伴随基因突变/扩增在肺癌患者中的变化及其临床意义  

Changes and clinical significance of concomitant gene mutation/amplification in patients with lung cancer

作　　者：潘雪[1] 高春峰 邢玉斐[1] 钟安媛 周童[1] 张增利[1] 施敏骅[1] PAN Xue;GAO Chunfeng;XING Yufei;ZHONG Anyuan;ZHOU Tong;ZHANG Zengli;SHI Minhua(Department of Respiratory and Critical Care Medicine,the Second Affiliated Hospital of Soochow University,Suzhou 215004,China)

机构地区：[1]苏州大学附属第二医院呼吸与危重症医学科,江苏苏州215004

出　　处：《南京医科大学学报（自然科学版）》2022年第9期1246-1252,共7页Journal of Nanjing Medical University(Natural Sciences)

基　　金：苏州市科技计划项目(SLT201930);苏州大学附属第二医院优势学科托举项目(XKTJ-XK202007)。

摘　　要：目的:探索肺癌患者伴随基因突变/扩增频数的变化,并分析其临床意义。方法:回顾性分析苏州大学附属第二医院2015年12月—2020年7月经新一代基因测序(next-generation sequencing technology,NGS)检测的71例共132份肺癌患者标本基因检测数据(其中包括血液标本67份、肿瘤组织48份、胸腔积液15份、脑脊液2份),采用GraphPad Prism7.0统计分析不同临床标本伴随基因的突变/扩增状态。结果:所有检测标本除表皮生长因子受体(epidermal growth factor receptor,EGFR)突变之外,另可检测到前5位突变/扩增基因分别为肿瘤蛋白p53(tumor suppressor protein p53,TP53)、鼠类肉瘤病毒癌基因(Kirsten rat sarcoma viral oncogene,KRAS)、表皮生长因子受体2(human epithelial growth factor receptor 2,ERBB2)、视网膜母细胞瘤基因1(retinoblastoma 1,RB1)、肝细胞生长因子酪氨酸激酶受体(hepatocyte growth factor receptor,MET)。初诊肺癌患者血液标本共入组50例,EGFR突变阳性率34%(17/50),除EGFR突变之外,所检测标本还可检测到79种基因突变/扩增,所有标本共出现123次伴随基因突变/扩增,平均2.46次/例,血液标本伴随基因突变/扩增频数与患者临床分期、吸烟、年龄、性别、病理类型均无关(均P>0.05)。初诊肺癌患者肿瘤组织共入组46例,EGFR突变阳性率50%(23/46),除EGFR突变之外,所检测标本还可检测到160种基因突变/扩增,所有标本共出现285次伴随基因突变/扩增,平均6.20次/例,肿瘤组织伴随基因突变/扩增频数与患者临床分期、年龄均无关(均P>0.05),与吸烟、性别、病理类型均有关(U=74.000,P<0.001;U=130.5,P=0.003;F=8.968,P=0.011)。亚组分析发现,血液标本及肿瘤组织中TP53是否突变对患者生存率影响差异无统计学意义(血液标本:χ^(2)=0.321,P=0.571;肿瘤组织:χ^(2)=0.309,P=0.579)。对同时进行肿瘤组织和血液标本配对检测的患者,初诊肿瘤组织伴随基因突变/扩增频数[3(1,8)]高于同一�Objective:This study aims to observe the changes of the concomitant gene mutation/amplification in patients with lung cancer based on next generation sequencing(NGS)technology and analyze its clinical significance.Methods:Retrospective analysis was performed on 71 lung cancer patients(132 samples)detected by NGS technology in the Second Affiliated Hospital of Soochow University from December 2015 to July 2020,including 67 blood samples,48 tumor tissues,15 pleural effusion and 2 cerebrospinal fluid.GraphPad prism7.0 statistical software was used for statistical analysis of concomitant gene mutation/amplification in different clinical samples.Results:In addition to EGFR mutation,mutations/amplification of the first 5 genes were:tumor suppressor protein p53(TP53),Kirsten rat sarcoma viral oncogene(KRAS),human epithelial growth factor receptor 2(ERBB2),retinoblastoma1(RB1)and hepatocyte growth factor receptor(MET).A total of 50 newly diagnosed patients’blood samples were detected by NGS technology.The results showed that EGFR positive rate was 34%(17/50).Except EGFR mutation,there were 79 kinds of gene mutations/amplifications detected,with an average of 2.46 times/example,but without statistical difference in concomitant gene mutation/amplification among clinical stage,smoking status,age,gender and pathological classification groups in blood samples.A total of 46 newly diagnosed patients’tissue samples were detected by NGS technology,of which EGFR positive rate was 50%(23/46).Except EGFR mutation,there were 160 kinds of gene mutations/amplifications detected,with an average of 6.20 times/example.There was no statistical difference in concomitant gene mutation/amplification between clinical stage and age groups in tissue samples(P>0.05).But in terms of smoking status,gender and pathological classification groups,there were statistically differences(U=74.000,P<0.001;U=130.5,P=0.003;F=8.968,P=0.011).At the same time,TP53 mutation or not had no statistical significance on survival rate(the blood group:χ^(2)=0.321,P

关 键 词：肺肿瘤 基因检测 基因扩增 突变 

分 类 号：R734.2[医药卫生—肿瘤]