181例肺腺癌的多基因检测分析  

Analysis of polygenes detection in 181 cases of lung adenocarcinoma

作　　者：李婷[1] 范维[1] 汪靖婷 甘甜 龙云 陈梦凡 董鑫扬 廖美焱[1] LI Ting;FAN Wei;WANG Jingting;GAN Tian;LONG Yun;CHEN Mengfan;DONG Xinyang;LIAO Meiyan(Dept.of Radiology,Zhongnan Hospital of Wuhan University,Wuhan 430071,Hubei,China)

机构地区：[1]武汉大学中南医院医学影像科,湖北武汉430071

出　　处：《武汉大学学报（医学版）》2023年第7期824-828,852,共6页Medical Journal of Wuhan University

基　　金：湖北省卫生计生委2019年联合基金(编号:WJ2019H066)。

摘　　要：目的:报道肺腺癌病例多基因检测的结果,分析肺腺癌驱动基因突变状态的相关因素。方法:回顾性总结武汉大学中南医院2017年1月至2021年7月肺腺癌检测EGFR、ALK、KRAS、HRAS、NRAS、PIK3CA、BRAF、PTEN、AKT1、HER2、ROS1、RET等12个驱动基因突变的病例资料,探讨肺腺癌驱动基因突变状态的相关因素。结果:181例肺腺癌病例纳入研究,94例为穿刺活检标本,87例手术切除标本。81.21%(147/181)的病例存在驱动基因突变,3个主要突变是EGFR(60.8%,110/181)、KRAS(16.6%,30/181)、NRAS(2.2%,4/181)。6例多基因突变,EGFR/NRAS、EGFR/KRAS、EGFR/PIK3CA、HER2/NRAS、HER2/PTEN和EGFR/KRAS/NRAS各1例。EGFR突变与女性(P<0.001)和非吸烟(P<0.001)相关,最常见的突变位点是Exon 19⁃del和Exon 21 L858R;KRAS突变与男性(P<0.001)和吸烟(P<0.001)相关,最常见的突变位点是Exon 2 G12C和Exon 2 G12V。穿刺标本与手术标本驱动基因突变阳性率无显著性差异(P>0.05),早期(Ⅰ+Ⅱ)和晚期(Ⅲ+Ⅳ)肺腺癌基因突变阳性率无显著性差异(P>0.05)。结论:EGFR、KRAS基因突变状态与性别、吸烟状态相关,经皮肺穿刺活检与手术切除标本基因突变率无差异,早期和晚期肺腺癌基因突变率无差异。Objective:To report the results of Asian polygene detection of lung adenocarcinoma and to ana⁃lyze the related factors of driving gene mutation in lung adenocarcinoma.Methods:The clinical data of 12 driving gene mutations of EGFR,ALK,KRAS,HRAS,NRAS,PIK3CA,BRAF,PTEN,AKT1,HER2,ROS1 and RET in lung adenocarcinoma from January 2017 to July 2021 were retro⁃spectively analyzed to explore the related factors of driving gene mutation in lung adenocarcinoma.Results:181 cases of lung adenocarcinoma were included in the study,including 94 puncture biopsy cases and 87 surgical cases.81.21%(147/181)of the cases have the driving gene mutations,the three main mutations were EGFR(60.8%,110/181),KRAS(16.6%,30/181),and NRAS(2.2%,4/181).There were 6 polygenic mutations,including EGFR/NRAS,EGFR/KRAS,EGFR/PIK3CA,HER2/NRAS,HER2/PTEN and EGFR/KRAS/NRAS.EGFR mutation was associated with female(P<0.001)and non⁃smoking(P<0.001).The most common mutation sites were Exon 19⁃del and Exon 21 L858R;KRAS mutation associated with male(P<0.001)and smoking(P<0.001).The most common mutation sites were Exon 2 G12A and Exon 2 G12V.There was no significant difference in the positive rate of driving gene mutation between puncture and surgical speci⁃mens(P>0.05),and there was no significant difference in the positive rate of lung adenocarcinoma gene mutation between early stage(Ⅰ+Ⅱ)cases and late stage(Ⅲ+Ⅳ)cases(P>0.05).Conclusion:EGFR and KRAS gene mutation status is significantly correlated with gender and smok⁃ing.There is no difference in gene mutation rate between percutaneous lung biopsy and surgical biop⁃sy cases,and there is no difference in gene mutation rate between early and late stage of lung adenocar⁃cinoma cases.

关 键 词：肺腺癌 穿刺 活检 驱动基因 

分 类 号：R734.2[医药卫生—肿瘤]