髓系肿瘤表观遗传学分子标志研究进展

Research on molecular markers for epigenetic changes in myeloid malignancies

血液系统髓系肿瘤中存在多种重现性体细胞突变，近年来新发现的TET甲基胞嘧啶双加氧酶2、DNA甲基转移酶3A、异柠檬酸脱氢酶1／2、果蝇zeste基因增强子的人类同源基因产物2和性梳样蛋白1参与表观遗传学修饰的调控，这些基因突变的发现为髓系肿瘤的研究提供了重要的分子标志。本文中我们阐述了上述分子标志在髓系肿瘤发病机制中的作用及其相关临床意义。

Novel recurrent somatic mutations have been identified in patients with myeloid malignancies including myeloproliferative neoplasms （MPNs）, myelodysplastic syndrome （MDS） and acute myeloid leukaemia （AML）. Mutations of tet methylcytosine dioxygenase 2 （TET2）, DNA methyltransferase 3A （DNMT3A）, isocltrate dehydrogenase （IDH）1/2, enhancer of zeste homologue 2 （EZH2） and additional sex combs-like 1 （ASXL1）have been shown to play important roles in the regulation of epigenetic patterning, and may be used as molecular predictors for pathogenesis and clinical outcome for patients with myeloid malignancies.