老年骨髓增生异常综合征患者基因突变特点分析  

Analysis of gene mutation in elderly patients with myelodysplastic syndrome

作　　者：张晓华 王亚楠[1] 赵芳[1] 尼罗帕尔·吐尔逊[1] 秦玉婷[1] 王欢[1] 江明[1] 郝建萍[1] ZHANG Xiaohua;WANG Yanan;ZHAO Fang;Niluopaer Tuerxun;QIN Yuting;WANG Huan;JIANG Ming;HAO Jianping(Hematologic Disease Center,the First Affiliated Hospital of Xinjiang Medical University,Xinjiang Uygur Autonomous Region Research Institute of Hematology,Urumqi 830061,China)

机构地区：[1]新疆医科大学第一附属医院血液病中心,新疆血液病研究所,乌鲁木齐830061

出　　处：《新疆医科大学学报》2023年第5期607-611,共5页Journal of Xinjiang Medical University

基　　金：国家自然科学基金地区基金项目(82260032)。

摘　　要：目的分析老年骨髓增生异常综合征(MDS)患者基因突变特点。方法利用高通量测序技术对283例MDS患者进行74种髓系靶基因突变检测,将患者分为老年组(年龄≥65岁)和非老年组(年龄<65岁),比较老年患者基因突变特点及其对预后的影响。结果102例老年组患者中,81.3%的患者发生了基因突变,其中1、2和≥3个基因突变的检出率分别为23.5%、19.6%和38.2%,突变检出率较高的基因为TET2、ASXL1、TP53、SF3B1、BCOR和DNMT3A。与非老年组相比,老年组患者有着更高的基因突变检出率,其中≥3个基因突变的检出率明显增高(P<0.05),且表观调节相关基因突变的检出率高(P=0.001)。两组中合并TP53基因突变患者的中位生存时间均短于未突变者(P=0.045;P<0.001),老年组中合并SF3B1突变者与未突变者的中位生存期无明显差异(P>0.05),非老年组中合并SF3B1基因突变患者的中位生存时间长于未突变者(P=0.014)。老年组患者随着基因突变数目的增多,中位生存时间明显缩短(P=0.014)。结论老年MDS患者基因突变检出率较高,随着突变数目的增多,患者的生存时间明显缩短。Objective To analyze the characteristics of gene mutations in elderly patients with myelodysplastic syndrome(MDS).Methods High-throughput sequencing was used to detect 74 myeloid target gene mutations in 283 MDS patients,and the patients were divided into elderly group(age≥65 years)and non-elderly group(age<65 years).To compare the characteristics of gene mutationsand their effects on prognosis in elderly patients.Results Among the 102 elderly patients,81.3%had gene mutations,and the detection rates of 1,2 and≥3 gene mutations were 23.5%,19.6%and 38.2%,respectively.The genes with higher mutations detection rate were TET2,ASXL1,TP53,SF3B1,BCOR and DNMT3A.Compared with non-elderly group,the elderly group had a higher gene mutations detection rate,and the incidence of≥3 gene mutations detection rates weresignificantly increased(P<0.05),and the dection rate of epistasis-regulation-rela gene was higher(P=0.001).The median survival time of the patients with TP53 mutation in both groups was shorter than that of the unmutated group(P=0.045;P<0.001).There was no significant difference in median survival between those with SF3B1 mutation and those without mutation in elderly group(P>0.05),and the median survival time of thepatients with SF3B1 mutation in non-elderly group was longer than that in unmutated group(P=0.014).With the increasing of the number of gene mutations,the median survival time of the patients in elderly group was significantly shortened(P=0.014).Conclusion The detection rate of gene mutation in elderly MDS patientis higher,and the survival time of the patientis significantly shortened with the increasing of the number of gene mutations.

关 键 词：骨髓增生异常综合征 二代测序 基因突变 

分 类 号：R965[医药卫生—药理学]