Zhao Fang, Wang Kai-Li, Qin Yu-Ting, Nilupar Tuerxun, Patiguli Abulizi, Jiang Ming, Hao Jian-Ping
Hematologic Disease Center, The First Affiliated Hospital of Xinjiang Medical University; Xinjiang Uygur Autonomous Region Research Institute of Hematology, Urumqi 830061, Xinjiang Uygur Autonomous Region, China.
Hematologic Disease Center, The First Affiliated Hospital of Xinjiang Medical University; Xinjiang Uygur Autonomous Region Research Institute of Hematology, Urumqi 830061, Xinjiang Uygur Autonomous Region, China,E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Dec;29(6):1864-1868. doi: 10.19746/j.cnki.issn.1009-2137.2021.06.029.
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 (P<0.05). Survival time of the patients in TP53 mutant group was lower than those in non-mutant group (P<0.001), 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.
探讨骨髓增生异常综合征（MDS）患者基因突变特征及其预后意义。
采用高通量测序技术检测210例MDS患者34个血液肿瘤相关基因，并分析其与修订的国际预后评分系统（IPSS-R）的关系及对患者预后的影响。
210例MDS患者中，142例（67.6%）存在基因突变，突变检出率最高的前六个基因分别为ASXL1（20.5%）、TET2（17.1%）、U2AF1（14.3%）、DNMT3A（11.9%）、TP53（10.5%）和RUNX1（10.0%）。IPSS-R相对高危组患者的基因突变率高于相对低危组（P=0.001）。TP53和BCOR基因在高危组的突变率均高于低危组（P<0.05）。TP53突变组患者的生存时间低于非突变组（P<0.001），SF3B1突变组患者的生存时间高于非突变组（P=0.018）。根据基因突变数量，患者可分为0-1个、2个和≥3个基因突变组，三组患者的中位总生存期分别未达到、43个月和27个月（P=0.004）。多因素分析显示，基因突变数量增加和TP53突变是影响患者预后的独立危险因素，而SF3B1突变是患者预后的独立保护因素。
MDS患者基因突变率较高。基因突变数量增加、TP53和SF3B1是影响患者预后的因素。
