMed
8) Franklin SG, Wolf SI, Zweidler A, et al : Localization of the amino acid substitution site in a new variant of human serum albumin, albumin Mexico-2. Proc Natl Acad Sci U S A 77 : 2505-2509, 1980.
 
9) Sugita O, Endo N, Yamada T, et al : The molecular abnormality of albumin Niigata : 269 Asp -> Gly. Clin Chim Acta 164 : 251-259, 1987.
PubMed
10) Brennan SO, Carrell RW : A circulating variant of human proalbumin. Nature 274 : 908-909, 1978.
PubMed
11) Nielsen H, Kragh-Hansen U, Minchiotti L, et al : Effect of genetic variation on the fatty acid-binding properties of human serum albumin and proalbumin. Biochem Biophys Acta 1342 : 191-204, 1997.
PubMed
12) Williams D : Bisalbuminemia with curious acrocyanotic skin changes (two cases). Proc R Soc Med 53 : 566-567, 1960.
PubMed
13) Arvan DA, Blumberg BS, Melartin L : Transient "bisalmuminemia" induced by drugs. Clin Chim Acta 22 : 211-218, 1968.
PubMed
14) Shashaty GG, Atamer MA : Acquired bisalbuminemia with hyperamylasemia. Am J Dig Dis 17 : 59-67, 1972.
PubMed
15) Kobayashi S, Okamura N, Kamoi K, et al : Bisalbumin (fast and slow type) induced by human pancreatic juice. Ann Clin Biochem 32 : 63-67, 1995.
PubMed
P.246 掲載の参考文献
1) フローチャート 2 : 栄養療法. 肝硬変診療ガイドライン 2020 改訂第3版 (日本消化器病学会, 日本肝臓学会編), p16-24, 南江堂, 2020.
 
2) Reilly JJ Jr, Hull SF, Albert N, et al : Economic impact of malnutrition : a model system for hospitalized patients. JPEN J Parenter Enteral Nutr 12 : 371-376, 1988.
 
3) 鈴木隆雄 : 2. 介護予防の視点からの高齢者の食と栄養. 日本老年医学会雑誌 47 : 426-429, 2010.
 
4) Evans DC, Corkins MR, Malone A, et al : The Use of Visceral Proteins as Nutrition Markers : An ASPEN Position Paper. Nutr Clin Pract 36 : 22-28, 2021.
PubMed
5) 榎本平之, 西口修平 : 肝硬変患者におけるアルブミン代謝について. 日本門脈圧亢進症学会雑誌 12 : 329-335, 2006.
 
6) 田中光, 丹藤雄介, 今昭人, ほか : 高齢者の低アルブミン血症に関する検討-食事摂取量および蛋白吸収能を考慮して-. 老年消化器病 21 : 109-113, 2009.
 
7) 野木正之, 中村光男 : 消化吸収不良の考え方 (1) -脂肪, たんぱく質, 炭水化物. 膵外分泌不全マニュアル (中村光男編, 竹内正, 一瀬雅夫監), p61-67, 診断と治療社, 2017.
 
8) 柳町幸, 中山弘文, 中村光男 : 胃全摘例での膵酵素補充の考え方. 膵外分泌不全マニュアル (中村光男編, 竹内正, 一瀬雅夫監), p140-144, 診断と治療社, 2017.
 
9) 一丸智美 : 成人短腸症候群の食事療法. J JSPEN 4 : 175-181, 2022.
 
10) 奥野正隆, 建部英春, 森脇久隆 : 細胞内におけるアルブミン合成系の制御 : アミノ酸. 栄養-評価と治療 24 : 123-126, 2007.
Medical*Online
11) 米田孝司 : 血漿蛋白の代謝のあらまし, 特に肝臓における産生調節. 臨床検査 60 : 354-360, 2016.
 
12) 中瀬一 : タンパク代謝. 日本臨床栄養代謝学会JSPENテキストブック (一般社団法人日本臨床栄養代謝学会編), p39-52, 南江堂, 2021.
 
