• BRAF V600E mutation
• CNV
• gene amplification
• molecular biology
• papillary thyroid carcinoma
• rs2853669 polymorphism
• telomerase
• TERT promoter mutations
• tumor prognosis
• tumor size

Papillary thyroid carcinoma (PTC) is the most common form of malignant thyroid tumor. While most cases follow an indolent course, some variants exhibit aggressive clinical behavior, with local invasion, recurrence, and metastasis. In this study, 256 tumor samples were analyzed to assess the prevalence of key genetic alterations and their correlation with tumor size, used as a surrogate marker of aggressiveness. The analysis included BRAF V600E mutation, TERT promoter mutations (C228T and C250T), the rs2853669 (T349C) polymorphism, and, in a subset of 61 cases, TERT gene copy number variations assessed via MLPA. Results demonstrated a statistically significant correlation between TERT C228T mutation and increased tumor size, especially when co-occurring with BRAF V600E. The rs2853669 variant was also associated with larger tumors. MLPA analysis detected TERT gene amplification in 9.8% of the tested subset. These findings suggest that integrating mutational, regulatory, and quantitative genetic data may offer valuable prognostic insights, aid in risk stratification, and support more personalized clinical management of PTC.