Effect of single-nucleotide polymorphism in TERT promoter on follicular thyroid tumor development

Follicular thyroid neoplasm is a common tumor, and consists of follicular thyroid adenoma (FTA) and carcinoma (FTC). The mechanisms of tumor development of FTA and FTC are not well-understood. Single-nucleotide polymorphisms (SNPs) and point mutations in the telomerase reverse transcriptase (TERT) promoter have been associated with tumor development of many cancers. In order to clarify the significance of TERT promoter SNPs and mutations, including rs2853669 (-245T>C), C228T, and C250T, we analyzed 59 FTA patients and 19 FTC patients. Rs2853669 was found in 67.8% (40/59) and 57.9% (11/19) of FTAs and FTCs, respectively, and homozygous rs2853669 (CC) was more frequently found in FTC than in FTA. Furthermore, in FTA, rs2853669 was significantly associated with tumor size greater than 2.0 cm (P < 0.05). C228T was found in 5.1% and 36.8% of FTAs and FTCs, respectively. Frequencies of rs2853669 or/and C228T mutation were 71.2% in FTAs and 73.7%, in FTCs, and were significantly associated with larger tumor sizes in FTAs (P < 0.05). Rs2853669 is considered to be associated with tumor development in FTA and FTC.