1. Molecular genetics features of anaplastic thyroid carcinoma
- Author
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Anastasia K. Musonova, Vladimir D. Nazarov, Daria V. Sidorenko, Aram A. Musaelyan, Ekaterina A. Alekseeva, Daria A. Kuzovenkova, Evgeniya S. Kozorezova, Sergey L. Vorobev, Sergey V. Orlov, Aleksandrа V. Mazing, Sergey V. Lapin, and Vladimir L. Emanuel
- Subjects
General Medicine - Abstract
INTRODUCTION: Anaplastic thyroid carcinoma (ATC) is the most aggressive type of thyroid cancer accounting for 12% of all malignancies. Systemic therapy remains the main treatment strategy. Targeted therapy and immunotherapy are prescribed when certain molecular genetic aberrations are detected. THE AIM: To investigate the molecular genetic profile of samples of anaplastic thyroid carcinoma. MATERIALS AND METHODS: The study included 37 patients with ATC. Mutation V600E BRAF, mutations in the gene NRAS and KRAS were detected by allele-specific polymerase chain reaction (AS-PCR). Microsatellite instability (MSI) was determined by fragment analysis in according to ESMO recommendations. Mutations in the promoter region of the TERT gene were used by Sanger sequencing. NTRK1, EML4-ALK, PAX8/PPARy и RET/PTC translocations were determined in all patients with ATC by real-time polymerase chain reaction (PCR). RESULTS: According to the results of the study, the frequency of the V600E mutation in the BRAF gene was 32.4% (12/37). The frequency of aberrations in the NRAS, KRAS genes in anaplastic thyroid carcinoma was 13.5% (n=5). The prevalence of point mutations in the promoter gene TERT in food samples of ATC was 24.3% (n=9). MSI was found in 2.7% (1/37) of cases of anapalastic thyroid carcinoma. NTRK1, EML4-ALK, PAX8/PPARy and RET/PTC translocations were not detected in cases with anaplastic thyroid carcinoma. CONCLUSION: The further study of the main specific molecular targets in cancer cells will allow to personalize the tactics of patients with anaplastic thyroid carcinoma.
- Published
- 2023
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