Chen X, et al. Mol Genet Genomic Med 2020.
BACKGROUND: We describe the clinical features, genetic profile, and their correlation in NSCLC patients.
METHODS: A total of 256 Chinese patients with NSCLC were enrolled in this study. NGS-based genomic profiling of major lung cancer-related genes was performed on formalin-fixed paraffin-embedded tumor samples.
RESULTS: Of 256 patients with NSCLC, 219 were adenocarcinoma and most of them were in the early stage. Among patients, 63.3% patients have more than two gene mutations. By analyzing variant allele frequency (VAF), we found that the median VAF has significant differences between squamous cell carcinoma and adenocarcinoma, as well as early stage and advanced stage. The frequency of mutations in EGFR, MET, and RET were significantly higher in nonsmokers than in smokers. Besides, Pearson correlation analysis found that ALK, BRAF, and MET mutations had a strong correlation with age. Notably, higher frequencies of ALK and BRAF alterations were associated with younger age, while more frequent MET mutations appear in the patients at age 55 or older.
CONCLUSION: More unique features of cancer driver genes in Chinese NSCLC were identified by next-generation sequencing. These findings highlighted that it is necessary to carry out targeted detection according to different clinical features for NSCLC.