Mutations in NSCLC identified by a next-generation sequencing targeted sequencing panel

Next-generation sequencing (NGS) has become a cost-effective approach to screening for a number of genes simultaneously in clinical use. The purpose of the present study is to screening for known mutations of cancer drug target genes in patients with non-small cell lung cancer (NSCLC) using an NGS targeted sequencing approach. Genomic DNA was extracted from sections of formalin-fixed paraffin-embedded (FFPE) tissue samples of 58 NSCLC patients. The Ion AmpliSeq Colon and Lung Cancer Research Panel v2 was used to screen. ARMS-PCR was used to validate the NGS results. NGS targeted sequencing revealed that 44 (75.9%) of the 58 carried mutations in 7 genes. Higher mutation frequencies were found in the EGFR (43.1%), TP53 (37.9%) and KRAS (12.1%) genes, and lower frequencies in the CTNNB1 (3.4%), NRAS (3.4%), SMAD4 (3.4%) and PIK3CA (1.7%) genes. A higher mutation rate was found in adenocarcinoma (ADK) samples compared to squamous cell carcinoma (SCC) samples, but the difference was not significant (P = 0.34). Female patients showed a significantly higher mutation rate in the EGFR gene than male patients (P = 0.03). A significantly higher number of EGFR mutations was observed in ADK samples compared to that in SCC samples (P = 0.02). The findings of the present study indicate that NGS targeted sequencing can effectively detect mutations in clinical tumor samples, thereby highlighting that NGS is a promising tool in personalized medicine.