ISSN : 2146-3123
E-ISSN : 2146-3131

Evaluation of the Mutation Profile via Next-Generation Sequencing in a Turkish Population with Non-small Cell Lung Cancer
Nesibe Kahraman Çetin1, İbrahim Halil Erdoğdu1, Emin Bozkurt2, İbrahim Meteoğlu1
1Department of Pathology, Aydın Adnan Menderes University School of Medicine, Aydın, Turkey
2Department of Veterinary, Eldivan Vocational School of Health Services, Çankırı Karatekin University, Çankırı, Turkey
DOI : 10.5152/balkanmedj.2021.21049
Pages : 382-391

Background: Lung cancer is the most common cancer type worldwide, with non-small cell lung cancer being the most frequently studied. Identifying of cancer-related genes in non-small cell lung cancer is crucial for developing individualized treatment, particularly as mutation profiles can vary by country and ethnicity.
Aims: To identify comprehensive mutation profiles in a cohort of Turkish patients with non-small cell lung cancer using the next-generation sequencing.
Study Design: Retrospective cross-sectional study. 
Methods: In total, 72 cancer-related genes and 4149 variants were recorded in the non-small cell lung cancer panel, and their relationship with clinical and histopathological features was investigated through next-generation sequencing.
Results: Among 507 patients, 420 (82.8%) were males and 87 (17.2%) were females. Percentages of phosp hatid ylino sitol -4,5- bisph ospha te 3-kinase catalytic subunit alpha (11%), B-Raf proto-oncogene, serine/threonine kinase (8%), and neurofibromatosis type 1 (6%) mutations were higher than those reported in the literature. Males had a higher rate of Kirsten rat sarcoma 2 viral oncogene homolog mutations (P = .102), whereas epidermal growth factor receptor mutations were statistically more common in females (P = .001). Multiple variants of strong significance were identified in 6.3% patients diagnosed with adenocarcinoma, most of whom were smokers. Kirsten rat sarcoma 2 viral oncogene homolog and phosp hatid ylino sitol -4,5- bisph ospha te 3-kinase catalytic subunit alpha mutations were most commonly observed.
Conclusion: This study shows that Turkish patients have higher rates of PIK3CA, BRAF and NF1 mutations compared to the literature. Studies to determine the molecular profile specific to Turkish people will guide clinicians in treatment and contribute significantly to determining priorities in diagnosis.

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