Clinicopathological significance of the single nucleotide polymorphism, rs2853669 within the TERT promoter in papillary thyroid carcinoma

Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy. Point mutations in the telomerase reverse transcriptase (TERT) promoter, C228T and C250T and oncogene BRAF(V600E) have been investigated as risk factors for PTC. However, little research has been done on the single nucleotide polymorphism rs2853669 in the TERT promoter in PTC. This study aimed to clarify the clinicopathological significance of rs2853669 in Japanese patients with PTC. The genetic frequencies of rs2853669, C228T, C250T and BRAF(V600E) were investigated in 58 patients with PTC and compared with the clinicopathological parameters of PTC. rs2853669, C228T, C250T and BRAF(V600E) were found in 58.6%, 17.2%, 5.2% and 37.0% of the PTC patients, respectively. PTC with rs2853669 and C228T were associated only with tumor sizes larger than 2.0 cm (P < 0.05). Furthermore, the coexistence of rs2853669 and C228T was strongly associated with tumor size (P < 0.01), with an odds ratio of 6.4 (P < 0.05). We showed that rs2853669, as well as C228T, may be a risk factor for the aggressiveness of PTC, and the coexistence of these mutations might represent greater risk.