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Original Articles
Highly prevalent BRAF V600E and low-frequency TERT promoter mutations underlie papillary thyroid carcinoma in Koreans
Sue Youn Kim, Taeeun Kim, Kwangsoon Kim, Ja Seong Bae, Jeong Soo Kim, Chan Kwon Jung
J Pathol Transl Med. 2020;54(4):310-317.   Published online June 15, 2020
DOI: https://doi.org/10.4132/jptm.2020.05.12
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  • 22 Web of Science
  • 22 Crossref
AbstractAbstract PDF
Background
The presence of telomerase reverse transcriptase (TERT) promoter mutations have been associated with a poor prognosis in patients with papillary thyroid carcinomas (PTC). The frequency of TERT promoter mutations varies widely depending on the population and the nature of the study.
Methods
Data were prospectively collected in 724 consecutive patients who underwent thyroidectomy for PTC from 2018 to 2019. Molecular testing for BRAF V600E and TERT promoter mutations was performed in all cases.
Results
TERT promoter alterations in two hotspots (C228T and C250T) and C216T were found in 16 (2.2%) and 4 (0.6%) of all PTCs, respectively. The hotspot mutations were significantly associated with older age at diagnosis, larger tumor size, extrathyroidal extension, higher pathologic T category, lateral lymph node metastasis, and higher American Thyroid Association recurrence risk. The patients with C216T variant were younger and had a lower American Thyroid Association recurrence risk than those with hotspot mutations. Concurrent BRAF V600E was found in 19 of 20 cases with TERT promoter mutations. Of 518 microcarcinomas measuring ≤1.0 cm in size, hotspot mutations and C216T variants were detected in five (1.0%) and three (0.6%) cases, respectively.
Conclusions
Our study indicates a low frequency of TERT promoter mutations in Korean patients with PTC and supports previous findings that TERT promoter mutations are more common in older patients with unfavorable clinicopathologic features and BRAF V600E. TERT promoter mutations in patients with microcarcinoma are uncommon and may have a limited role in risk stratification. The C216T variant seems to have no clinicopathologic effect on PTC.

