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髓系白血病
累积发病率
髓样
白血病
染色体易位
生物
突变
癌症研究
医学
肿瘤科
免疫学
造血
内科学
遗传学
干细胞
移植
基因
作者
Jean-Baptiste Micol,Nicolas Duployez,Nicolas Boissel,Arnaud Petit,Sandrine Geffroy,Olivier Nibourel,Catherine Lacombe,Hélène Lapillonne,Pascaline Étancelin,Martin Figeac,Aline Renneville,Sylvie Castaigné,Guy Leverger,Norbert Ifrah,Hervé Dombret,Claude Preudhomme,Omar Abdel-Wahab,Éric Jourdan
出处
期刊:Blood
[American Society of Hematology]
日期:2014-08-28
卷期号:124 (9): 1445-1449
被引量:103
标识
DOI:10.1182/blood-2014-04-571018
摘要
Acute myeloid leukemia (AML) with t(8;21) (q22;q22) is considered to have favorable risk; however, nearly half of t(8;21) patients are not cured, and recent studies have highlighted remarkable genetic heterogeneity in this subset of AML. Here we identify somatic mutations in additional sex combs-like 2 (ASXL2) in 22.7% (25/110) of patients with t(8;21), but not in patients with inv(16)/t(16;16) (0/60) or RUNX1-mutated AML (0/26). ASXL2 mutations were similarly frequent in adults and children t(8;21) and were mutually exclusive with ASXL1 mutations. Although overall survival was similar between ASXL1 and ASXL2 mutant t(8;21) AML patients and their wild-type counterparts, patients with ASXL1 or ASXL2 mutations had a cumulative incidence of relapse of 54.6% and 36.0%, respectively, compared with 25% in ASXL1/2 wild-type counterparts (P = .226). These results identify a high-frequency mutation in t(8;21) AML and identify the need for future studies to investigate the clinical and biological relevance of ASXL2 mutations in this unique subset of AML.
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