Abstract:Objective:To analyze the relationship between epidermal growth factor receptor(EGFR) gene,EML4-ALK fusion gene and clinical features in patients with non-small cell lung cancer(NSCLC). Methods:Mutations of exons 19 and 21 of EGFR in 252 NSCLCs were detected by PCR amplification and gene sequencing, EML4-ALK fusion gene mutations were detected by Real-time PCR. The relationships between mutations and clinical features of NSCLCs were analyzed by SPSS software. Results:The total mutation rate of EGFR gene was 38.8%, including 15.8% of exon 19 and 23.0% of exon 21, respectively, and EGFR mutations usually occurred in the female, non-smokers and adenocarcinoma patients(P < 0.05). However, there was no relationship in age(P > 0.05). The total mutation rate of EML4-ALK fusion gene was 4.7%, EML4-ALK fusion gene mutations usually occurred in the female and younger age patients(P < 0.05). Mutations were not related to non-smoking and pathological type (P > 0.05). No mutation was detected to coexist in EGFR and EML4-ALK gene mutation. Conclusion:Due to high mutation frequency of EGFR in Chinese NSCLC patients, it is highly recommended to investigate EGFR gene mutations before treatment with tyrosine kinase inhibitors. EML4-ALK fusion gene defines another molecular subset of NSCLC with distinct characteristics, which provides a new option for the clinical treatment of patients with NSCLC. The coexistence phenomenon of EGFR mutation and EML4-ALK mutation is rare.