TERT 启动子内单核苷酸多态性 rs2853669 与甲状腺乳头状癌的临床病理意义。

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

机构信息

Department of Pathology, School of Medicine, Kyorin University, Tokyo, Japan.

出版信息

Pathol Int. 2020 Apr;70(4):217-223. doi: 10.1111/pin.12900. Epub 2020 Jan 15.

PMID:31943527

Abstract

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 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 were investigated in 58 patients with PTC and compared with the clinicopathological parameters of PTC. rs2853669, C228T, C250T and BRAF 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.

摘要

甲状腺乳头状癌（PTC）是最常见的甲状腺恶性肿瘤。端粒酶逆转录酶（TERT）启动子中的点突变，C228T 和 C250T 以及致癌基因 BRAF 已被研究为 PTC 的危险因素。然而，关于 PTC 中 TERT 启动子的单核苷酸多态性 rs2853669 的研究甚少。本研究旨在阐明 rs2853669 在日本 PTC 患者中的临床病理意义。研究人员在 58 例 PTC 患者中调查了 rs2853669、C228T、C250T 和 BRAF 的遗传频率，并将其与 PTC 的临床病理参数进行了比较。在 58 例 PTC 患者中，分别发现了 rs2853669、C228T、C250T 和 BRAF 的频率为 58.6%、17.2%、5.2%和 37.0%。rs2853669 和 C228T 与肿瘤大小大于 2.0cm 有关（P < 0.05）。此外，rs2853669 和 C228T 的共存与肿瘤大小密切相关（P < 0.01），其比值比为 6.4（P < 0.05）。我们表明，rs2853669 以及 C228T 可能是 PTC 侵袭性的危险因素，这些突变的共存可能代表更大的风险。