Non-Conventional Mutations in Non-Small Cell Lung Cancer: Analysis of Tomographic Patterns
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Abstract
Introduction: Non-small cell lung cancer (NSCLC) is the most common type of lung cancer, with adenocarcinoma being the most prevalent. The main risk factor is smoking, although up to 25% of patients have never smoked. Imaging techniques provide a more detailed analysis of this pathology, and recent research has evaluated the relationship between imaging findings and genetic mutations.
Materials and methods: An observational study was conducted at the Instituto Nacional de Enfermedades Respiratorias “Ismael Cosío Villegas” from 2019 to 2024, involving 76 patients diagnosed with NSCLC. Clinical, tomographic and histological records of the patients were reviewed.
Results: The average age was 66 years; 57.89% were wome, and 40.78% were smokers. The most frequent mutations were ALK gene fusion (46.05%), KRAS mutation (22.36%), and ROS1 mutation (19.73%). Less common mutations included NTRK (5.26%), MET and RET (2.63%), and BRAF (1.31%). The tomographic presentation varied: ALK frequently showed pleural effusion, KRAS was associated with lung mass and effusion, and NTRK and RET presented mediastinal conglomerates and lymphangitic dissemination, respectively. Imaging findings could correlate with mutations in ALK, ROS1, and KRAS, although the less frequent mutations did not show a clear relationship.
Conclusions: Tomographic images in patients with NSCLC might reflect the mutation type, especially in ALK, ROS1 and KRAS. However, rare mutations did not show a correlation due to their low frequency.
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