- Highly prevalent BRAF V600E and low-frequency TERT promoter mutations underlie papillary thyroid carcinoma in Koreans
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Sue Youn Kim, Taeeun Kim, Kwangsoon Kim, Ja Seong Bae, Jeong Soo Kim, Chan Kwon Jung
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J Pathol Transl Med. 2020;54(4):310-317. Published online June 15, 2020
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DOI: https://doi.org/10.4132/jptm.2020.05.12
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Abstract
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- 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.
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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
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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
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Korean J Pathol. 2014;48(3):201-208. Published online June 26, 2014
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DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.3.201
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14,115
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Abstract
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- 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). MethodsWe 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. ResultsTCVPTCs 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). ConclusionsClassic PTCs with TCF showed a similar BRAF mutation rate and clinicopathologic features to TCVPTCs, but more aggressive characteristics than classic PTCs.
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Citations
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