骨髓增生异常综合征患者基因突变的临床研究  

Clinical study of gene mutations in patients with myelodysplastic syndromes

作　　者：贺少龙[1] 马梁明[1] 安晋婷 He Shaolong;Ma Liangming;An Jinting(Department of Hematology,Shanxi Bethune Hospital,Shanxi Academy of Medical Sciences,Taiyuan 030032,China)

机构地区：[1]山西医学科学院山西白求恩医院血液科,太原030032

出　　处：《白血病．淋巴瘤》2020年第7期394-398,共5页Journal of Leukemia & Lymphoma

基　　金：山西省科技成果转化引导专项(201604D131005)。

摘　　要：目的探讨骨髓增生异常综合征(MDS)患者基因突变的特点及其在预后评估、疗效预测中的价值。方法回顾性分析2017年1月至2019年12月山西白求恩医院110例初发MDS患者临床资料,采用第二代基因测序技术对45种MDS相关基因进行突变检测,分析比较基因突变阳性组和阴性组患者的临床特征、实验室检查结果、修订的国际预后积分系统(IPSS-R)积分及对地西他滨治疗的反应。结果110例MDS患者中,至少有1种基因突变的患者比例为83.6%(92/110)。共检测出38种基因突变,最常见的ASXL1、TET2、TP53、SF3B1突变发生率分别为19.1%(21/110)、17.3%(19/110)、15.5%(17/110)、12.7%(14/110)。基因突变个数越多的MDS患者IPSS-R积分越高(F=44.493,P<0.01)。SF3B1基因突变组的IPSS-R积分低于非突变组[(3.50±1.52)分比(4.76±1.58)分,t=-2.802,P=0.006],U2AF1基因突变组IPSS-R积分高于非突变组[(5.78±1.39)分比(4.50±1.60)分,t=2.320,P=0.022],TP53基因突变组IPSS-R积分高于非突变组[(5.71±2.24)分比(4.40±1.41)分,t=2.329,P=0.031],其余所测基因突变组与非突变组IPSS-R积分差异均无统计学意义(均P>0.05)。TP53基因突变组MDS患者对地西他滨治疗总体反应率高于非突变组[83.3%(10/12)比43.1%(22/51),χ^2=6.280,P=0.012],而且完全缓解率更高[50.0%(6/12)比19.6%(10/51),χ^2=4.736,P=0.030]。结论MDS患者普遍存在基因突变,伴SF3B1突变患者预后良好,而伴U2AF1、TP53突变者预后差,伴TP53突变患者对地西他滨治疗反应率高。Objective To explore the characteristics of gene mutations in patients with myelodysplastic syndromes(MDS)and the values of these mutations in prognosis assessment and curative effect prediction.Methods The clinical data of 110 patients with newly diagnosed MDS who were admitted to Shanxi Bethune Hospital from January 2017 to December 2019 were retrospectively analyzed.The next-generation sequencing technology was used to detect mutations of 45 MDS-related genes.The patients'clinical features,results of laboratory tests,revised International Prognostic Points System(IPSS-R)scores and therapeutic responses to decitabine were analyzed and compared between the gene mutation and non-mutation groups.Results Among 110 patients with MDS,83.6%(92/110)of patients harbored at least one mutation.Thirty-eight gene mutations were detected,and the mutation rates of the most common mutations of ASXL1,TET2,TP53,and SF3B1 were 19.1%(21/110),17.3%(19/110),15.5%(17/110),and 12.7%(14/110).The IPSS-R scores of MDS patients with more mutations were higher(F=44.493,P<0.01).The IPSS-R score of the SF3B1 mutation group was lower than that of the SF3B1 non-mutation group[(3.50±1.52)points vs.(4.76±1.58)points,t=-2.802,P=0.006],and the IPSS-R score of the U2AF1 mutation group was higher than that of the U2AF1 non-mutation group[(5.78±1.39)points vs.(4.50±1.60)points,t=2.320,P=0.022],and the IPSS-R score of the TP53 mutation group was higher than that of the TP53 non-mutation group[(5.71±2.24)points vs.(4.40±1.41)points,t=2.329,P=0.031].There was no significant difference in IPSS-R scores between patients with and without other mutations(all P>0.05).The overall response rate to decitabine in the TP53 mutation group was higher than that in the TP53 non-mutation group[83.3%(10/12)vs.43.1%(22/51),χ^2=6.280,P=0.012],and the TP53 mutation group had a higher complete remission rate[50.0%(6/12)vs.19.6%(10/51),χ^2=4.736,P=0.030].Conclusions Genetic mutations are common in MDS patients.Patients with SF3B1 mutation have a good prognosis,while

关 键 词：骨髓增生异常综合征 突变 预后评估 

分 类 号：R551.3[医药卫生—血液循环系统疾病]