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. 2021 Nov;95(5):790-799.
doi: 10.1111/cen.14567. Epub 2021 Jul 28.

Preoperative detection of the TERT promoter mutations in papillary thyroid carcinomas

Tomoe Nakao  1   2 , Michiko Matsuse  1 , Vladimir Saenko  3 , Tatiana Rogounovitch  1 , Aya Tanaka  1   4 , Keiji Suzuki  1 , Miyoko Higuchi  5 , Hisanori Sasai  6 , Tsutomu Sano  6 , Mitsuyoshi Hirokawa  5 , Akira Miyauchi  7 , Atsushi Kawakami  8 , Norisato Mitsutake  1
Affiliations

Preoperative detection of the TERT promoter mutations in papillary thyroid carcinomas

Tomoe Nakao et al. Clin Endocrinol (Oxf). 2021 Nov.

Abstract

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.

Keywords: BRAFV600E mutation; TERT promoter mutation; fine-needle aspiration papillary thyroid carcinoma.

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References

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