摘要
Abstract
Objective To compare Sanger sequencing and amplification refractory mutation system (ARMS) assay in detection of EGFR gene 19 and 21 exons mutations in non-small cell lung cancer (NSCLC).Methods One hundred and two NSCLC specimens,including 75 paraffin tissue samples and 27 biopsy specimens were collected.Mutations of EGFR gene 19 and 21 exons were detected by Sanger sequencing and ARMS assay.The association of gene mutations with clinicopathological features of NSCLC was analyzed.Results The mutation rates of ARMS assay and Sanger sequencing were 48.0％ (49/102) and 32.3％(31/96),respectively (P＜0.05).In biopsy tissue samples,the mutation rate detected by ARMS (57.1％,12/21) was significantly higher than that by Sanger sequencing (23.8％,5/21,P＜0.05),however,there was no significant difference in mutation rate of paraffin embedded specimens between two methods (49.3％,37/75 vs 34.7％,26/75,P ＞0.05).According to ARMS results,the EGFR mutation rate was higer in female patients (68.0％) than in male patients(28.8％),in non-smoking patients (65.5％) higher than that in smoking patients(27.7％),in adenocarcinomas (62.3％) higher than that in squamous cell carcinomas (26.8％) (all P＜0.05).The EGFR mutation rate was not correlated with the age and lymphatic metastasis of patients(all P ＞0.05).Conclusion The mutation rates of EGFR 19 and 21 exons were higher in NSCLC patients,especially in non-smoking,female and adenocarinoma patients.Sanger sequencing method has more advantages for large tissue samples,and the ARMS method is more suitable for biopsy and small samples.Therefore,the combination of two methods may provide more reliable and comprehensive test results.关键词
非小细胞肺癌/表皮生长因子受体/基因突变/外显子/Sanger测序/ARMS法Key words
Non-small lung cancer/Epidermal growth receptor/Gene mutation/Exon/Sanger sequencing/Amplification refractory mutation system assay