13) 阿部貴弥, 守口万里子 : 14章 血清蛋白その他の生化学検査アルブミン (Alb). 臨床雑誌内科 125 増大号 : 753, 2020.
 
14) 福島秀樹 : 血清アルブミンのミクロヘテロゲニティーに対する治療介入. 栄養-評価と治療 24 : 147-150, 2007.
Medical*Online
15) Shannon CM, Ballew SH, Daya N, et al : Serum albumin and risks of hospitalization and death : Findings from the Atherosclerosis Risk in Communities study. J Am Geriatr Soc 69 : 2865-2876, 2021.
PubMed
P.252 掲載の参考文献
1) Alaggio R, Amador C, Anagnostopoulos I, et al : The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours : Lymphoid Neoplasms. Leukemia 36 : 1720-1748, 2022.
PubMed
2) Umehara H, Okazaki K, Kawa S, et al : The 2020 revised comprehensive diagnostic (RCD) criteria for IgG4-RD. Mod Rheumatol 31 : 529-533, 2021.
PubMed
3) 梅原久範, 岡崎和一, 川茂幸, ほか : 2020年改訂IgG4関連疾患包括診断基準-The 2020 revised comprehensive diagnostic (RCD) criteria for IgG4-RD-. 日内会誌 110 : 962-969, 2021.
 
4) Masaki Y, Matsui S, Saeki T, et al : A multicenter phase II prospective clinical trial of glucocorticoid for patients with untreated IgG4-related disease. Mod Rheumatol 27 : 849-854, 2017.
PubMed
5) Khosroshahi A, Carruthers MN, Deshpande V, et al : Rituximab for the treatment of IgG4-related disease : lessons from 10 consecutive patients. Medicine (Baltimore) 91 : 57-66, 2012.
PubMed
6) Topazian M, Witzig TE, Smyrk TC, et al : Rituximab therapy for refractory biliary strictures in immunoglobulin G4-associated cholangitis. Clin Gastroenterol Hepatol 6 : 364-366, 2008.
PubMed
7) Carruthers MN, Topazian MD, Khosroshahi A, et al : Rituximab for IgG4-related disease : a prospective, open-label trial. Ann Rheum Dis. 74 : 1171-1177, 2015.
PubMed
8) Hamano H, Kawa S, Horiuchi A, et al : High serum IgG4 concentrations in patients with sclerosing pancreatitis. N Engl J Med 344 : 732-738, 2001.
PubMed

XI 血栓形成性疾患

P.258 掲載の参考文献
1) Gindele R, Olah Z, Ilonczai P, et al : Founder effect is responsible for the p.Leu131Phe heparin-binding-site antithrombin mutation common in Hungary : phenotype analysis in a large cohort. J Thromb Haemost 14 : 704-715, 2016.
 
2) Sakata T, Okamoto A, Mannami T, et al : Protein C and antithrombin deficiency are important risk factors for deep vein thrombosis in Japanese. J Thromb Haemost 2 : 529-530, 2004.
 
3) Rodeghiero F, Tosetto A : The epidemiology of inherited thrombophilia : the VITA Project. Vicenza Thrombophilia and Atherosclerosis Project. Thromb Haemost 78 : 636-640, 1997.
PubMed
4) Sokol J, Timp JF, le Cessie S, et al : Mild antithrombin deficiency and risk of recurrent venous thromboembolism : results from the MEGA follow-up study. J Thromb Haemost 16 : 680-688, 2018.
PubMed
5) Van Cott EM, Orlando C, Moore GW, et al : Recommendations for clinical laboratory testing for antithrombin deficiency ; Communication from the SSC of the ISTH. J Thromb Haemost 18 : 17-22, 2020.
PubMed
6) Kobayashi T, Sugiura K, Ojima T, et al : Thrombosis-related characteristics of pregnant women with antithrombin deficiency, protein C deficiency and protein S deficiency in Japan. Thromb J 22 : 18, 2024.
PubMed
7) Rossi E, Chiusolo P, Za T, et al : Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His) : demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk. Thromb Haemost 98 : 695-697, 2007.
PubMed
8) Kovac M, Mitic G, Mikovic Z, et al : The influence of specific mutations in the AT gene (SERPINC1) on the type of pregnancy related complications. Thromb Res 173 : 12-19, 2019.
PubMed
9) Ohga S, Ishiguro A, Takahashi Y, et al : Protein C deficiency as the major cause of thrombophilias in childhood. Pediatr Int 55 : 267-271, 2013.
PubMed
10) Terakami T, Nagaya S, Hayashi K, et al : Effect on Plasma Protein S Activity in Patients Receiving the Factor Xa Inhibitors. J Atheroscler Thromb 29 : 1059-1068, 2022.
PubMed
11) Navarro-Fernandez J, de la Morena-Barrio ME, Padilla J, et al : Antithrombin Dublin (p.Val30Glu) : a relatively common variant with moderate thrombosis risk of causing transient antithrombin deficiency. Thromb Haemost 116 : 146-154, 2016.
 
