Genomic characteristics of driver genes in Chinese patients with non-small cell lung cancer

Background: The aim of this study was to determine the demographic profile of driver gene alterations, especially low-frequency gene alterations in Chinese patients with non-small cell lung cancer (NSCLC).

Methods: A total of 7395 Chinese patients with NSCLC were enrolled in the study. Next-generation sequencing (NGS) was performed on formalin-fixed paraffin-embedded specimens collected via either surgical resection or biopsy.

Results: The frequent genomic alterations found in the study were EGFR mutations (51.7%), KRAS mutations (13.1%), MET alterations (5.6%; 3.2% copy number gains and 0.5% exon 14 skipping mutation), HER2 alterations (7.0%; 2.0% copy number gains and 5.4% mutations), ALK alterations (7.2%; 3.9% rearrangements), RET rearrangements (1.4%), ROS1 rearrangements (0.9%), and NTRK rearrangements (0.6%). The EGFR mutation rate was found to be significantly higher in women than in men (69.1% vs. 38.5%, P < 0.001), while the KRAS mutation (17.5% vs. 7.3%, P < 0.001) and MET alteration rates (6.5% vs. 4.5%, P < 0.001) were significantly higher in men than in women. The EGFR mutation rate tended to decrease with age in the group aged >40 years, while the KRAS mutation rate tended to increase with age. The HER2 mutation (13.9% vs. 6.7%, P < 0.001) and ALK alteration rates (14.3% vs. 6.9%, P < 0.001) were significantly higher in the group aged <40 years than in groups aged 40 years or older.

Conclusions: The frequency of different driver genes was diverse in different age-gender groups, and the results of this study may assist clinicians in clinical decision-making and the development of public healthcare strategies in the future.

Key points: SIGNIFICANT FINDINGS OF THE STUDY: This study demonstrated that the frequency of different driver genes was diverse in different age-gender groups. What this study adds It may enable clinicians to make clinical decisions, and assist government, pharmaceutical researchers and insurance companies develop public healthcare strategies.