Endocrinology and Metabolism

Original Articles

Thyroid
Frequency of TERT Promoter Mutations in Real-World Analysis of 2,092 Thyroid Carcinoma Patients: Heera Yang, Hyunju Park, Hyun Jin Ryu, Jung Heo, Jung-Sun Kim, Young Lyun Oh, Jun-Ho Choe, Jung Han Kim, Jee Soo Kim, Hye Won Jang, Tae Hyuk Kim, Sun Wook Kim, Jae Hoon Chung; Endocrinol Metab. 2022;37(4):652-663. Published online July 22, 2022; DOI: https://doi.org/10.3803/EnM.2022.1477

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Background
Telomerase reverse transcriptase (TERT) promoter mutations are associated with increased recurrence and mortality in patients with thyroid carcinoma. Previous studies on TERT promoter mutations were retrospectively conducted on a limited number of patients.
Methods
We prospectively collected data on all consecutive patients who underwent thyroid carcinoma surgery between January 2019 and December 2020 at the Samsung Medical Center, Seoul, Korea. We included 2,092 patients with thyroid carcinoma.
Results
Of 2,092 patients, 72 patients (3.4%) had TERT promoter mutations. However, the frequency of TERT promoter mutations was 0.5% in papillary thyroid microcarcinoma (PTMC) ≤1 cm and it was 5.8% in papillary thyroid carcinoma (PTC) >1 cm. The frequency of TERT promoter mutations was significantly associated with older age at diagnosis (odds ratio [OR], 1.12; P<0.001), larger primary tumor size (OR, 2.02; P<0.001), and aggressive histological type (OR, 7.78 in follicular thyroid carcinoma; OR, 10.33 in poorly differentiated thyroid carcinoma; OR, 45.92 in anaplastic thyroid carcinoma; P<0.001). Advanced T stage, advanced N stage, and distant metastasis at diagnosis were highly prevalent in mutated thyroid cancers. However, initial distant metastasis was not present in patients with TERT promoter mutations in PTMC. Although the C228T mutation was more highly detected than the C250T mutation (64 cases vs. 7 cases), there were no significant clinicopathological differences.
Conclusion
This study is the first attempt to investigate the frequency of TERT promoter mutations in a real-world setting. The frequency of TERT promoter mutations in PTC was lower than expected, and in PTMC, young patients, and female patients, the frequency was very low.

Citations

Citations to this article as recorded by

TERT Promoter Mutations Frequency Across Race, Sex, and Cancer Type
Talal El Zarif, Marc Machaalani, Rashad Nawfal, Amin H Nassar, Wanling Xie, Toni K Choueiri, Mark Pomerantz
The Oncologist.2024; 29(1): 8. CrossRef
Gene mutations as predictors of central lymph mode metastasis in cN0 PTC: A meta‐analysis
Jiaqi Ji, Xinlong Shi
Clinical Genetics.2024; 105(2): 130. CrossRef
Risk stratification by combining common genetic mutations and TERT promoter methylation in papillary thyroid cancer
Ye Sang, Guanghui Hu, Junyu Xue, Mengke Chen, Shubin Hong, Rengyun Liu
Endocrine.2024;[Epub] CrossRef
Shortened telomere length in peripheral blood leukocytes is associated with cumulative radioactive iodine doses in patients with differentiated thyroid carcinoma
Hoonsung Choi, Sun Wook Cho, Hwan Hee Kim, Ka Hee Yi, Do Joon Park, Young Joo Park
Cancer.2024;[Epub] CrossRef
Deciphering the Functions of Telomerase Reverse Transcriptase in Head and Neck Cancer
Tsung-Jang Yeh, Chi-Wen Luo, Jeng-Shiun Du, Chien-Tzu Huang, Min-Hung Wang, Tzer-Ming Chuang, Yuh-Ching Gau, Shih-Feng Cho, Yi-Chang Liu, Hui-Hua Hsiao, Li-Tzong Chen, Mei-Ren Pan, Hui-Ching Wang, Sin-Hua Moi
Biomedicines.2023; 11(3): 691. 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
Thyroid Cancer, Iodine, and Gene Mutation
Jae Hoon Chung
International Journal of Thyroidology.2023; 16(1): 89. CrossRef
Mortality rate and causes of death in papillary thyroid microcarcinoma
Jung Heo, Hyun Jin Ryu, Hyunju Park, Tae Hyuk Kim, Sun Wook Kim, Young Lyun Oh, Jae Hoon Chung
Endocrine.2023; 83(3): 671. CrossRef
TERT promoter mutations in thyroid cancer
Michiko Matsuse, Norisato Mitsutake
Endocrine Journal.2023; 70(11): 1035. 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.)
Hyunju Park, Jae Hoon Chung
Endocrinology and Metabolism.2022; 37(6): 949. 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

Reduction of Central Dopamine Release in Hyperprolactinemia.: Bong Soo Cha, Young Duk Song, Sung Kil Lim, Kyung Rae Kim, Hyun Chul Lee, Kap Bum Huh, Su Youn Nam, Eun Jig Lee, Bong Chul Chung, Jung Han Kim, Sei Chang Oh; J Korean Endocr Soc. 1996;11(3):277-284. Published online November 7, 2019

