标题：DNMT3A R882突变在成人急性髓系白血病中的研究进展

      作者：王蕾，杨艳丽    （蚌埠医学院第一附属医院血液科，安徽 蚌埠 233000）

      卷次： 2017年28卷5期

      【摘要】 DNA甲基化转移酶 3A (DNMT3A)是重要的DNA甲基化转移酶之一，与血液系统恶性肿瘤的发生发展密切相关。近几年研究发现DNMT3A R882在成人急性髓系白血病(AML)中高频突变，并且成为研究热点。DNMT3A R882突变通过改变DNMT3A结构，使DNMT3A酶活性下降、全基因组DNA低甲基化，促进成人AML发生发展。DNMT3A R882突变在成人AML患者完全缓解(CR)时的长期存在，是预后不良的主要生物分子学标志，同时也意味着常规的微小残留病灶监测(MRD)不能作为R882突变的分子标志。现就近几年对成人AML患者中DNMT3A R882突变的研究进展做一综述。
      【关键词】 急性髓系白血病；DNA甲基化转移酶3A；突变
      【中图分类号】 R733.71 【文献标识码】 A 【文章编号】 1003—6350（2017）05—0787—04

Advances of DNMT3A R882 mutation in acute myeloid leukemia.
WANG Lei, YANG Yan-li. Department ofHematology, the First Affiliated Hospital of Bengbu Medical College, Bengbu 233000, Anhui, CHINA【Abstract】 DNA methyltransferase 3A (DNMT3A), one of important DNA methyltransferases, is closely relatedto the occurrence and development of hematologic malignancies. In recent years, studies have founded that there aremore frequently DNMT3A R882 mutations in adult acute myeloid leukemia (AML), which becomes a hot topic. DN-MT3A R882 mutation decreases the DNMT3A enzyme activity, makes genome-wide showing DNA hypomethylationand promotes the occurrence and development of adult AML by altering the structure of DNMT3A. The long-term pres-ence of DNMT3A R882 mutations in complete remission (CR) of adult AML is a biological marker of poor prognosis,and it also indicates that routine monitoring of minimal residual disease (MRD) can not be used as a molecular marker ofR882 mutation. Now this paper reviews the advances in study on DNMT3A R882 mutations of adult AML patients.
      【Key words】 Acute myeloid leukemia; DNA methyltransferase 3A; Mutation·综 述·doi:10.3969/j.issn.1003-6350.2017.05.034