非小细胞肺癌的突变基因检测及其临床病理特征

Mutation genes detection and clinicopathological characteristics of non-small cell lung cancer

目的检测10种肺癌常见基因在非小细胞肺癌(NSCLC)中的突变,探讨表皮生长因子受体(EGFR)基因在NSCLC患者中突变及其与临床病理之间的关系。方法回顾性分析2016年1月-2020年10月在本院经病理确诊为NSCLC的354例患者的临床病理资料。所有患者均进行了KRAS、APC、BRAF、EGFR、ALK、ERBB2、PIK3CA、ROS1、RET及MET等10种常见肺癌基因突变检测;对EGFR基因突变与患者的临床病理基本特征之间的关系进行统计学分析。结果 354例NSCLC患者中有213例发生EGFR基因突变(60.17%),其次是KRAS基因突变(17例,6.21%)及ALK与RET基因突变均为12例(3.39%)。NSCLC患者中EGFR基因最常见是3种突变分别是Leu858Arg、Glu746_Ala750del和Glu746_Ala750del/Thr790Met及Leu747_Pro753delinsSer突变。EGFR基因突变与性别、组织学类型、饮酒史及吸烟史有关(P <0.001)。多因素Logistic回归分析显示,有吸烟史的患者EGFR基因突变率更高(OR=2.110,95%CI:1.126~5.353,P <0.001)。结论 EGFR是NSCLC中最常见的突变基因;吸烟史最可能影响EGFR基因突变,NSCLC患者应常规检测EGFR基因以指导个体化治疗。

Objective To detect of mutations in 10 common lung cancer genes in non-small cell lung cancer( NSCLC),and to explore the mutations of epidermal growth factor receptor( EGFR) genes in patients with NSCLC and their relationships with clinicopathological characteristics. Methods The clinical and pathological data of 354 patients with pathologically confirmed NSCLC from January 2016 to October 2020 were retrospectively analyzed. All patients were tested for mutations in 10 common lung cancer genes including KRAS,APC,BRAF,EGFR,ALK,ERBB2,PIK3 CA,ROS1,RET and MET. Statistical analysis was used to evaluate the relationship between EGFR gene mutations and basic clinicopathological characteristics of NSCLCL patients. Results EGFR gene mutations were detected in 213 of 354 NSCLC patients( 60. 17%),followed by KRAS gene mutations( 17 cases,6. 21%) as well as ALK and RET gene mutation( 12 cases,3. 39%). The three most common EGFR mutations in NSCLC patients were Leu858 Arg, Glu746_Ala750 del, Glu746_Ala750 del/Thr790 Met and Leu747_Pro753 delinsSer mutations. The gene mutation of EGFR was correlated with sex,histological type,drinking history and smoking history,and the differences were statistically significant( P < 0. 001). Multivariate Logistic regression analysis showed that the mutation rate of EGFR gene was higher in patients with smoking history( OR = 2. 110,95% CI: 1. 126-5. 353,P < 0. 001).Conclusion EGFR gene was the most common mutations in NSCLC;EGFR mutations are most likely to occur in patients with smoking history,which should be routinely detected for personalized treatment.