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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 characteristics of epidermal growth factor receptor (EGFR) gene mutation and its relationship with clinical features (pathological type, sex, smoking status, clinical stage and differentiation) in patients with primary bronchogenic carcinoma of lung. Methods The mutations of EGFR exons 18, 19, 20 and 21 in 100 consecutive cases of primary bronchogenic carcinoma of lung in our hospital were detected by PCR amplification and gene sequencing. The relationship between the mutations and clinical features was analyzed. Results Of 100 cases, 33 cases (33%, 33/100) of EGFR gene mutation were detected. The mutation rate of non-smoking female adenocarcinoma was 70.97% (22/31). EGFR mutations mainly in exon 19 and 21, EGFR gene mutations and pathological types, gender and smoking history, has nothing to do with the clinical stage, and pathological differentiation seems to be related. Conclusion It is revealed that the characteristics of EGFR gene mutation and the relationship with clinical features may be helpful in recommending potential EGFR mutations in clinical practice for genetic testing and making it possible for mutant patients to benefit from TKI-targeted drugs.