肺腺癌EGFR与KRAS基因突变状态分析

Detection and Analysis of EGFR and KRAS Mutation with Lung Adenocarcinoma

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％），KRAS基因突变29例（7．8％），EGFR和KRAS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％w37．1％，61．9％w30．3％），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KRAS基因的突变情况。

Background and objective Mutations in epidermal growth factor receptor （EGFR） and KRAS are important markers in non-small cell lung cancer, which are closely related to the clinical therapeutic effect. To analysis the EGFR and KRAS gone mulatiou rate and its relationship with clinical features in patients with lung adenocarcinoma. Methods 395 patients with treatment naive lung adenocarcinoma, tumor tissue samples were available for testing. Tumor sample EGFR and KRAS mutation status were detected using mutant enriched liquidchip. Results 395 cases of lung adenocareinoma, EGFR mutations were detected in 192 cases （48.9%）, KRAS mutations were detected in 29 cases （7.8%）, and the presence of EGFR and KRAS mutation were detected in 1 case （0.3%）. EGFR mutations were found to occur significantly more often 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 significant differences were observed in age, stage and different biopsy type. KRAS mutations were not found to have statistical significance （P〉0.05） in each clinical factors, only occurred in the wild type EGFR gene in patients （13.5%, 27/200） was significantly higher than that of patients with EGFR mutation （1.0%, 2/192）, the difference was statistically significant （P〈0.001）. Conclusion In lung adenocareinomas, EGFR mutation was higher in female and non-smoking patients, KRAS mutation only in patients with wild-type EGFR gane was higher. Before using TKI targeted therapy, EGFR and KRAS mutations should be detected.