- Clinical Study
- Low Prevalence of Somatic TERT Promoter Mutations in Classic Papillary Thyroid Carcinoma
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Min Ji Jeon, Won Gu Kim, Soyoung Sim, Seonhee Lim, Hyemi Kwon, Tae Yong Kim, Young Kee Shong, Won Bae Kim
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Endocrinol Metab. 2016;31(1):100-104. Published online March 16, 2016
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DOI: https://doi.org/10.3803/EnM.2016.31.1.100
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Abstract
PDFPubReader
- Background
Transcriptional activating mutations of telomerase reverse transcriptase (TERT) are associated with more aggressive thyroid cancer. We evaluated the significance of TERT promoter mutations in Korean patients with classic papillary thyroid cancer (PTC). MethodsGenomic DNA was isolated from four thyroid cancer cell lines and 35 fresh-frozen PTC tissues. TERT promoter mutations (C228T and C250T) and the BRAF V600E mutation were evaluated by polymerase chain reaction amplification and direct sequencing. ResultsThe CC228229TT mutation in the TERT promoter was detected in BCPAP cells and the C250T mutation was found in 8505C cells. No TERT promoter mutation was observed in Cal-62 or ML-1 cells. The C228T mutation was found in only 1 of 35 (2.8%) PTCs and no C250T mutations were detected in any of the study subjects. The BRAF V600E mutation was found in 20 of 35 (57.1%) PTCs. One patient with the C228T TERT mutation also harbored the BRAF V600E mutation and developed a recurrence. ConclusionThe prevalence of somatic TERT promoter mutations was low in Korean patients with classic PTC. Therefore, the prognostic role of TERT promoter mutations might be limited in this patient cohort.
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Citations
Citations to this article as recorded by
- Risk Factors for TERT Promoter Mutations with Papillary Thyroid Carcinoma Patients: A Meta-Analysis and Systematic Review
Jingxin Mao, Xingliang Huang, Mohammad K. Okla, Mostafa A. Abdel-Maksoud, Ayman Mubarak, Zahid Hameed, Razia Noreen, Aqsa Chaudhary, Shakira Ghazanfar, Yixuan Liao, Yasir Hameed, Chen Li, Min Tang Computational and Mathematical Methods in Medicine.2022; 2022: 1. CrossRef - Telomerase reverse transcriptase promoter mutations in cancers derived from multiple organ sites among middle eastern population
Abdul K. Siraj, Rong Bu, Kaleem Iqbal, Sandeep Kumar Parvathareddy, Nabil Siraj, Sarah Siraj, Mark Ranier F. Diaz, Dionne Rae Rala, Allianah D. Benito, Maria Angelita Sabido, Maha Al-Rasheed, Khadija A.S. Al-Obaisi, Wael Al-Haqawi, Ingrid G. Victoria, Waf Genomics.2020; 112(2): 1746. CrossRef - Association between TERT promoter mutations and clinical behaviors in differentiated thyroid carcinoma: a systematic review and meta-analysis
Jing Yang, Yanping Gong, Shuping Yan, Hui Chen, Siqin Qin, Rixiang Gong Endocrine.2020; 67(1): 44. CrossRef - The Combination of RET, BRAF and Demographic Data Identifies Subsets of Patients with Aggressive Papillary Thyroid Cancer
Jose R. W. Martínez, Sergio Vargas-Salas, Soledad Urra Gamboa, Estefanía Muñoz, José Miguel Domínguez, Augusto León, Nicolás Droppelmann, Antonieta Solar, Mark Zafereo, F. Christopher Holsinger, Hernán E. González Hormones and Cancer.2019; 10(2-3): 97. CrossRef - Correlation between TERT C228T and clinic-pathological features in pediatric papillary thyroid carcinoma
Jiangqiao Geng, Yuanhu Liu, Yongli Guo, Huanmin Wang, Jun Tai, Yaqiong Jin, Jie Zhang, Yongbo Yu, Shengcai Wang, Yingluan Song, Xin Ni Science China Life Sciences.2019; 62(12): 1563. CrossRef - Human telomerase reverse transcriptase in papillary thyroid cancer: gene expression, effects of silencing and regulation by BET inhibitors in thyroid cancer cells
Valentina Maggisano, Marilena Celano, Saverio Massimo Lepore, Marialuisa Sponziello, Francesca Rosignolo, Valeria Pecce, Antonella Verrienti, Federica Baldan, Catia Mio, Lorenzo Allegri, Marianna Maranghi, Rosa Falcone, Giuseppe Damante, Diego Russo, Stef Endocrine.2019; 63(3): 545. CrossRef - BRAF and RAS Mutational Status in Noninvasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features and Invasive Subtype of Encapsulated Follicular Variant of Papillary Thyroid Carcinoma in Korea
Mijin Kim, Min Ji Jeon, Hye-Seon Oh, Suyeon Park, Tae Yong Kim, Young Kee Shong, Won Bae Kim, Kyunggon Kim, Won Gu Kim, Dong Eun Song Thyroid.2018; 28(4): 504. CrossRef - The role of TERT promoter mutations in postoperative and preoperative diagnosis and prognosis in thyroid cancer
