PREVALENCE OF THE BRAF V600E MUTATION AMONG INDIGENOUS INDIVIDUALS WITH PAPILLARY THYROID CARCINOMA RESIDING IN A...

Area of Science:

• Oncology
• Genetics
• Public Health

Background:

• Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy globally.
• The BRAF V600E mutation is a key oncogenic driver in approximately 40-60% of PTC cases.
• BRAF V600E is associated with increased tumor aggressiveness and radioiodine resistance.

Purpose of the Study:

• To investigate the BRAF V600E mutation in thyroid neoplasms.
• To assess the mutation's association with clinical and cytological features.
• To study these associations in indigenous populations of the former Semipalatinsk Nuclear Test Site (SNTS) across three generations.

Main Methods:

• A cross-sectional study analyzed 157 fine-needle aspiration biopsy (FNAB) samples from SNTS residents.
• Samples were obtained via ultrasound-guided biopsy and analyzed for BRAF V600E using PCR-RFLP.
• Cytological diagnoses included papillary carcinoma, benign tumors, and various carcinomas.

Main Results:

• The BRAF V600E mutation was exclusively detected in papillary carcinoma samples (56.2% of all samples).
• No BRAF V600E mutations were found in benign tumors or other malignant types.
• The study included 157 FNAB samples from individuals aged 31-87, with a mean age of 68.

Conclusions:

• An association exists between the BRAF V600E mutation and papillary thyroid cancer in radiation-exposed SNTS populations.
• These findings support targeted therapy and early diagnosis of thyroid neoplasms.
• Public health improvements in the region include decreased radiophobia and better thyroid cancer outcomes in subsequent generations.