Retrospective study of the clinical value of genetic testing in the diagnosis and treatment of lung squamous cell carcinoma

Abstract Objectives To assess the necessity and clinical value of genetic testing in lung squamous cell carcinoma (LSCC) diagnosis and treatment. Methods This retrospective study enrolled 1,515 LSCC patients from Chongqing University Cancer Hospital. Medical records were reviewed to analyze gene mutations, treatment and healthcare economic outcomes for clinical benefit evaluation. Results Of 1,515 patients, 292 received genetic testing (221 smokers, 71 non-smokers). Fifty-six had clear driver gene mutations, with a 19.2% detection rate, dominated by EGFR (n = 26) and MET (n = 10) mutations. In non-smokers, the incidence of EGFR mutations (66.7%, 20/30) was significantly higher than that of other mutations, while the mutation types were scattered in smokers. Patients aged ≤ 65 years, females and non-smokers showed higher mutation rates. Targeted therapy improved objective response rate, disease control rate and median progression-free survival, with fewer grade 3–4 adverse events (4.7% vs 40.0%). Cost-effectiveness analysis showed a negative incremental cost-effectiveness ratio, meaning targeted therapy delivered better outcomes at lower costs. Conclusions Genetic testing is highly recommended for LSCC patients, especially non-smokers, those aged ≤ 65 years and females. Its combination with targeted therapy offers significant clinical benefits and favorable cost-effectiveness, guiding treatment selection and prognosis improvement.