Citations

Citations to this article as recorded by  
  • Active surveillance for adult low-risk papillary thyroid microcarcinoma—a review focused on the 30-year experience of Kuma Hospital—
    Yasuhiro Ito, Akira Miyauchi, Makoto Fujishima, Masashi Yamamoto, Takahiro Sasaki
    Endocrine Journal.2024; 71(1): 7.     CrossRef
  • Diagnostic utilities of washout CYFRA 21-1 combined with washout thyroglobulin for metastatic lymph nodes in thyroid cancer: a prospective study
    Joonseon Park, Solji An, Kwangsoon Kim, Jeong Soo Kim, Chan Kwon Jung, Ja Seong Bae
    Scientific Reports.2024;[Epub]     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
  • Incidence and risk factors for occult lesions in low-risk papillary thyroid microcarcinoma patients with tumor characteristics appropriate for thermal ablation: A retrospective study
    Langping Jin, Kaijun Zhu, Changliang Xu, Jiaying Lu, Liming Huang
    Medicine.2023; 102(38): e34938.     CrossRef
  • Identification of NIFTP-Specific mRNA Markers for Reliable Molecular Diagnosis of Thyroid Tumors
    So-Yeon Lee, Jong-Lyul Park, Kwangsoon Kim, Ja Seong Bae, Jae-Yoon Kim, Seon-Young Kim, Chan Kwon Jung
    Endocrine Pathology.2023; 34(3): 311.     CrossRef
  • Risk factors and predictive model for recurrence in papillary thyroid carcinoma: a single-center retrospective cohort study based on 955 cases
    Yin Li, Jiahe Tian, Ke Jiang, Zhongyu Wang, Songbo Gao, Keyang Wei, Ankui Yang, Qiuli Li
    Frontiers in Endocrinology.2023;[Epub]     CrossRef
  • BRAFV600E Positivity-Dependent Effect of Age on Papillary Thyroid Cancer Recurrence Risk
    Joonseon Park, Solji An, Kwangsoon Kim, Ja Seong Bae, Jeong Soo Kim
    Cancers.2023; 15(22): 5395.     CrossRef
  • BRAFV600E mutation test on fine‐needle aspiration specimens of thyroid nodules: Clinical correlations for 4600 patients
    Huang Chen, Aiping Song, Ye Wang, Yifan He, Jie Tong, Jinxi Di, Chun Li, Zhongren Zhou, Xiaopin Cai, Dingrong Zhong, Jiping Da
    Cancer Medicine.2022; 11(1): 40.     CrossRef
  • Clinicopathological indicators for TERT promoter mutation in papillary thyroid carcinoma
    Hee Young Na, Hyeong Won Yu, Woochul Kim, Jae Hoon Moon, Chang Ho Ahn, Sang Il Choi, Yeo Koon Kim, June Young Choi, So Yeon Park
    Clinical Endocrinology.2022; 97(1): 106.     CrossRef
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    Hafeez Afolabi, Salzihan Md Salleh, Zaidi Zakaria, Ch’ng Ewe Seng, Siti Norasikin Binti Mohd Nafil, Ahmad Aizat Bin Abdul Aziz, Yusuf Wada, Ahmad Irekeola, Syed Sameer Aga
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    Artur Kuchareczko, Janusz Kopczyński, Artur Kowalik, Kinga Hińcza-Nowak, Agnieszka Walczyk, Iwona Pałyga, Tomasz Trybek, Monika Szymonek, Danuta Gąsior-Perczak, Klaudia Gadawska-Juszczyk, Estera Mikina, Izabela Płachta, Agnieszka Suligowska, Agnieszka Płu
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    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.)
    Sue Youn Kim, Chan Kwon Jung
    Endocrinology and Metabolism.2022; 37(6): 947.     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
  • Molecular Pathology of Non-familial Follicular Epithelial–Derived Thyroid Cancer in Adults: From RAS/BRAF-like Tumor Designations to Molecular Risk Stratification
    Paula Soares, Antónia Afonso Póvoa, Miguel Melo, João Vinagre, Valdemar Máximo, Catarina Eloy, José Manuel Cameselle-Teijeiro, Manuel Sobrinho-Simões
    Endocrine Pathology.2021; 32(1): 44.     CrossRef
  • Clinicopathological Characteristics and Recurrence-Free Survival of Rare Variants of Papillary Thyroid Carcinomas in Korea: A Retrospective Study
    Mijin Kim, Sun Wook Cho, Young Joo Park, Hwa Young Ahn, Hee Sung Kim, Yong Joon Suh, Dughyun Choi, Bu Kyung Kim, Go Eun Yang, Il-Seok Park, Ka Hee Yi, Chan Kwon Jung, Bo Hyun Kim
    Endocrinology and Metabolism.2021; 36(3): 619.     CrossRef
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    Yujiro Hayashi, Kazutoshi Fujita, George J. Netto, Norio Nonomura
    Frontiers in Oncology.2021;[Epub]     CrossRef
  • MicroRNA Profile for Diagnostic and Prognostic Biomarkers in Thyroid Cancer
    Jong-Lyul Park, Seon-Kyu Kim, Sora Jeon, Chan-Kwon Jung, Yong-Sung Kim
    Cancers.2021; 13(4): 632.     CrossRef
  • Prospective Analysis of TERT Promoter Mutations in Papillary Thyroid Carcinoma at a Single Institution
    Yun-Suk Choi, Seong-Woon Choi, Jin-Wook Yi
    Journal of Clinical Medicine.2021; 10(10): 2179.     CrossRef
  • Significance of telomerase reverse-transcriptase promoter mutations in differentiated thyroid cancer
    Hung-Fei Lai, Chi-Yu Kuo, Shih-Ping Cheng
    Formosan Journal of Surgery.2021; 54(5): 171.     CrossRef
  • Early Diagnosis of Low-Risk Papillary Thyroid Cancer Results Rather in Overtreatment Than a Better Survival
    Jolanta Krajewska, Aleksandra Kukulska, Malgorzata Oczko-Wojciechowska, Agnieszka Kotecka-Blicharz, Katarzyna Drosik-Rutowicz, Malgorzata Haras-Gil, Barbara Jarzab, Daria Handkiewicz-Junak
    Frontiers in Endocrinology.2020;[Epub]     CrossRef
Classic Papillary Thyroid Carcinoma with Tall Cell Features and Tall Cell Variant Have Similar Clinicopathologic Features
Woo Jin Oh, Young Sub Lee, Uiju Cho, Ja Seong Bae, Sohee Lee, Min Hee Kim, Dong Jun Lim, Gyeong Sin Park, Youn Soo Lee, Chan Kwon Jung
Korean J Pathol. 2014;48(3):201-208.   Published online June 26, 2014
DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.3.201
  • 15,218 View
  • 129 Download
  • 35 Crossref
AbstractAbstract PDF
Background

