Department of Radiation Medical Sciences, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.
Department of Endocrinology and Metabolism, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Clin Endocrinol (Oxf). 2021 Nov;95(5):790-799. doi: 10.1111/cen.14567. Epub 2021 Jul 28.
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.
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.
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.
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.
端粒酶逆转录酶启动子（TERT-p）突变与甲状腺乳头状癌（PTC）的侵袭性和预后不良密切相关。由于 TERT-p 突变被报道为亚克隆，因此尚不清楚术前细针抽吸（FNA）检测其的准确性。本研究旨在分析术前 FNA 和相应术后手术标本中 TERT-p 突变的一致性率。
研究了 96 例年龄在 55 岁或以上的 PTC 患者。通过液滴数字聚合酶链反应检测 TERT-p 的突变状态。
FNA 样本中 TERT-p 的突变状态与术后福尔马林固定和石蜡包埋（FFPE）标本高度一致。在 FNA 和 FFPE 样本的多变量分析中，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。
使用 FNA 样本检测 TERT-p 突变具有良好的预测疾病侵袭性的能力，因此在确定 PTC 管理方面可能具有临床意义。
