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目的分析非小细胞肺癌表皮生长因子受体(EGFR)基因突变的不一致性,为EGFR突变的临床检测与药物应用提供参考。方法应用突变扩增阻滞系统(ARMS)法对80例非小细胞肺癌患者的同一病灶不同取样点检测组(34例)、多发结节肺癌组(28例)、原发灶与转移灶组(18例)进行EGFR突变检测,分析不同临床病理特征非小细胞肺癌患者的EGFR突变率及配对组内EGFR基因突变检测结果的不一致性。结果非小细胞肺癌患者EGFR基因总体突变率为55.00%(44/80)。80对配对样本的EGFR突变不一致率为31.25%(25/80),同一病灶不同取样点检测组、多发结节肺癌组、原发灶与转移灶组的EGFR突变不一致率分别为23.53%、50.00%、16.67%。其中19例患者出现一个部位样本为EGFR阳性突变,另一部位为EGFR阴性突变;6例患者出现EGFR变异类型不相同。组织学全为腺癌。其中不吸烟患者占80%(20/25)。结论非小细胞肺癌EGFR基因突变不一致率较高,临床工作中须关注送检组织及检测结果的代表性,为肺癌的精准治疗提供可靠的依据。
Objective To analyze the inconsistency of epidermal growth factor receptor (EGFR) gene mutation in non-small cell lung cancer (NSCLC) and to provide a reference for the clinical detection and drug application of EGFR mutation. Methods A total of 80 non-small cell lung cancer patients (34 cases), multiple nodular lung cancer group (28 cases), primary tumor and metastasis group (18 cases) were detected by EGFR mutation analysis, EGFR mutation rate in patients with different clinical pathological features of non-small cell lung cancer and EGFR gene mutation within the matched group test results inconsistency. Results The overall mutation rate of EGFR gene in non-small cell lung cancer patients was 55.00% (44/80). The inconsistent rate of EGFR mutation in the pairwise matched samples was 31.25% (25/80). The inconsistent rates of EGFR mutation in the same lesion sampling group, multiple nodular lung cancer group, primary tumor and metastasis group were 23.53% and 50.00 %, 16.67%. One of the 19 patients had a positive EGFR mutation and the other had a negative EGFR mutation. The types of EGFR mutations in 6 patients were different. Histology is all adenocarcinoma. Among them, 80% (20/25) of non-smoking patients. Conclusion The inconsistency of EGFR gene mutations in non-small cell lung cancer is high. Clinical work should pay attention to the representativeness of the tested tissues and test results and provide a reliable basis for accurate treatment of lung cancer.