Clinicopathological characterization of next-generation sequencing detected mutations in lung cancers-a single-center experience.

Background: Despite many advances in molecular procedures many lung cancer patients do not receive full panel testing. This can limit the comprehensive understanding of their disease and potentially hinder personalized treatment options.

Methods: In this retrospective analysis, we used results from next-generation sequencing (NGS) testing of 154 patients with adenocarcinoma (AC) or squamous cell carcinoma (SCC) of the lung treated at the University Hospital, Ludwig-Maximilians Universität (LMU) Munich between 2018 and 2021. We compared different clinicopathological features and patients' baseline characteristics with results of NGS testing. We used -test and analysis of variance (ANOVA) to compare metric- and χ-test and Fisher's exact test to compare categorical variables.

Results: NGS testing found mutations in 107 (69.5%) patients; 44 patients (28.6%) had more than one mutation. The majority (79.2%) of patients had AC and 64.9% were metastasized at diagnosis. Patients with detected mutations had significantly higher expression than those without mutations (36.4% 19.2%, P=0.005). Mean expression also differed between different mutations ranging from 24.0% in to 56.8% in patients with alterations, and increased with the number of different mutations (P=0.07). mutations were significantly more common in females compared to males (22.9% 9.5%, P=0.04) and mutations significantly more common in SCC (21.9% 2.5%, P=0.004). We found 23 different mutations in AC and 13 different gene mutations in SCC.

Conclusions: Mutation profiles differed by histological type and metastases status and were significantly associated with expression. In the context of limited resources, our results may help prioritize patient for testing when tissue material and funding is limited.