Preoperative detection of the TERT promoter mutations in papillary thyroid carcinomas
Preoperative detection of the TERT promoter mutations in papillary thyroid carcinomas
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DOI：
10.1111/cen.14567
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发表时间：
2021-07-28
影响因子：
3.2
通讯作者：
Mitsutake, Norisato
中科院分区：
文献类型：
--
作者：
Nakao, Tomoe;Matsuse, Michiko;Mitsutake, Norisato
目的端粒酶逆转录酶启动子(TERT-p)突变与甲状腺乳头状癌(PTCs)的侵袭性和预后密切相关。由于TERT-p突变已被报道为亚克隆，尚不清楚通过术前细针抽吸(FNA)可以多准确地检测到它们。本研究的目的是分析TERT-p基因突变在术前和术后标本中的符合率。研究对象：96例年龄在55岁以上的PTC患者。液滴数字聚合酶链式反应检测TERT-p基因突变状态。结果FNA标本中TERT-p的突变状态与术后福尔马林固定石蜡包埋标本的TERT-p突变状态高度一致。在FNA和FFPE样本的多因素分析中，TERT-p突变与年龄、肿瘤大小、甲状腺外侵犯和Ki-67标记指数显著相关。结论用FNA检测TERT-p突变具有较好的预测疾病侵袭性的能力，可用于临床判断PTC的治疗。
Objective Telomerase reverse transcriptase promoter (TERT-p) mutations are strongly associated with tumour aggressiveness and worse prognosis in papillary thyroid carcinomas (PTCs). Since the TERT-p mutations have been reported to be subclonal, it is unclear how accurately they can be detected by preoperative fine-needle aspiration (FNA). The objective of this study was to analyse the concordance rate of the TERT-p mutations between preoperative FNA and corresponding postoperative surgical specimens. Design and Patients Ninety-six cases of PTC aged 55 years or older were studied. The mutational status of TERT-p was detected by droplet digital polymerase chain reaction assay. Results The mutational status of the TERT-p in FNA samples was highly concordant with that in postoperative formalin-fixed and paraffin-embedded (FFPE) specimens. The TERT-p mutation was significantly associated with age, tumour size, extrathyroidal extension and the Ki-67 labelling index in multivariate analysis in both FNA and FFPE samples. Conclusions The detection of the TERT-p mutations using FNA samples has a good ability to predict disease aggressiveness and, therefore, could be clinically useful in the determination of PTC management.