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This study investigates genetic alterations in non-small cell lung cancer (NSCLC) and identifies potential immunotherapy biomarkers.

May 3, 2026Open Access

Analysis of Somatic Mutations and Immunotherapy Biomarkers in Chinese Patients With Non‐Small Cell Lung Cancer During 2019–2024: A Retrospective Study

Key Points

This study investigates genetic alterations in non-small cell lung cancer (NSCLC) and identifies potential immunotherapy biomarkers.
Retrospective analysis of 554 pathological specimens from Chinese patients with NSCLC from October 2019 to December 2024.
Targeted next-generation sequencing (NGS) panels were used to analyze somatic mutations.
Fisher's exact test was employed to assess statistical significance.
High tumor mutation burden (TMB) is associated with effective immunotherapy responses.
Heterozygous HLA-I genotype is identified as a potential biomarker for treatment efficacy.
Statistical significance was noted with a p-value of 0.029.

Abstract

Background and Aims: Understanding genetic alterations in lung cancer remains challenging due to tumor heterogeneity and malignancy. This study aimed to investigate somatic variations and immune-related biomarkers in Chinese patients with NSCLC. Methods: This retrospective study involved Chinese patients with NSCLC from October 2019 to December 2024. A total of 554 pathological specimens were analyzed using targeted NGS panels. Fisher's exact test (two-sided, 95% confidence interval) was applied to assess statistical significance. The functional impact of certain mutations was validated in lung cancer cell lines. Results: = 0.029). Conclusion: Our findings suggest that a high TMB combined with a heterozygous HLA-I genotype serves as an effective biomarker for predicting the efficacy of immunotherapy in Chinese patients with NSCLC.

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