PREVALENCE OF THE BRAF V600E MUTATION AMONG INDIGENOUS INDIVIDUALS WITH PAPILLARY THYROID CARCINOMA RESIDING IN A RADIATION-EXPOSED AREA

Espenbetova M. Bidakhmetova A. Akilzhanova A. Atantayeva B. Krykpaeva A.
January 2025 Georgian Association of Business Press

Georgian Medical News
2025 #367 Issue 10 126 - 130 pp.

Introduction: Papillary thyroid carcinoma (PTC) accounts for nearly 85% of all thyroid malignancies worldwide. Molecular profiling continues to demonstrate that the BRAF V600E mutation is the dominant oncogenic alteration, identified in approximately 40–60% of PTC cases. Recent meta-analyses confirm that BRAF V600E is significantly correlated with tumor aggressiveness and resistance to radioiodine therapy, though regional variations exist. Objective: To investigate the BRAF V600E mutation in patients with neoplasms and to assess its association with clinical and cytological characteristics in indigenous people living in the territory of the former Semipalatinsk Nuclear Test Site (SNTS) across three generations. Materials and Methods: A cross-sectional study was conducted to determine the frequency of the BRAF V600E mutation in thyroid nodules using fine-needle aspiration biopsy (FNAB) material. The study included 157 FNAB samples obtained under ultrasound guidance from first-, second-, and third-generation residents of the SNTS high-radiation-risk zone. All samples were subjected to molecular genetic analysis for BRAF V600E using the PCR–RFLP method. Results: The study analyzed 157 fine-needle aspiration biopsy (FNAB) samples. Patient ages ranged from 31 to over 87 years, with a mean age of 68 ± 6.5 years. Women comprised 63% of the cohort and men 37%, yielding a female-to-male ratio of 1.7:1. All biopsies were performed under ultrasound guidance, and needle washings were used for molecular genetic analysis. Among the 157 samples, the following cytological diagnoses were made: papillary carcinoma – 97 cases (56.2%), benign tumors – 18 cases (13.1%), follicular neoplasia – 15 cases (10.9%), suspected carcinoma – 15 cases (10.9%), follicular carcinoma – 8 cases (5.8%), poorly differentiated carcinoma – 2 cases (1.5%), and malignant lymphoma – 1 case (0.72%). The BRAF V600E mutation was detected exclusively in papillary carcinoma samples. Conclusion: The analysis revealed an association between the BRAF V600E mutation and papillary thyroid cancer in patients exposed to radiation from nuclear testing at the former SNTS. These findings offer new prospects for targeted therapy and early diagnosis of malignant thyroid neoplasms. Following the closure of the test site, positive developments in public health have been observed: radiophobia has decreased and the population’s quality of life has improved. Furthermore, the adoption of iodine prophylaxis legislation and the country’s industrial growth have contributed to improved well-being and better epidemiological outcomes for thyroid cancer in subsequent generations.

BRAF V600E mutation , Papillary thyroid cancer , radiation exposure

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Department of Therapy, NJSC “Medical University of Semey”, Semey, Kazakhstan
National Laboratory Astana, Laboratory of Genomic and Personalized Medicine, Nazarbayev University, Astana, Kazakhstan
Candidate of Medical Sciences, Deputy Director for Nuclear Medicine, Strategic Development of Center of Nuclear Medicine and Oncology, Semey, Kazakhstan
Department of Nursing, NJSC Medical University of Semey, Semey, Kazakhstan

Department of Therapy
National Laboratory Astana
Candidate of Medical Sciences
Department of Nursing

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