High Detection Rate of Uncommon Driver Gene Mutations in Lung Squamous Cell Carcinoma: A Single-Center, Small-Sample Study and Clinical Implications in the Wuling Mountain Area of China

Abstract

Objective: To investigate the characteristics and clinical significance of driver gene mutations in patients with lung squamous cell carcinoma (LUSC) from the Wuling Mountain area of China.

Materials and Methods: Clinical data and molecular testing results, including next-generation sequencing (NGS), polymerase chain reaction (PCR), and fluorescence in situ hybridization (FISH), from 64 patients with LUSC treated at Tongren People’s Hospital between September 2017 and April 2025 were retrospectively analyzed. Uncommon mutations were defined as alterations involving ALK, MET exon 14 skipping, BRAF, ERBB2, ROS1, and KRAS. Intergroup comparisons were performed using the chi-square test or Fisher’s exact test. This retrospective study used only de-identified clinical data and involved no patient intervention or identifiable privacy risk; therefore, ethics committee approval was not required.

Results: The overall driver gene mutation rate was 48.44% (31/64). Mutations potentially targetable with tyrosine kinase inhibitors (TKIs) were identified in 28.13% (18/64) of patients, of whom 44.4% harbored uncommon mutations. The mutation rate was significantly higher among patients from ethnic minority groups than among Han Chinese patients (44.4% vs. 19.4%, P < 0.05). Among the ethnic minority subgroups, the Miao group had the highest mutation rate (44.4%).

Conclusion: A relatively high detection rate of uncommon driver gene mutations was observed among patients with LUSC from the Wuling Mountain area, particularly among those from ethnic minority groups. These findings support the consideration of comprehensive molecular profiling in patients with LUSC, with particular attention to patients from ethnic minority populations.