DNA 甲基转移酶3A（DNMT3A）是表观遗传修饰相关的重要基因之一，承担着DNA 从头甲基化的修饰工作。DNMT3A 基 因突变可见于多种血液系统肿瘤，尤其在急性髓系白血病（AML）中发生频率较高，并提示预后不良。近年来的研究显示，DNMT3A 等表观遗传相关基因异常在血液肿瘤的发生发展中起重要作用，是 AML 发病的第Ⅲ类致病基因。该文就 DNMT3A 基因突变在血液肿 瘤中的临床及相关基础研究进展作一综述。

DNA methyltransferase 3A (DNMT3A) is one of the critical epigenetic modifiers responsible for de novo DNA methylation. DNMT3A mutations are identified in some kinds of hematological malignancies, especially in acute myeloid leukemia (AML) with high frequency, indicating poor prognosis. Recent researches have shown that abnormalities of epigenetic related genes such as DNMT3A play important roles in the development and progression of hematological malignancies, which was named as class Ⅲ mutation associated with the pathogenesis of AML. In this review, the progresses of clinical and basic researches about DNMT3A mutation in hematological malignancies were summarized.