连续100例肺癌术后EGFR基因突变检测结果分析

Analysis on the EGFR Mutation Test Results of 100 Sequential Patients with Primary Bronchogenic Carcinoma

目的探讨原发性支气管肺癌表皮生长因子受体(EGFR)基因突变特点及其与临床特征(病理类型、性别、吸烟情况、临床分期、分化程度)的关系。方法采用PCR扩增和基因测序法检测我院连续100例原发性支气管肺癌EGFR外显子18,19,20和21的突变情况,同时分析其突变与临床特征的关系。结果 100例中检测到EGFR基因突变33例(33%,33/100),其中不吸烟女性腺癌患者突变率达70.97%(22/31)。EGFR突变主要集中在外显子19和21位,EGFR基因突变与病理类型、性别和吸烟史相关,与临床分期无关,与病理分化程度似可见相关性。结论揭示EGFR基因突变特点以及与临床特征的关系有助于在临床中推荐潜在EGFR突变患者进行基因检测,使突变患者有可能在TKI靶向药物中获益。

Objective To investigate the gene mutation characteristics of epidermal growth factor receptor（EGFR） and its relationship with clinical features（pathological pattern,gender, smoking history, clinical stage, differentiation） in primary bronchogenic carcinoma. Methods We tested mutation of EGFR exon 18, 19, 20 and 21 with PCR amplification and gene sequencing in 100 sequential patients who had been diagnosed with primary bronchogenic carcinoma in Hunan Cancer Hospital,and then analyzed the relationship between EGFR mutation status and clinical features. Results Our study showed 33 occurred EGFR mutation in 100 subjects（33%, 33/100）, including 70.97% non-smoking female adenocarcinoma patients. EGFR mutational sites mainly exist in exon 19 and 21. EGFR mutation is related to pathological patterns, gender, smoking history, but has no relationship to clinical stages. It seems like having some correlation between mutation status and degree of pathological differentiation. Conclusions Revealing EGFR gene mutation characteristics and relationship with clinical features could help to advise potential EGFR mutation patients who would probably gain benefit from TKI.