Wakita Satoshi, Yamaguchi Hiroki
Nihon Rinsho. 2014 Jun;72(6):1026-32.
In recent years, recurrent somatic mutations in genes encoding proteins involved in DNA methylation and demethylation, and in histone modifications have been reported in myeloid malignancies. Large clinical correlative studies are beginning to clear the clinical importance, prevalence, and potential prognostic significance of these epigenetics modifying gene mutations. Additionally, recent studies shedding light on the role of epigenetics in the pathogenesis of myeloid malignancies has prompted increased interest in development of novel therapies which target DNA and histone posttranslational modifications. In this review, we summarize the current understanding of the epigenetics modifying gene mutation, discuss how contribute to its pathogenesis and clinical feature in AML.
近年来，在髓系恶性肿瘤中已报道了编码参与DNA甲基化、去甲基化及组蛋白修饰相关蛋白的基因存在复发性体细胞突变。大型临床相关性研究开始明确这些表观遗传修饰基因突变的临床重要性、发生率及潜在的预后意义。此外，近期有关表观遗传学在髓系恶性肿瘤发病机制中作用的研究，激发了人们对开发针对DNA和组蛋白翻译后修饰的新型疗法的兴趣。在本综述中，我们总结了目前对表观遗传修饰基因突变的认识，讨论了其在急性髓系白血病发病机制及临床特征中的作用。
