骨髓增生异常综合征去甲基化治疗选择的研究进展

Research progress on choice of hypomethylating treatment in myelodysplastic syndromes

骨髓增生异常综合征（MDS）临床表现和转归具有较大的异质性,根据患者的预后分级情况,同时结合其年龄、体能状况、治疗依从性等进行综合评估,进而选择个体化的治疗方案,这对于MDS的诊治尤为重要.去甲基化药物治疗MDS的总有效率为40％～60％.MDS患者骨髓原始细胞比例＞5％、伴不良染色体核型时,可选择去甲基化治疗.血小板计数≥100×109/L与白细胞计数＜3.0×109/L是预测去甲基化治疗MDS有较高反应率的独立影响因素.HLA-DR1501阳性MDS患者的治疗选择尚有争议.TET2突变阳性、DNMT3A突变阳性及ASXL1突变阴性MDS患者对去甲基化治疗反应率较高.笔者主要从MDS预后分组、临床指标、基因突变等方面对MDS去甲基化治疗选择作一综述.

The clinical manifestation and outcome of myelodysplastic syndrome（MDS） are highly heterogeneous.It is important to choose personal treatment plan according to risk groups,age,performance status and compliance.The overall response rate of hypomethylaing treatment in MDS is 40%-60%.Hypomethylating agents should be considered for fit patients who have 5% or more bone marrow blasts or who are with adverse cytogenetic characteristics.Platelets count ≥ 100 × 109/L and white blood cell count 〈3.0× 109/L independently predict better response.The treatment of patients with HLA-DR1501 phenotype remains controversial.TET2 mutation,DNMT3A mutation,ASXL1 wild type are independent predictors of better response.This review summaries the current research progress of hypomethylating treatment in MDS on prognostic group,clinical indicators and gene mutation.