Effect of single‐nucleotide polymorphism inTERTpromoter on follicular thyroid tumor development
Effect of single‐nucleotide polymorphism inTERTpromoter on follicular thyroid tumor development
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TERT启动子单核苷酸多态性对滤泡性甲状腺肿瘤发生发展的影响
DOI：
10.1111/pin.12893
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发表时间：
2020
影响因子：
2.2
通讯作者：
Kamma Hiroshi
中科院分区：
文献类型：
--
作者：
Hirokawa Tatsuya;Arimasu Yuu;Nakazato Yoko;Chiba Tomohiro;Fujiwara Masachika;Kamma Hiroshi
滤泡性甲状腺肿瘤是一种常见的甲状腺肿瘤，分为滤泡性甲状腺腺瘤（FTA）和滤泡性甲状腺癌（FTC）。FTA和FTC的肿瘤发展机制尚未完全了解。端粒酶逆转录酶（TERT）启动子的单核苷酸多态性（SNP）和点突变与许多癌症的发生有关。为了阐明TERT启动子SNP和突变的意义，包括rs 2853669（− 245 T>C）、C228 T和C250 T，我们分析了59例FTA患者和19例FTC患者。rs 2853669在FTA和FTC中的检出率分别为67.8%（40/59）和57.9%（11/19），且纯合子rs 2853669（CC）在FTC中的检出率高于FTA。在FTA中，rs 2853669与大于2.0cm的肿瘤显著相关（P< 0.05）。C228 T在FTA和FTC中的检出率分别为5.1%和36.8%。rs 2853669或/和C228 T突变在FTA和FTC中的频率分别为71.2%和73.7%，且在FTA中与较大的肿瘤显著相关（P< 0.05）。在FTA和FTC中，认为Rs 2853669与肿瘤发生相关。
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 thetelomerase reverse transcriptase(TERT) promoter have been associated with tumor development of many cancers. In order to clarify the significance ofTERTpromoter 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.