The Prevalence and Concurrent Pathogenic Mutations of in Northeast Chinese Non-small-cell Lung Cancer Patients

Objective: mutation is one of important driver genes in non-small-cell lung cancer (NSCLC) and the patients with mutations benefit from the inhibitor AMG510. However, the frequency, concurrent pathogenic mutations, and clinical characteristic of is unknown in the NSCLC population of Northeast China.

Methods: The retrospective analysis was derived from 431 NSCLC patients in Jilin Cancer Hospital between January 2018 and June 2019. The mutation frequency and concurrent mutations of in tumor or peripheral blood was detected by next-generation sequencing (NGS).

Results: The mutant rate was observed in 10.7% (46/431) of this cohort. All -driver cancers are caused by mutations in the isoform, while the and isoforms were not detected. Among mutant patients, 42 (91.3%) showed exon 2 mutation in 12 codon and 13 codon. showed a 4.6% (20/431) mutation rate in this cohort and the highest frequency (43.5%, 20/46) in -mutant-positive patients. There was no difference between tumor tissue and plasma in terms of either or mutation. The most frequent co-occurrence mutations with were , followed by . Furthermore, was exclusive with mutation. mutation was associated with age, disease stage, and smoking status (=0.024; =0.02; =0.006), smoking remained an independent factor for mutation (=0.037), and higher mutation frequency in patients older than 60, stage I-III, or smoking in NSCLC (=0.0151, =0.0343, =0.0046, respectively).

Conclusion: mutation was the only isoforms of family, of these 43.5% harbored the subtype in northeastern Chinese NSCLC patients. is associated with age, pathological stage and smoking status, more commonly harbored / mutations, and providing more genome profile for targeted therapy in local clinical practice.