肺腺癌EGFR与KRAS基因突变状态分析

摘要

背景与目的表皮生长因子受体（epidermal growth factor receptor,EGFR）突变和KRAS基因突变是非小细胞肺癌（non-small cell lung cancer, NSCLC）靶向治疗的重要分子标志，与临床治疗疗效密切相关。分析肺腺癌EGFR和KRAS基因突变与临床特征的关系。方法收集初治肺腺癌患者395例，有可供检测的肿瘤组织标本。利用突变富集液相芯片法进行EGFR和KRAS基因突变检测。结果395例肺腺癌中，EGFR基因突变192例（48.9%），KARS基因突变29例（7.8%），EGFR和KARS基因同时发生突变1例（0.3%）。女性和不吸烟患者EGFR基因突变率高于男性和吸烟患者（62.0%vs 37.1%,61.9%vs 30.3%），差异具有统计学意义（P<0.001, P<0.001）；不同年龄、分期及病理取材标本之间差异均无统计学意义（P>0.05）。KRAS基因突变在EGFR基因野生型患者中发生率（13.5%,27/200）明显高于EGFR基因突变患者（1.0%,2/192），差异具有统计学意义（P<0.001）。结论肺腺癌EGFR基因突变在女性和不吸烟患者中较高，KRAS基因突变只在EGFR基因野生型患者中较高。在使用TKI靶向治疗药物之前，应同时检测EGFR基因和KARS基因的突变情况。%Background and objectiveMutations in epidermal growth factor receptor (EGFR) andKARS are im-portant markers in non-small cell lung cancer, which are closely related to the clinical therapeutic effect. To analysis theEGFR andKARS gene mutation rate and its relationship with clinical features in patients with lung adenocarcinoma.Methods395 patients with treatment naïve lung adenocarcinoma, tumor tissue samples were available for testing. Tumor sampleEGFR and KARS mutation status were detected using mutant enriched liquidchip.Results 395 cases of lung adenocarcinoma,EGFR mutations were detected in 192 cases (48.9%),KARS mutations were detected in 29 cases (7.8%), and the presence ofEGFR andKARS mutation were detected in 1 case (0.3%).EGFR mutations were found to occur signiifcantly more otfen in female than in male patients (62.0%vs 37.1%,P<0.001) and in never smokers than in smokers (61.9%vs 30.3%,P<0.001), no sig-niifcant differences were observed in age, stage and different biopsy type.KARS mutations were not found to have statistical signiifcance (P>0.05) in each clinical factors, only occurred in the wild typeEGFR gene in patients (13.5%, 27/200) was sig-niifcantly higher than that of patients withEGFR mutation (1.0%, 2/192), the difference was statistically signiifcant (P<0.001). ConclusionIn lung adenocarcinomas,EGFR mutation was higher in female and non-smoking patients,KARS mutation only in patients with wild-typeEGFR gene was higher. Before using TKI targeted therapy,EGFR andKARS mutations should be detected.