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

<jats:p>Papillary thyroid carcinoma (PTC) is the most common thyroid malignancy. Point mutations in the <jats:italic>telomerase reverse transcriptase</jats:italic> (<jats:italic>TERT</jats:italic>) promoter, C228T and C250T and oncogene <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> have been investigated as risk factors for PTC. However, little research has been done on the single nucleotide polymorphism rs2853669 in the <jats:italic>TERT</jats:italic> 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 <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> were investigated in 58 patients with PTC and compared with the clinicopathological parameters of PTC. rs2853669, C228T, C250T and <jats:italic>BRAF</jats:italic><jats:sup><jats:italic>V600E</jats:italic></jats:sup> 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 (<jats:italic>P</jats:italic> < 0.05). Furthermore, the coexistence of <jats:italic>rs2853669</jats:italic> and C228T was strongly associated with tumor size <jats:italic>(P</jats:italic> < 0.01<jats:italic>)</jats:italic>, with an odds ratio of 6.4 (<jats:italic>P</jats:italic> < 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.</jats:p>