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[髓系恶性肿瘤表观遗传变化的分子标志物研究]

[Research on molecular markers for epigenetic changes in myeloid malignancies].

作者信息

Li Lin, Sun Xue-mei

机构信息

Department of Hematology, Jiangsu Province Hospital of Traditional Chinese Medicine, Nanjing University of Chinese Medicine, Nanjing, Jiangsu 210029, P.R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Dec;30(6):687-92. doi: 10.3760/cma.j.issn.1003-9406.2013.06.012.

Abstract

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), isocitrate 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.

摘要

在髓系恶性肿瘤患者中已鉴定出新型复发性体细胞突变,这些患者包括骨髓增殖性肿瘤(MPN)、骨髓增生异常综合征(MDS)和急性髓系白血病(AML)。已证实,四甲基胞嘧啶双加氧酶2(TET2)、DNA甲基转移酶3A(DNMT3A)、异柠檬酸脱氢酶(IDH)1/2、zeste同源物2增强子(EZH2)和额外性梳样蛋白1(ASXL1)的突变在表观遗传模式调控中发挥重要作用,并且可作为髓系恶性肿瘤患者发病机制和临床结局的分子预测指标。

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