BƯỚC ĐẦU ĐÁNH GIÁ TÌNH TRẠNG ĐỘT BIẾN GENE TERT PROMOTER Ở BỆNH NHÂN UNG THƯ TUYẾN GIÁP THỂ BIỆT HÓA KHÁNG IỐT PHÓNG XẠ BẰNG PHƯƠNG PHÁP REAL-TIME PCR

Abstract

Background and Aims: Radioiodine-refractory differentiated thyroid cancer (RAIR-DTC) represents a major clinical challenge due to its poor prognosis and resistance to conventional therapies. Mutations in the TERT promoter, particularly C228T and C250T, have been strongly associated with aggressive disease and radioiodine resistance. This study aimed to establish and optimize a reliable real-time PCR method for detecting TERT promoter mutations and to preliminarily evaluate the mutation prevalence and clinical significance in Vietnamese RAIR-DTC patients.

Methods and Subjects: A real-time PCR assay was designed using specific primers and dual-labeled probes targeting TERT promoter mutations. The method was validated against Sanger sequencing on FFPE samples from 20 confirmed cases. The validated protocol was then applied to analyze TERT promoter mutation status in 30 RAIR-DTC patients treated at 108 Military Central Hospital.

Results: The real-time PCR method demonstrated 90% sensitivity and 100% specificity in comparison with Sanger sequencing. Among the 30 RAIR-DTC patients, the TERT promoter mutation rate was 43.3%. The presence of mutations was significantly associated with age ≥ 55 years (p=0.012) and pre-therapeutic serum Tg > 10 ng/mL (p=0.007), indicating a potential link to poor prognosis.

Conclusions: The established real-time PCR assay is a sensitive and specific method for detecting TERT promoter mutations in clinical samples. The high mutation rate and its correlation with unfavorable clinical features suggest that TERT promoter status may serve as a valuable prognostic biomarker and aid in personalizing treatment strategies for RAIR-DTC patients.