摘要急性髓系白血病(AML)是一组基因改变导致的造血干细胞克隆性增殖失调的异质性疾病.尽管根据细胞遗传学、分子遗传学和临床表现等特征进行分层治疗可以提高年轻AML患者的治疗效果,但是老年AML患者的总体生存率仍然较差.最近几年,新一代测序技术已经证实在大部分AML患者中编码参与转录表观调节蛋白的基因频发突变,这促使人们对AML患者的表观基因组有了新的认识,并使针对表观突变基因的靶向治疗成为可能.文章介绍第56届美国血液学会(ASH)年会关于AML常见的表观遗传学基因突变及其重要作用、表观突变基因潜在的治疗靶点和去甲基化药物的临床运用等.

abstractsAcute myeloid leukemia (AML) is a kind of genetic heterogeneous clonal hematopoietic stem cell disorder.Although there were improvements in the outcomes of selected younger patients and those with specific cytogenetic and molecular genetic characteristics,the overall survival for older patients remains dismal.In the last few years,next-generation sequencing technologies have identified recurrent mutations in genes encoding proteins involved in the epigenetic regulation of transcription in most patients with AML.This discovery has led to new insights into the role of the epigenome in AML and opens the possibility of epigenetically targeted therapies.This article will review the most important recurrent mutations in epigenetic regulatory genes and highlight the current and future treatment strategies that attempt to exploit epigenetic targets with the use of hypomethylating agents,which were reported on the 56th American Society of Hematology annual congress in 2014.