Anqi Jin, Jianhao Xu, Yan Wang Medicine.2018; 97(29): e11548. CrossRef - Telomere Maintenance Mechanisms in Cancer
Tiago Bordeira Gaspar, Ana Sá, José Manuel Lopes, Manuel Sobrinho-Simões, Paula Soares, João Vinagre Genes.2018; 9(5): 241. CrossRef - Anti-hTERT siRNA-Loaded Nanoparticles Block the Growth of Anaplastic Thyroid Cancer Xenograft
Giovanni E. Lombardo, Valentina Maggisano, Marilena Celano, Donato Cosco, Chiara Mignogna, Federica Baldan, Saverio M. Lepore, Lorenzo Allegri, Sonia Moretti, Cosimo Durante, Giuseppe Damante, Massimo Fresta, Diego Russo, Stefania Bulotta, Efisio Puxeddu Molecular Cancer Therapeutics.2018; 17(6): 1187. CrossRef - Silencing of hTERT blocks growth and migration of anaplastic thyroid cancer cells
Valentina Maggisano, Marilena Celano, Giovanni Enrico Lombardo, Saverio Massimo Lepore, Marialuisa Sponziello, Francesca Rosignolo, Antonella Verrienti, Federica Baldan, Efisio Puxeddu, Cosimo Durante, Sebastiano Filetti, Giuseppe Damante, Diego Russo, St Molecular and Cellular Endocrinology.2017; 448: 34. CrossRef - Articles inEndocrinology and Metabolismin 2016
Won-Young Lee Endocrinology and Metabolism.2017; 32(1): 62. CrossRef - Telomerase: The Devil Inside
Mukesh Kumar, Andre Lechel, Çagatay Güneş Genes.2016; 7(8): 43. CrossRef - Cancer-Specific Telomerase Reverse Transcriptase (TERT) Promoter Mutations: Biological and Clinical Implications
Tiantian Liu, Xiaotian Yuan, Dawei Xu Genes.2016; 7(7): 38. CrossRef - Transcription Regulation of the Human Telomerase Reverse Transcriptase (hTERT) Gene
Muhammad Ramlee, Jing Wang, Wei Toh, Shang Li Genes.2016; 7(8): 50. CrossRef
- Clinical Study
- Thyrotoxic Periodic Paralysis and Polymorphisms of the ADRB2, AR, and GABRA3 Genes in Men with Graves Disease
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Suyeon Park, Tae Yong Kim, Soyoung Sim, Seonhee Lim, Mijin Kim, Hyemi Kwon, Min Ji Jeon, Won Gu Kim, Young Kee Shong, Won Bae Kim
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Endocrinol Metab. 2016;31(1):142-146. Published online March 16, 2016
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DOI: https://doi.org/10.3803/EnM.2016.31.1.142
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3,760
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Abstract
PDFPubReader
- Background
Thyrotoxic periodic paralysis (TPP) is a rare complication of thyrotoxicosis characterized by acute attacks of muscle weakness and hypokalemia. Recently, variation in several genes was suggested to be associated with TPP. This study evaluated the genetic predisposition to TPP in terms of the β2-adrenergic receptor (ADRB2), androgen receptor (AR), and γ-aminobutyric acid receptor α3 subunit (GABRA3) genes. MethodsThis study enrolled 48 men with Graves disease (GD) and TPP, and 48 GD patients without TPP. We compared the frequencies of candidate polymorphisms between the two groups. ResultsThe frequency of the Gly16/Gly16 genotype in ADRB2 was not significantly associated with TPP (P=0.32). More CAG repeats (≥26) in the AR gene were not correlated with TPP (odds ratio [OR], 2.46; 95% confidence interval [CI], 0.81 to 8.09; P=0.08). The allele frequency of the TT genotype in the GABRA3 gene was not associated with TPP (OR, 1.83; 95% CI, 0.54 to 6.74; P=0.41). ConclusionThe polymorphisms in the ADRB2, AR, and GABRA3 genes could not explain the genetic susceptibility to TPP in Korean men with GD.
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Citations
Citations to this article as recorded by
- RNASET2,GPR174, and PTPN22 gene polymorphisms are related to the risk of liver damage associated with the hyperthyroidism in patients with Graves’ disease
Qing Zhang, Shaozheng Liu, Yanxing Guan, Qingjie Chen, Qing Zhang, Xiang Min Journal of Clinical Laboratory Analysis.2018;[Epub] CrossRef - Articles inEndocrinology and Metabolismin 2016
Won-Young Lee Endocrinology and Metabolism.2017; 32(1): 62. CrossRef - Periodic Paralysis and Encephalopathy as Initial Manifestations of Graves’ Disease
Theocharis Tsironis, Athanasios Tychalas, Dimitrios Kiourtidis, Jannis Kountouras, Georgia Xiromerisiou, Jobst Rudolf, Georgia Deretzi The Neurologist.2017; 22(4): 134. CrossRef - Thyrotoxic periodic paralysis
Zdeněk Doležel, Dana Novotná, Helena Schneiderová, Jan Papež, Martin Jouza Pediatrie pro praxi.2016; 17(6): 379. CrossRef
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