Molecular genetics features of anaplastic thyroid carcinoma

Abstract

INTRODUCTION: Anaplastic thyroid carcinoma (ATC) is the most aggressive type of thyroid cancer accounting for 1–2% 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.

Keywords

аnaplastic thyroid carcinoma / BRAF / NRAS / KRAS / TERT / NTRK1 / EML4-ALK / PAX8/PPARy / RET/PTC / microsatellite instability (MSI)

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