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恶性血液病的表观遗传学研究进展
引用本文:张玉凤,叶芳.恶性血液病的表观遗传学研究进展[J].国际输血及血液学杂志,2016(4):345-349.
作者姓名:张玉凤  叶芳
作者单位:1. 山西医科大学研究生院临床二系,太原市,030001;2. 100022,清华大学附属北京市垂杨柳医院血液科
基金项目:山西省国际科技合作项目(2012081044-1),山西省科技攻关项目(20150313012-5)International Science and Technology Cooperation Project of Shanxi Province(2012081044-1),Science and Technology Research Projects of Shanxi Province(20150313012-5)
摘    要:表观遗传学是研究可遗传的、基因DNA序列不发生改变的基因表达调控的一门新学科.近年来,诸多研究结果均表明,表观遗传学异常改变在恶性血液病的发生、发展过程中起着十分重要的作用.相关基因异常甲基化是骨髓增生异常综合征(MDS)发生、发展的重要因素之一,并且与MDS患者的预后相关;微小RNA (miRNA)的异常甲基化与急性髓细胞白血病(AML)相关;zeste基因增强子同源物(EZH)2基因通过突变、缺失或过表达,甲基化下游靶基因调控其转录水平,从而与淋巴瘤等多种恶性血液病相关.针对表观遗传学异常改变的治疗方案给恶性血液病的免疫治疗赋予更广的内涵.笔者拟就表观遗传学异常改变在恶性血液病中的最薪研究进展,以及针对表观遗传学异常改变的免疫治疗方案的相关研究与应用前景进行综述.

关 键 词:表观基因组  血液病  免疫疗法

Research progress of epigenetics in malignant hematological diseases
Abstract:Epigenetics is an emerging discipline studying the gene regulation and expression,which is heritable and not related to the changes in genetic DNA sequence.In recent years,a lot of evidences show that epigenetics plays an important role in the development of the malignant hematological diseases.Abnormal DNA methylation is one of the important factors in myelodysplastic syndrome (MDS) development,and related to its prognosis.Researches have proved that the microRNA (miRNA) methylation is associated with acute myeloid leukemia (AML).Enhancer of zeste homolog (EZH) 2 gene mutation,deletion,or overexpression is associated with lymphoma and other malignancies via regulating targeted gene expression level by methylation.Treatments aimed at epigenetic modification give immunotherapy of malignancies with wider implications.In this review,the latest research progress of epigenetics studies and the prospect of epigenetics therapy for malignant hematological diseases are summarized.
Keywords:Epigenomics  Hematologic diseases  Immunotherapy
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