中文摘要：

介绍第57届美国血液学会（ASH）年会有关初发骨髓增生异常综合征（MDS）患者体细胞突变与治疗反应的研究进展。目前对于初发高危MDS的最佳治疗方式和治疗时间仍未达成共识。目前的临床预后积分系统并没有包括组蛋白／核染色质修饰的分子遗传学异常和DNA甲基化，这两者可能预测去甲基化药物（HMA）治疗的效果。通过HMA治疗，可能改变与预后有关的基因表达，而具有多样化等位基因的TET2突变患者对HMA治疗的反应率明显提高。选择去甲基化治疗而不是普通诱导缓解化疗方案所基于的证据级别是2C，主要判断是基于HMA的化疗方案毒性更低，而TET2突变患者治疗反应率更高。下一步需要深入的前瞻性研究来评价伴TET2突变患者接受去甲基化治疗后的长期疗效。

英文摘要：

Research progress of somatic mutations and the response to the treatment of de novo myelodysplastic syndromes （MDS） patients in the 57th American Society of Hematology （ASH） annual meetings was reviewed. The optimal methods and therapy time for patients with high-risk de novo MDS remained an area of ongoing investigation. The clinical prognostic scoring system does not include the molecular genetic abnormalities and DNA metlylation of histone/nuclear chromatin modifications, which may predict the effect of hypomethylation （HMA）. Treatment of HMA may change the expression of genes related with prognosis, and the response rate to the HMA treatment was significantly increased for TET2-mutated patients with high-variant allele frequencies. The overall grade of recommendation for choosing HMA therapy over induction chemotherapy in high-risk MDS based on molecular genetic mutations was 2C, according to less-associated toxicity and increased responses primarily in TET2-mutated disease. Further prospective studies are needed to evaluate the long-term effects of HMA therapy, particularly in TET2-mutated patients.