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Ja Seong Bae 2 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
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  • 149 Download
  • 15 Citations
AbstractAbstract PDF
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.
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.
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.
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 to this article as recorded by  
  • BRAF V600E 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;[Epub]     CrossRef
  • A Systematic Review and Meta-analysis on the Occurrence of Biomarker Mutation in Colorectal Cancer among the Asian Population
    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
    BioMed Research International.2022; 2022: 1.     CrossRef
  • A Significance of Concomitant BRAFV600E and TERT Mutations in Polish Patients with Papillary Thyroid Microcarcinoma: A Retrospective Cohort Study Based on 430 Cases
    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
    Thyroid.2022; 32(11): 1372.     CrossRef
  • Machine learning for identifying benign and malignant of thyroid tumors: A retrospective study of 2,423 patients
    Yuan-yuan Guo, Zhi-jie Li, Chao Du, Jun Gong, Pu Liao, Jia-xing Zhang, Cong Shao
    Frontiers in Public Health.2022;[Epub]     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.)
    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
  • Clinical Application of TERT Promoter Mutations in Urothelial Carcinoma
    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
  • 14,115 View
  • 115 Download
  • 29 Citations
AbstractAbstract PDF

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).


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.


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).


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


Citations to this article as recorded by  
  • CD56 Expression in Papillary Thyroid Carcinoma Is Highly Dependent on the Histologic Subtype: A Potential Diagnostic Pitfall
    Uiju Cho, Yourha Kim, Sora Jeon, Chan Kwon Jung
    Applied Immunohistochemistry & Molecular Morphology.2022; 30(5): 389.     CrossRef
  • Aggressive histopathological variants of papillary thyroid carcinoma, diagnostic challenge, and clinical significance—A case series
    PK Pravanya, KR Anila, Shaji Thomas, A Sreekumar, K Jayasree
    Medical Journal of Dr. D.Y. Patil Vidyapeeth.2022;[Epub]     CrossRef
  • Tall cell variant papillary thyroid carcinoma impacts disease-free survival at the 10 % cut-point on multivariate analysis
    Shabnam Samankan, Leah Militello, Gabriella Seo, Sedef Everest, Quinn O'Malley, Sarah L. Spaulding, Monica Xing, Ammar Matloob, John Beute, Raymond Chai, Scott Doyle, Mark L. Urken, Margaret Brandwein-Weber
    Pathology - Research and Practice.2022; 236: 154012.     CrossRef
  • A population-based study of the three major variants of papillary thyroid carcinoma
    Junming Xu, Yingying Zhang, Jun Liu, Shenglong Qiu, Min Wang
    Journal of International Medical Research.2021; 49(2): 030006052098461.     CrossRef
  • Tall cell percentage alone in PTC without aggressive features should not guide patients’ clinical management
    Anello Marcello Poma, David Viola, Elisabetta Macerola, Agnese Proietti, Eleonora Molinaro, Dario De Vietro, Rossella Elisei, Gabriele Materazzi, Paolo Miccoli, Fulvio Basolo, Clara Ugolini
    The Journal of Clinical Endocrinology & Metabolism.2021; 106(10): e4109.     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
  • Deep Neck Infection: Atypical Presentation of Papillary Thyroid Cancer
    Apichana Mahattanapreut, Rangsima Aroonroch, Chalermchai Chintrakarn, Chutintorn Sriphrapradang, Dinesh K. Chhetri
    Case Reports in Otolaryngology.2021; 2021: 1.     CrossRef
  • The evolving concept of aggressive histological variants of differentiated thyroid cancer
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    Seminars in Diagnostic Pathology.2020; 37(5): 228.     CrossRef
  • Papillary Thyroid Cancer—Aggressive Variants and Impact on Management: A Narrative Review
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    Current Opinion in Endocrinology, Diabetes & Obesity.2020; 27(5): 351.     CrossRef
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  • Updates in the Pathologic Classification of Thyroid Neoplasms: A Review of the World Health Organization Classification
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    Endocrinology and Metabolism.2020; 35(4): 696.     CrossRef
  • Tall Cell Variant of Papillary Thyroid Carcinoma: Impact of Change in WHO Definition and Molecular Analysis
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    Endocrine Pathology.2019; 30(1): 43.     CrossRef
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    A. V. Bogolyubova, A. Yu. Abrosimov, L. S. Selivanova, P. V. Belousov
    Arkhiv patologii.2019; 81(1): 46.     CrossRef
  • Papillary Thyroid Cancers with Focal Tall Cell Change are as Aggressive as Tall Cell Variants and Should Not be Considered as Low-Risk Disease
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  • Papillary thyroid carcinoma with tall cell features is as aggressive as tall cell variant: a meta-analysis
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  • TERT Promoter Mutation in an Aggressive Cribriform Morular Variant of Papillary Thyroid Carcinoma
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  • Update on the cytologic features of papillary thyroid carcinoma variants
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  • BRAF-positive paucicellular variant of anaplastic carcinoma in the presence of tall cell variant papillary thyroid cancer
    O. V. Dolzhansky, E. M. Paltseva, D. N. Khmelkova, F. A. Konovalov, I. V. Kanivets, A. V. Lavrov, D. V. Pyankov, S. A. Korostelev, O. A. Levendyuk, V. M. Pominalnaya, D. N. Fedorov
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  • A comparison of the clinicopathological features and prognoses of the classical and the tall cell variant of papillary thyroid cancer: a meta-analysis
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    Oncotarget.2017; 8(4): 6222.     CrossRef
  • Clinical utility of TERT promoter mutations and ALK rearrangement in thyroid cancer patients with a high prevalence of the BRAF V600E mutation
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    Diagnostic Pathology.2016;[Epub]     CrossRef
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    Oncotarget.2016; 7(26): 40792.     CrossRef
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JPTM : Journal of Pathology and Translational Medicine