12) Daly ME, Cooper PC, Hickey KP, et al : Transient inherited antithrombin deficiency : a real phenomenon? Thromb Haemost 117 : 642-643, 2017.
PubMed
13) de la Morena-Barrio ME, Suchon P, Jacobsen EM, et al : Two SERPINC1 variants affecting N-glycosylation of Asn224 cause severe thrombophilia not detected by functional assays. Blood 140 : 140-151, 2022.
 
P.264 掲載の参考文献
1) Sakata T, Okamoto A, Mannami T, et al : Protein C and antithrombin deficiency are important risk factors for deep vein thrombosis in Japanese. J Thromb Haemost 2 : 528-530, 2004.
PubMed
2) Dinarvand P, Moser KA : Protein C Deficiency. Arch Pathol Lab Med 143 : 1281-1285, 2019.
PubMed
3) 大賀正一, 江上直樹, 堀田多恵子, ほか : 栓友病と遺伝性血栓性素因母子を守る個別医療へ. 臨床血液 64 : 1131-1136, 2023.
 
4) Ohga S, Ishiguro A, Takahashi Y, et al : Protein C deficiency as the major cause of thrombophilias in childhood. Pediatr Int 55 : 267-271, 2013.
PubMed
5) Uehara E, Nakao H, Tsumura Y, et al : Slow Elevation in Protein C Activity without a PROC Mutation in a Neonate with Intracranial Hemorrhage. AJP Rep 8 : e68-e70, 2018.
 
6) Okuzono S, Ishimura M, Kanno S, et al : Streptococcus pyogenes-purpura fulminans as an invasive form of group A streptococcal infection. Ann Clin Microbiol Antimicrob 17 : 31, 2018.
PubMed
7) Egami N, Ochiai M, Ichiyama M, et al : Clinical Impact of Heritable Thrombophilia on Neonatal-Onset Thromboembolism : A Nationwide Study in Japan. J Pediatr 238 : 259-267.e2, 2021.
 
8) 高橋幸博, 吉岡章 : 小児期の凝固・線溶およびその調節・阻止機構. 日本小児血液学会雑誌 8 : 389-397, 1994.
 
9) Ichiyama M, Inoue H, Ochiai M, et al : Diagnostic challenge of the newborn patients with heritable protein C deficiency. J Perinatol 39 : 212-219, 2019.
PubMed
10) 芦名満理子, 仲宗根瑠花, 阿部真也, ほか : 高感度PIVKA II 測定法を用いたハイリスク新生児における潜在性ビタミンK欠乏症のスクリーニング. 日本産婦人科・新生児血液学会誌 30 : 51-52, 2020.
Medical*Online
11) Minford A, Brandao LR, Othman M, et al : Diagnosis and management of severe congenital protein C deficiency (SCPCD) : Communication from the SSC of the ISTH. J Thromb Haemost 20 : 1735-1743, 2022.
 