The tall cell variant of papillary thyroid carcinoma (TCVPTC) is more aggressive than classic papillary thyroid carcinoma (PTC), but the percentage of tall cells needed to diagnose TCVPTC remains controversial. In addition, little is known about the clinicopathologic features of classic PTC with tall cell features (TCF).

Methods

We retrospectively selected and reviewed the clinicopathologic features and presence of the BRAF mutation in 203 cases of classic PTC, 149 cases of classic PTC with TCF, and 95 cases of TCVPTCs, which were defined as PTCs having <10%, 10-50%, and ≥50% tall cells, respectively.

Results

TCVPTCs and classic PTCs with TCF did not vary significantly in clinicopathologic characteristics such as pathologic (p) T stage, extrathyroidal extension, pN stage, lateral lymph node metastasis, or BRAF mutations; however, these features differed significantly in TCVPTCs and classic PTCs with TCF in comparison to classic PTCs. Similar results were obtained in a subanalysis of patients with microcarcinomas (≤1.0 cm in size).

Conclusions

Classic PTCs with TCF showed a similar BRAF mutation rate and clinicopathologic features to TCVPTCs, but more aggressive characteristics than classic PTCs.

Citations

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Application of Bethesda System for Reporting Thyroid Aspiration Cytology.
Kyungji Lee, Chan Kwon Jung, Kyo Young Lee, Ja Seong Bae, Dong Jun Lim, So Lyung Jung
Korean J Pathol. 2010;44(5):521-527.
DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.5.521
  • 4,592 View
  • 60 Download
  • 20 Crossref
AbstractAbstract PDF
BACKGROUND
The Bethesda classification system for reporting on thyroid fine-needle aspiration (FNA) cytology was recently proposed by the National Cancer Institute, USA. We aimed to report our experience with applying this system for thyroid FNA, with a focus on comparing it with the four categorical system.
METHODS
We retrospectively reviewed the 4,966 thyroid FNAs that were performed at the Seoul St. Mary's Hospital between October 2008 and September 2009. All the FNAs were classified according to the Bethesda system and the four tier system.
RESULTS
The cytologic diagnoses of the Bethesda system included 10.0% unsatisfactory, 67.7% benign, 3.1% atypia of undetermined significance, 0.6% follicular neoplasm, 0.5% follicular neoplasm, Hurthle cell type, 5.1% suspicious for malignancy and 13.0% malignancy. Using four tier system, 10.1%, 67.6%, 9.3%, and 13% were diagnosed as unsatisfactory, negative for malignancy, atypical cells and malignancy, respectively. Of the 4,966 nodules, 905 were histologically confirmed. The specificity of the Bethesda system and the four tier system for diagnosing malignancy was 99.6% and 82.6%, respectively.
CONCLUSIONS
The Bethesda system can classify indeterminate thyroid nodules into more detailed categories and provide clinicians with useful information for management.

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