骨髓增生异常综合征(myelodysplastic syndromes,MDS)是常见的髓系恶性肿瘤,由于其临床预后异质性很大,因此逐渐形成了基于不同预后风险组的分层治疗,而对于MDS预后风险的评估,目前很大部分是基于细胞遗传学特征进行的。临床发现,大部分MDS患者核型由于缺乏特征性结构改变和易位而显示正常,但实际上通过分子遗传学研究可以进一步检测到其存在如SF3B1、DNMT3A、U2AF1/2、ASXL1、TP53等基因突变,这部分患者 Myelodysplastic syndromes (MDSs) are common myeloid malignancies. Due to their high heterogeneity in clinical prognosis, stratified treatment based on different prognosis risk groups evolves gradually, and the assessment of the prognosis of MDS , At present largely based on cytogenetic characteristics. Clinically, the majority of patients with MDS karyotype due to the lack of structural changes and translocation and showed normal, but in fact by molecular genetic studies can further detect the existence of such as SF3B1, DNMT3A, U2AF1 / 2, ASXL1, TP53 and other genes Mutation, this part of the patient