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Jun-Ho Choe 1 Article
Thyroid
Frequency of TERT Promoter Mutations in Real-World Analysis of 2,092 Thyroid Carcinoma Patients
Heera Yang, Hyunju Park, Hyun Jin Ryu, Jung Heo, Jung-Sun Kim, Young Lyun Oh, Jun-Ho Choe, Jung Han Kim, Jee Soo Kim, Hye Won Jang, Tae Hyuk Kim, Sun Wook Kim, Jae Hoon Chung
Endocrinol Metab. 2022;37(4):652-663.   Published online July 22, 2022
DOI: https://doi.org/10.3803/EnM.2022.1477
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  • 9 Web of Science
  • 12 Crossref
AbstractAbstract PDFSupplementary MaterialPubReader   ePub   
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.

Citations

Citations to this article as recorded by  
  • TERT Promoter Mutations Frequency Across Race, Sex, and Cancer Type
    Talal El Zarif, Marc Machaalani, Rashad Nawfal, Amin H Nassar, Wanling Xie, Toni K Choueiri, Mark Pomerantz
    The Oncologist.2024; 29(1): 8.     CrossRef
  • Gene mutations as predictors of central lymph mode metastasis in cN0 PTC: A meta‐analysis
    Jiaqi Ji, Xinlong Shi
    Clinical Genetics.2024; 105(2): 130.     CrossRef
  • Risk stratification by combining common genetic mutations and TERT promoter methylation in papillary thyroid cancer
    Ye Sang, Guanghui Hu, Junyu Xue, Mengke Chen, Shubin Hong, Rengyun Liu
    Endocrine.2024;[Epub]     CrossRef
  • Shortened telomere length in peripheral blood leukocytes is associated with cumulative radioactive iodine doses in patients with differentiated thyroid carcinoma
    Hoonsung Choi, Sun Wook Cho, Hwan Hee Kim, Ka Hee Yi, Do Joon Park, Young Joo Park
    Cancer.2024;[Epub]     CrossRef
  • Deciphering the Functions of Telomerase Reverse Transcriptase in Head and Neck Cancer
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    Biomedicines.2023; 11(3): 691.     CrossRef
  • 2023 Korean Thyroid Association Management Guidelines for Patients with Thyroid Nodules
    Young Joo Park, Eun Kyung Lee, Young Shin Song, Soo Hwan Kang, Bon Seok Koo, Sun Wook Kim, Dong Gyu Na, Seung-Kuk Baek, So Won Oh, Min Kyoung Lee, Sang-Woo Lee, Young Ah Lee, Yong Sang Lee, Ji Ye Lee, Dong-Jun Lim, Leehi Joo, Yuh-Seog Jung, Chan Kwon Jung
    International Journal of Thyroidology.2023; 16(1): 1.     CrossRef
  • Thyroid Cancer, Iodine, and Gene Mutation
    Jae Hoon Chung
    International Journal of Thyroidology.2023; 16(1): 89.     CrossRef
  • Mortality rate and causes of death in papillary thyroid microcarcinoma
    Jung Heo, Hyun Jin Ryu, Hyunju Park, Tae Hyuk Kim, Sun Wook Kim, Young Lyun Oh, Jae Hoon Chung
    Endocrine.2023;[Epub]     CrossRef
  • TERT promoter mutations in thyroid cancer
    Michiko Matsuse, Norisato Mitsutake
    Endocrine Journal.2023; 70(11): 1035.     CrossRef
  • TERT Promoter and BRAF V600E Mutations in Papillary Thyroid Cancer: A Single-Institution Experience in Korea
    Min Jhi Kim, Jin Kyong Kim, Gi Jeong Kim, Sang-Wook Kang, Jandee Lee, Jong Ju Jeong, Woong Youn Chung, Daham Kim, Kee-Hyun Nam
    Cancers.2022; 14(19): 4928.     CrossRef
  • Frequency of TERT Promoter Mutations in Real-World Analysis of 2,092 Thyroid Carcinoma Patients (Endocrinol Metab 2022;37:652-63, Heera Yang et al.)
    Hyunju Park, Jae Hoon Chung
    Endocrinology and Metabolism.2022; 37(6): 949.     CrossRef
  • Frequency of TERT Promoter Mutations in Real-World Analysis of 2,092 Thyroid Carcinoma Patients (Endocrinol Metab 2022;37:652-63, Heera Yang et al.)
    Sue Youn Kim, Chan Kwon Jung
    Endocrinology and Metabolism.2022; 37(6): 947.     CrossRef
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