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目的 研究骨髓增生异常综合征(MDS)患者中常见的基因突变,并探讨其对MDS患者造血干细胞移植后总生存期(OS)的影响.方法 选择2013年10月—2018年8月在苏州大学附属第一医院诊断MDS并进行移植的68 例患者,采用二代基因测序检测MDS患者在移植前的骨髓样本的基因突变情况,用统计学方法分析不同基因突变与移植后OS的关系.结果NRAS、TP53、GATA2三个基因突变均与造血干细胞移植后OS相关,这些基因突变患者的OS均比该基因野生型患者短,且差异有统计学意义(P＜0.05).结论 NRAS、TP53、GATA2基因突变可能是MDS患者移植后独立的预后因素,这些基因突变可作为评估移植患者预后的重要指标.“,”Objective To study the common gene mutations in patients with myelodysplastic syndrome (MDS) and to investigate their effects on the overale survival (OS) after hematopoietic stem cell transplantation (HSCT) in MDS patients. Methods A total of 68 patients who were diagnosed as MDS and transplanted in the First Affiliated Hospital of Soochow University from October 2013 to August 2018 were selected, and the genetic mutations in bone marrow samples of these patients before transplantation were detected by second-generation gene sequencing. Results NRAS, TP53 and GATA2 were all related to the OS after HSCT, and the OS of patients with gene mutation was shorter than that of patients with gene wild-type, and the difference was statistically significant. Conclusion NRAS, TP53 and GATA2 genetic mutation may be independent prognostic factors of MDS patients after transplantation. Whether there is such a genetic mutation may be an important indicator to evaluate the survival of transplant patients.