Abstract
Background: Targeted therapy has transformed the management of non-small cell lung cancer by improving survival in patients with identifiable driver mutations. However, tissue biopsies often yield insufficient material for molecular testing, leading to delays in initiating personalized treatment. Liquid biopsy offers a non-invasive alternative for mutation detection.
Methods: This single-center observational study was conducted between February and October 2024 and enrolled 48 patients with newly diagnosed non-small lung cancer who had inadequate tumor tissue for molecular profiling. Peripheral blood samples were analyzed using next-generation sequencing to determine the mutation spectrum. Clinical data, mutational profiles, and treatment outcomes were recorded. Descriptive statistics were used to summarize baseline characteristics, mutation frequencies, and treatment responses.
Results: Circulating tumor Deoxyribonucleic acid analysis identified mutations in 28 of 48 patients (58.3%). Actionable mutations were detected in 20 patients (41.6%), with epidermal growth factor receptor alterations being most frequent, followed by Anaplastic Lymphoma kinase rearrangements and other less common targets. Among patients who received targeted therapy combined with chemotherapy, 14.3% achieved complete metabolic response and 71.4% had partial response at the time of analysis.
Conclusions: Liquid biopsy using next-generation sequencing can reliably identify actionable mutations in patients with non-small cell lung cancer where tissue sampling is inadequate, thereby facilitating timely initiation of personalized therapy in real-world clinical settings.