Endocrinology and Metabolism

Seonhee Lim (Lim S)

2 Articles

Clinical Study
Low Prevalence of Somatic TERT Promoter Mutations in Classic Papillary Thyroid Carcinoma: Min Ji Jeon, Won Gu Kim, Soyoung Sim, Seonhee Lim, Hyemi Kwon, Tae Yong Kim, Young Kee Shong, Won Bae Kim; Endocrinol Metab. 2016;31(1):100-104. Published online March 16, 2016; DOI: https://doi.org/10.3803/EnM.2016.31.1.100

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32 Download
16 Web of Science
15 Crossref

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).

Methods

Genomic 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.

Results

The 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.

Conclusion

The 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.

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
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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
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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: 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; Endocrinol Metab. 2016;31(1):142-146. Published online March 16, 2016; DOI: https://doi.org/10.3803/EnM.2016.31.1.142

3,740 View
38 Download
4 Web of Science
4 Crossref

Abstract PDF PubReader

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.

Methods

This 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.

Results

The 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).

Conclusion

The polymorphisms in the ADRB2, AR, and GABRA3 genes could not explain the genetic susceptibility to TPP in Korean men with GD.

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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