12) 吉田正司, 康勝好, 渡邉健太郎, ほか : 重症先天性プロテインC欠損症患者へのPPSB-HTの有用性. 日本小児血液・がん学会雑誌 55 : 204-207, 2018.
Medical*Online
13) Watanabe K, Arakawa Y, Yanagi M, et al : Management of severe congenital protein C deficiency with a direct oral anticoagulant, edoxaban : A case report. Pediatr Blood Cancer 66 : e27686, 2019.
PubMed
14) Poschl J, Behnisch W, Beedgen B, et al : Case Report : Successful Long-Term Management of a Low-Birth Weight Preterm Infant With Compound Heterozygous Protein C Deficiency With Subcutaneous Protein C Concentrate Up to Adolescence. Front Pediatr 9 : 591052, 2021.
PubMed
15) Kurihara T, Endo T, Obata S, et al : Surgical treatment of traction retinal detachment associated with compound heterozygous congenital protein C deficiency. Am J Ophthalmol Case Rep 30 : 101854, 2023.
PubMed
P.268 掲載の参考文献
1) Gierula M, Ahnstrom J : Anticoagulant protein S-New insights on interactions and functions. J Thromb Haemost 18 : 2801-2811, 2020.
PubMed
2) Dahlback B, Stenflo J : High molecular weight complex in human plasma between vitamin K-dependent protein S and complement component C4b-binding protein. Proc Natl Acad Sci U S A 78 : 2512-2516, 1981.
PubMed
3) Dahlback B : The protein C anticoagulant system : inherited defects as basis for venous thrombosis. Thromb Res 77 : 1-43, 1995.
PubMed
4) Heeb MJ, Mesters RM, Tans G, et al : Binding of protein S to factor Va associated with inhibition of prothrombinase that is independent of activated protein C. J Biol Chem 268 : 2872-2877, 1993.
PubMed
5) Heeb MJ, Rosing J, Bakker HM, et al : Protein S binds to and inhibits factor Xa. Proc Natl Acad Sci U S A 91 : 2728-2732, 1994.
PubMed
6) Marlar RA, Gausman JN, Tsuda H, et al : Recommendations for clinical laboratory testing for protein S deficiency : Communication from the SSC committee plasma coagulation inhibitors of the ISTH. J Thromb Haemost 19 : 68-74, 2021.
 
7) Castoldi E, Maurissen LF, Tormene D, et al : Similar hypercoagulable state and thrombosis risk in type I and type III protein S-deficient individuals from families with mixed type I/III protein S deficiency. Haematologica 95 : 1563-1571, 2010.
PubMed
8) Kimura R, Sakata T, Kokubo Y, et al : Plasma protein S activity correlates with protein S genotype but is not sensitive to identify K196E mutant carriers. J Thromb Haemost 4 : 2010-2013, 2006.
 
9) Kimura R, Honda S, Kawasaki T, et al : Protein S-K196E mutation as a genetic risk factor for deep vein thrombosis in Japanese patients. Blood 107 : 1737-1738, 2006.
PubMed
10) Pabinger I, Schneider B : Thrombotic risk in hereditary antithrombin III, protein C, or protein S deficiency. A cooperative, retrospective study. Gesellschaft fur Thrombose- und Hamostaseforschung (GTH) Study Group on Natural Inhibitors. Arterioscler Thromb Vasc Biol 16 : 742-748, 1996.
 
11) Martinelli I, Mannucci PM, De Stefano V, et al : Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia : a study of 150 families. Blood 92 : 2353-2358, 1998.
PubMed
12) Hayashi T, Nishioka J, Suzuki K : Molecular mechanism of the dysfunction of protein S (Tokushima) (Lys155 -> Glu) for the regulation of the blood coagulation system. Biochim Biophys Acta 1272 : 159-167, 1995.
PubMed
13) 一般社団法人日本血栓止血学会 : 遺伝性血栓性素因患者の妊娠分娩管理に関する診療の手引きQ&A. (https://www.jsth.org/wordpress/wp-content/uploads/2021/05/遺伝性血栓性素因患者の妊娠分分娩管理に関する診療の手引きQA.pdf) [Accessed 2024 Feb 11]
 
