Endocrinol Metab.  2022 Aug;37(4):652-663. 10.3803/EnM.2022.1477.

Frequency of TERT Promoter Mutations in Real-World Analysis of 2,092 Thyroid Carcinoma Patients

• Yang H
• Park H
• Ryu HJ
• Heo J
• Kim JS
• Oh YL
• Choe JH
• Kim JH
• Kim JS
• Jang HW
• Kim TH
• Kim SW
• Chung JH

• KMID: 2532865
• DOI: http://doi.org/10.3803/EnM.2022.1477

Abstract

Background
Telomerase reverse transcriptase (TERT) promoter mutations are associated with increased recurrence and mortality in patients with thyroid carcinoma. Previous studies on TERT promoter mutations were retrospectively conducted on a limited number of patients.
Methods
We prospectively collected data on all consecutive patients who underwent thyroid carcinoma surgery between January 2019 and December 2020 at the Samsung Medical Center, Seoul, Korea. We included 2,092 patients with thyroid carcinoma.
Results
Of 2,092 patients, 72 patients (3.4%) had TERT promoter mutations. However, the frequency of TERT promoter mutations was 0.5% in papillary thyroid microcarcinoma (PTMC) ≤1 cm and it was 5.8% in papillary thyroid carcinoma (PTC) >1 cm. The frequency of TERT promoter mutations was significantly associated with older age at diagnosis (odds ratio [OR], 1.12; P<0.001), larger primary tumor size (OR, 2.02; P<0.001), and aggressive histological type (OR, 7.78 in follicular thyroid carcinoma; OR, 10.33 in poorly differentiated thyroid carcinoma; OR, 45.92 in anaplastic thyroid carcinoma; P<0.001). Advanced T stage, advanced N stage, and distant metastasis at diagnosis were highly prevalent in mutated thyroid cancers. However, initial distant metastasis was not present in patients with TERT promoter mutations in PTMC. Although the C228T mutation was more highly detected than the C250T mutation (64 cases vs. 7 cases), there were no significant clinicopathological differences.
Conclusion
This study is the first attempt to investigate the frequency of TERT promoter mutations in a real-world setting. The frequency of TERT promoter mutations in PTC was lower than expected, and in PTMC, young patients, and female patients, the frequency was very low.

Keyword

Thyroid neoplasms; Mutation rate; Telomerase reverse transcriptase; Mutation

Figure

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  Fig. 1. The frequency of telomerase reverse transcriptase (TERT) promoter mutations according to age in 2,092 thyroid carcinoma patients.

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  Fig. 2. The frequency of telomerase reverse transcriptase (TERT) promoter mutations according to tumor size in 2,092 thyroid carcinoma patients.

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