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雑誌文献

臨床検査63巻7号

2019年07月発行

文献概要

今月の特集1 造血器腫瘍の遺伝子異常

急性骨髄性白血病の遺伝子異常

著者: 山口博樹1

所属機関: 1日本医科大学血液内科

ページ範囲:P.811 - P.817

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●急性骨髄性白血病(AML)はさまざまな染色体異常や遺伝子異常がその発症に関与しているheterogeneousな疾患である.

●AMLでは染色体異常や遺伝子変異によって予後を層別化し,同種造血幹細胞移植(allo-HSCT)の適応を決める.

●AMLにおいてFLT3 ITDは頻度が高く最も重要な予後不良因子である.

●AMLにおいてNPM1変異,CEBPA変異などが予後因子として重要となってきている.

参考文献

1)Miyawaki S:Clinical studies of acute myeloid leukemia in the Japan Adult Leukemia Study Group. Int J Hematol 96:171-177,2012
2)Döhner H, Estey EH, Amadori S, et al:Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood 115:453-474,2010
3)日本血液学会(監訳):NCCN腫瘍学臨床診療ガイドライン 急性骨髄性白血病 2014年 第2版,臨床研究情報センター,2014(https://www2.tri-kobe.org/nccn/guideline/hematologic/japanese/aml.pdf)(最終アクセス:2019年3月28日)
4)Döhner H, Estey E, Grimwade D, et al:Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel. Blood 129:424-447,2017
5)Sakaguchi M, Yamaguchi H, Najima Y, et al:Prognostic impact of low allelic ratio FLT3-ITD and NPM1 mutation in acute myeloid leukemia. Blood Adv 2:2744-2754,2018
6)Kurosawa S, Yamaguchi H, Yamaguchi T, et al:The prognostic impact of FLT3-ITD, NPM1 and CEBPA mutation of the first relapse patients with intermediate-risk AML treated with chemotherapy alone, in press
7)Kurosawa S, Yamaguchi H, Yamaguchi T, et al:Decision Analysis of Postremission Therapy in Cytogenetically Intermediate-Risk Acute Myeloid Leukemia:The Impact of FLT3 Internal Tandem Duplication, Nucleophosmin, and CCAAT/Enhancer Binding Protein Alpha. Biol Blood Marrow Transplant 22:1125-1132,2016
8)Wakita S, Yamaguchi H, Ueki T, et al:Complex molecular genetic abnormalities involving three or more genetic mutations are important prognostic factors for acute myeloid leukemia. Leukemia 30:545-554,2016
9)Krönke J, Bullinger L, Teleanu V, et al:Clonal evolution in relapsed NPM1-mutated acute myeloid leukemia. Blood 122:100-108,2013
10)Ryotokuji T, Yamaguchi H, Ueki T, et al:Clinical characteristics and prognosis of acute myeloid leukemia associated with DNA-methylation regulatory gene mutations. Haematologica 101:1074-1081,2016
11)Terada K, Yamaguchi H, Ueki T, et al:Full-length mutation search of the TP53 gene in acute myeloid leukemia has increased significance as a prognostic factor. Ann Hematol 97:51-61,2018
12)Wakita S, Yamaguchi H, Miyake K, et al:Importance of c-kit mutation detection method sensitivity in prognostic analyses of t(8;21)(q22;q22) acute myeloid leukemia. Leukemia 25:1423-1432,2011
13)Yui S, Kurosawa S, Yamaguchi H, et al:D816 mutation of the KIT gene in core binding factor acute myeloid leukemia is associated with poorer prognosis than other KIT gene mutations. Ann Hematol 96:1641-1652,2017
14)Shlush LI, Zandi S, Mitchell A, et al:Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia. Nature 506:328-333,2014
15)Genovese G, Kähler AK, Handsaker RE, et al:Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med 371:2477-2487,2014
16)Wakita S, Yamaguchi H, Omori I, et al:Mutations of the epigenetics-modifying gene (DNMT3a, TET2, IDH1/2) at diagnosis may induce FLT3-ITD at relapse in de novo acute myeloid leukemia. Leukemia 27:1044-1052,2013
17)Patel JP, Gönen M, Figueroa ME, et al:Prognostic relevance of integrated genetic profiling in acute myeloid leukemia. N Engl J Med 366:1079-1089,2012

掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1367

印刷版ISSN:0485-1420

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