14) Sekiya A, Hayashi T, Kadohira Y, et al : Thrombosis Prediction Based on Reference Ranges of Coagulation-Related Markers in Different Stages of Pregnancy. Clin Appl Thromb Hemost 23 : 844-850, 2017.
PubMed
15) Terakami T, Nagaya S, Hayashi K, et al : Effect on Plasma Protein S Activity in Patients Receiving the Factor Xa Inhibitors. J Atheroscler Thromb 29 : 1059-1068, 2022.
PubMed
P.273 掲載の参考文献
1) Dahlback B, Carlsson M, Svensson PJ : Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C : prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A 90 : 1004-1008, 1993.
PubMed
2) Bertina RM, Koeleman BP, Koster T, et al : Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 369 : 64-67, 1994.
PubMed
3) Chan WP, Lee CK, Kwong YL, et al : A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood 91 : 1135-1139, 1998.
 
4) Williamson D, Brown K, Luddington R, et al : Factor V Cambridge : a new mutation (Arg306 -> Thr) associated with resistance to activated protein C. Blood 91 : 1140-1144, 1998.
PubMed
5) Mumford AD, McVey JH, Morse CV, et al : Factor V I359T : a novel mutation associated with thrombosis and resistance to activated protein C. Br J Haematol 123 : 496-501, 2003.
PubMed
6) Cai H, Hua B, Fan L, et al : A novel mutation (g2172 -> c) in the factor V gene in a Chinese family with hereditary activated protein C resistance. Thromb Res 125 : 545-548, 2010.
 
7) Nogami K, Shinozawa K, Ogiwara K, et al : Novel FV mutation (W1920R, FV Nara) associated with serious deep vein thrombosis and more potent APC resistance relative to FVLeiden. Blood 123 : 2420-2428, 2014.
PubMed
8) Pezeshkpoor B, Castoldi E, Mahler A, et al : Identification and functional characterization of a novel F5 mutation (Ala512Val, FV Bonn) associated with activated protein C resistance. J Thromb Haemost 14 : 1353-1363, 2016.
PubMed
9) Shen L, Dahlback B : Factor V and protein S as synergistic cofactors to activated protein C in degradation of factor VIIIa. J Biol Chem 269 : 18735-18738, 1994.
PubMed
10) Norstrom E, Thorelli E, Dahlback B : Functional characterization of recombinant FV Hong Kong and FV Cambridge. Blood 100 : 524-530, 2002.
PubMed
11) 山崎鶴夫 : Factor Vを見直そう : Factor V R2 haplotypeと血栓症. 日本血栓止血学会誌 14 : 310-315, 2003.
 
12) 野上恵嗣 : 血友病診療・最近の話題血友病A患者へのエミシズマブ使用時の止血モニタリング. 日本血栓止血学会誌 32 : 3-11, 2021.
 
13) Martinelli I, Mannucci PM, De Stefano V, et al : Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia : a study of 150 families. Blood 92 : 2353-2358, 1998.
PubMed
14) Sarasin FP, Bounameaux H : Decision analysis model of prolonged oral anticoagulant treatment in factor V Leiden carriers with first episode of deep vein thrombosis. BMJ 316 : 95-99, 1998.
PubMed
15) Ridker PM, Goldhaber SZ, Danielson E, et al : Long-term, low-intensity warfarin therapy for the prevention of recurrent venous thromboembolism. N Engl J Med 348 : 1425-1434, 2003.
PubMed
P.279 掲載の参考文献
1) Urano T, Castellino FJ, Suzuki Y : Regulation of plasminogen activation on cell surfaces and fibrin. J Thromb Haemost 16 : 1487-1497, 2018.
PubMed
2) Urano T, Suzuki Y, Iwaki T, et al : Recognition of Plasminogen Activator Inhibitor Type 1 as the Primary Regulator of Fibrinolysis. Curr Drug Targets 20 : 1695-1701, 2019.
PubMed
3) Iwaki T, Urano T, Umemura K : PAI-1, progress in understanding the cli