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To investigate the characteristics of gene mutations in patients with myelodysplastic syndromes (MDS) and its prognostic significance.High-throughput sequencing was used to detect 34 blood tumor-related genes in 210 patients with MDS, and the relationship with the revised International Prognostic Scoring System (IPSS-R) and the impact on prognosis of the patients were analyzed.Among the 210 MDS patients, 142 cases (67.6%) showed mutations, and the first six genes with the highest mutation detection rate were ASXL1(20.5%), TET2(17.1%), U2AF1(14.3%), DNMT3A (11.9%), TP53(10.5%) and RUNX1(10.0%). The gene mutation rate of the patients in IPSS-R relatively high-risk group was higher than those in relatively low-risk group (P=0.001). Both TP53 and BCOR genes showed higher mutation rates in the higher risk group than in the lower risk group (P0.05). Survival time of the patients in TP53 mutant group was lower than those in non-mutant group (P0.001), survival time of patients in SF3B1 mutant group was higher than those in non-mutant group (P=0.018). According to the number of gene mutations, the patients could be divided into groups with 0-1, 2 and ≥3 gene mutations, and the median OS of the three groups were not reached, 43 and 27 months, respectively (P=0.004). The Multivariate analysis showed that the increasing number of gene mutations and TP53 mutation was the independent risk factors affecting prognosis of the patients, while SF3B1 mutation was the independent protective factor for the prognosis of the patients.The gene mutation rate was higher in MDS patients. And the increasing numbers of gene mutation, TP53 and SF3B1 were the influence factors of prognosis in the patients.骨髓增生异常综合征患者基因突变特点及临床意义.探讨骨髓增生异常综合征（MDS）患者基因突变特点及对预后的影响.采用高通量测序靶向检测210例MDS患者的34种血液肿瘤相关基因，分析其与修订的国际预后积分系统（IPSS-R）的关系和对患者预后的影响.210例MDS患者中，142例(67.6％)发生了基因突变，突变频率较高的前6位基因依次为ASXL1(20.5％)、TET2(17.1％)、U2AF1(14.3％)、DNMT3A(11.9％)、TP53(10.5％)和RUNX1(10.0%）。IPSS-R较高危组患者的基因突变率高于IPSS-R较低危组（P=0.001）。TP53和BCOR基因在较高危组中的突变率均高于较低危组（均P＜0.05）。TP53突变组患者生存时间显著短于未突变组(P＜0.001)；SF3B1突变组生存时间显著长于未突变组(P=0.018)。依据基因突变数目，可分为伴有0-1个、2个和≥3个基因突变组，三组的中位OS分别为未达到、43个月和27个月（P=0.04）。多因素分析显示，递增的基因突变个数和TP53突变是影响患者预后的不良因素，SF3B1突变则是独立的保护因素.MDS患者基因突变率较高，且递增的基因突变数目、TP53和SF3B1是影响患者预后的因素. |
