非小细胞肺癌患者EGFR基因突变的临床病理特征

Clinicopathological features associated with EGFR gene mutation in non-small cell lung cancer patients

目的 探讨非小细胞肺癌（NSCLC）患者表皮生长因子受体（EGFR）基因突变的临床病理特征.方法 共入组2010年6月至2013年7月就诊于浙江大学医学院附属第一医院的677例NSCLC患者,均通过焦磷酸测序法检测EGFR基因突变状态.通过突变状态与临床病理资料对比分析,探讨EGFR基因突变状态的相关因素.结果 在677例NSCLC患者中,313例（46.2％）为EGFR基因敏感突变.其中女性、非吸烟、TNM分期Ⅰ a～Ⅲa期、高分化、腺癌患者中EGFR基因突变率分别为60.4％、54.8％、51.1％、81.1％、50.7％,均分别显著高于男性、吸烟、TNM分期Ⅲb～Ⅳ期、中低分化、非腺癌患者的33.3％、32.4％、38.6％、46.1％、15.3％（均P＜0.05）;AB血型患者的突变率为25.0％,均显著低于A、B、O型的49.4％、46.0％、50.0％（均P＜0.05）.EGFR基因突变型患者血清癌胚抗原（CEA）显著高于野生型（114.5比41.8 μg,/L,P=0.038）.结论 NSCLC患者EGFR基因突变在女性、非吸烟、Ⅰa～Ⅲa期、高分化的腺癌患者中更常见.AB血型患者突变率较低.病理类型、分化程度和血型为预计EGFR基因突变的独立因素.

Objective To explore the clinicopathological features associated with epidermal growth factor receptor （EGFR） gene mutation in non-small cell lung cancer （NSCLC） patients.Methods In this series,677 NSCLC patients at lung disease center during Jtme 2010 through July 2013 were included.The EGFR gene type was determined through pyrosequencing assay.The factors associated with EGFR gene mutation were explored by comparing their clinicopathological features.Results Among them,313 （46.2％） patients had mutant EGFR.It happened more frequently in females （60.4％ vs 33.3％）,nonsmoker （54.8％ vs 32.4％）,stages Ⅰ a-Ⅲ a （51.1％ vs 38.6％）,well-differentiated （81.1％ vs 46.1％） and adenocarcinoma （50.7％ vs 15.3％） patients than in males,smoker,stages Ⅲb-Ⅳ,poorly differentiated and non-adenocarcinoma counterparts （all P ＜ 0.05）.However,the mutation rate was lower in patients with AB blood type （25.0％） than those with other blood types （type A 49.4％,type B 46.0％,type O 50.0％） （all P ＜0.05）.The patients with mutant EGFR gene had a higher level of serum carcinoembryonic antigen （CEA） than those with wild-type EGFR gene （114.5 vs 41.8 μg/L,P =0.038）.Conclusions The female,non-smoker,stages Ⅰ a-Ⅲ a,well-differentiated and adenocarcinoma patients of NSCLC have significantly higher incidence of EGFR gene mutation while mutation is rare in those with AB blood type.And pathology,differentiation and blood type are independent factors affecting EGFR mutation.