骨髓增生异常综合征患者基因突变特征分析  

Analysis of characteristics of gene mutation in patients with Myelodysplastic Syndrome

作　　者：尼罗帕尔·吐尔逊[1,2] 张小寒 赵芳 秦玉婷[1,2] 帕提古力·阿不力孜 江明[1,2] 郝建萍 Niluopaer Tuerxun;ZHANG XiaoHan;ZHAO Fang;QIN Yuting;Patiguli Abulizi;JIANG Ming;HAO Jianping(The First Affiliated Hospital of Xinjiang Medical University,Urumqi 830054,China;Xinjiang Uygur Autonomous Region Institute of Hematology,Urumqi 830054,China)

机构地区：[1]新疆医科大学第一附属医院,乌鲁木齐830054 [2]新疆维吾尔自治区血液病研究所,乌鲁木齐830054

出　　处：《新疆医学》2021年第9期981-984,共4页Xinjiang Medical Journal

基　　金：国家自然科学基金地区基金(项目编号:8156010035)。

摘　　要：目的探讨骨髓增生异常综合征(MDS)患者基因突变与临床特征和对预后的影响。方法收集新疆医科大学第一附属医院2017年1月至2020年12月就诊的MDS患者210例,采用二代测序技术检测MDS相关的34种突变基因,分析基因突变特点,及与临床特征和修订的国际预后积分系统(IPSS-R)的关系,以及对预后的影响。结果210例MDS患者中共有142例(67.6%)发生突变,突变频率大于10%基因有ASXL1(20.5%)、TET2(17.1%)、U2AF1(14.3%)、DNMT3A(11.9%)、TP53(10.5%)和RUNX1(10.0%)。与非突变组相比,突变组患者的骨髓原始细胞比例明显增高,不同亚型的基因突变存在明显差异,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基因在较高危组中的突变率均高于较低危组(P<0.05)。TP53突变组生存时间明显低于未突变组(P<0.001)。结论MDS患者存在较高的基因突变,TP53突变是MDS患者的预后不良因素。Objective To investigate the clinical characteristics of gene mutations in patients with myelodysplastic syndromes(MDS)and the prognostic significance.Methods 210 cases of patients with MDS treated in the first affiliated hospital of Xinjiang medical university hospital from January 2017 to December 2020 were collected,34 mutant genes related to MDS were detected by next-generation sequencing technology.The characteristics of gene mutation,its relationship with clinical characteristics and the revised international prognostic scoring system(IPSS-R),and the impact on prognosis were analyzed.Results Among the 210 MDS patients,142 cases(67.6%)had mutations,and genes with mutation frequencies greater than 10%were ASXL1(20.5%),TET2(17.1%),U2AF1(14.3%),DNMT3A(11.9%),TP53(10.5%),and RUNX1(10.0%).Compared with non-mutant groups,the proportion of bone marrow original cells in mutant groups increased significantly,and there were significant differences in gene mutations among different subtypes.The gene mutation rate in IPSS-R relatively high-risk group patients was higher than that in IPSS-R relatively low-risk group(P=0.001).The mutations rates of TP53 gene in relatively high-risk group patients was higher than the relatively low-risk group(P<0.05).Survival time of TP53 mutant group was lower than that of non-mutant group(P<0.001).Conclusion There are high gene mutations in MDS patients,and TP53 mutation is a poor prognostic factor in MDS patients.

关 键 词：骨髓增生异常综合征 二代测序 基因突变 

分 类 号：R551.3[医药卫生—血液循环系统疾病]