【摘要】 骨髓增生异常综合征(MDS)是一组异质性克隆性疾病,基本病变是克隆性造血干细胞发育异常,导致无效造血及高风险向急性髓系白血病(AML)转化。目前MDS发病机制仍不明确,随着人类对基因测序研究的深入,发现表观遗传学异常是MDS发病的重要机制之一,而DNA甲基化则是恶性肿瘤表观遗传学修饰的主要方式之一。通过抑制DNA异常甲基化可延长部分MDS患者的生存期,降低AML的转化率。目前FDA批准的去甲基化药物为阿扎胞苷、地西他滨。更多还原

【Abstract】 Myelodysplastic Syndrome(MDS) is a heterogeneous group of clonal diseases. The underlying disease is dysplasia of clonal hematopoietic stem cells, resulting in ineffective hematopoiesis and high risk of transformation into acute myeloid leukemia(AML). At present, the pathogenesis of MDS is unclear. With the deepening of human gene sequencing research, it has been found that epigenetic abnormalities are one of the important mechanisms of the pathogenesis of MDS, and DNA methylation are one of the main modes of epigenetic modification of malignant tumors. By inhibiting DNA aberrant methylation, the survival of some MDS patients can be prolonged and the conversion rate of AML can be reduced. The current FDA-approved demethylation drugs are azacitidine and decitabine.更多还原