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Abstract PDF: Background
Prolactin(PRL) secretion is tonically inhibited by doparnine that originates from the hypothalamic tuberoinfundibular tract and reaches the lactotroph via the hypophyseal portal vessel. Hyperprolactinemia associated with oligomenorrhea-amenorrhea, galactorrhea and/or infertility is mainly due to PRL-secreting pituitary adenoma(PA). The diagnosis of idiopathic hyperprolac- tinemia(IHP) is made, when hyperprolactinemia is sustained and all causes of hyperprolactinemia are excluded without radiological abnormality. It is not known, whether IHP and PA are two distinct entities or two subsequent phases of the same disease. The etiology of both disorders remains unresolved. We investigated that PRL hypersecretion in patients with IHP and PA may be the result of a defect in the central nervous system(CNS)-dopamine release, and that there may be some differences in pathogenesis of both diseases. Methods: We measured 24 hour-urinary dopamine, norepinephrine, epinephrine, and serum and 24 hour-urinary VMA(vanillyl rnandelic acid), HVA(homovanilic acid), DOPAC(3,4-dihydroxy phenylaceticacid), MHPG(3-methoxy 4-hydroxy phenylglycol) in 10 normal controls, 9 patients with IHP, and 17 patients with PA in the early follicular phase. Results: Urinary HVA and DOPAC concentrations, the major metabolites of CNS dopaminergic activity, were signficantly lower in both patients with IHP and PA compared with those in normal controls(p 0.05), whereas they were not different in both disease groups. Dopamine, norepine-phrine, epinephrine, MHPG concentrations were similar to those of the normal controls. Although VMA concentrations of both disease groups were significantly higher than those of normal controls, all of them were within normal range. Conelusion: Although our data are unable to establish the precise biochemical defect responsible for central dopamine deficiency in pathogensis of IHP and PA, we can support the presence of a pathological reduction of brain dopamine activity in IHP and PA.

Case Report

Adrenal gland
Adult Multisystem Langerhans Cell Histiocytosis Presenting with Central Diabetes Insipidus Successfully Treated with Chemotherapy: Jung-Eun Choi, Hae Ri Lee, Jung Hun Ohn, Min Kyong Moon, Juri Park, Seong Jin Lee, Moon-Gi Choi, Hyung Joon Yoo, Jung Han Kim, Eun-Gyoung Hong; Endocrinol Metab. 2014;29(3):394-399. Published online September 25, 2014; DOI: https://doi.org/10.3803/EnM.2014.29.3.394

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We report the rare case of an adult who was diagnosed with recurrent multisystem Langerhans cell histiocytosis (LCH) involving the pituitary stalk and lung who present with central diabetes insipidus and was successfully treated with systemic steroids and chemotherapy. A 49-year-old man visited our hospital due to symptoms of polydipsia and polyuria that started 1 month prior. Two years prior to presentation, he underwent excision of right 6th and 7th rib lesions for the osteolytic lesion and chest pain, which were later confirmed to be LCH on pathology. After admission, the water deprivation test was done and the result indicated that he had central diabetes insipidus. Sella magnetic resonance imaging showed a mass on the pituitary stalk with loss of normal bright spot at the posterior lobe of the pituitary. Multiple patchy infiltrations were detected in both lung fields by computed tomography (CT). He was diagnosed with recurrent LCH and was subsequently treated with inhaled desmopressin, systemic steroids, vinblastine, and mercaptopurine. The pituitary mass disappeared after two months and both lungs were clear on chest CT after 11 months. Although clinical remission in multisystem LCH in adults is reportedly rare, our case of adult-onset multisystem LCH was treated successfully with systemic chemotherapy using prednisolone, vinblastine, and 6-mercaptopurine, which was well tolerated.

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Pulmonary Langerhans Cell Histiocytosis in an Adult Male Presenting with Central Diabetes Insipidus and Diabetes Mellitus: A Case Report
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Tuberculosis and Respiratory Diseases.2015; 78(4): 463. CrossRef
Adult-onset Langerhans cell histiocytosis presenting with adipsic diabetes insipidus, diabetes mellitus and hypopituitarism: A case report and review of literature
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Journal of Clinical and Translational Endocrinology: Case Reports.2015; 1(1): 1. CrossRef

Review Article

Revised Korean Thyroid Association Management Guidelines for Patients with Thyroid Nodules and Thyroid Cancer.: Ka Hee Yi, Young Joo Park, Sung Soo Koong, Jung Han Kim, Dong Gyu Na, Jin Sook Ryu, So Yeon Park, In Ae Park, Chung Hwan Baek, Young Kee Shong, Young Don Lee, Jaetae Lee, Jeong Hyun Lee, Jae Hoon Chung, Chan Kwon Jung, Seung Ho Choi, Bo Youn Cho; Endocrinol Metab. 2010;25(4):270-297. Published online December 1, 2010; DOI: https://doi.org/10.3803/EnM.2010.25.4.270

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No abstract available.

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Original Article

Clinical Differences between Classic Papillary Thyroid Carcinoma and Variants.: Ji Young Park, Ji In Lee, Alice Hyun Kyung Tan, Hye Won Jang, Hyun Won Shin, Young Lyun Oh, Jung Hee Shin, Jung Han Kim, Ji Soo Kim, Young Ik Son, Sun Wook Kim, Jae Hoon Chung; J Korean Endocr Soc. 2009;24(3):165-173. Published online September 1, 2009; DOI: https://doi.org/10.3803/jkes.2009.24.3.165

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Abstract PDF

BACKGROUND
The outcomes of papillary thyroid carcinoma (PTC) variants have been described in a limited number of studies. The purpose of this study was to compare patient outcomes of PTC variants with those of patients with classic PTC. METHODS: A single-institution retrospective analysis was performed to review 2,366 patients with classic PTC and 159 patients with PTC variants diagnosed between 1994 and 2004. PTC variant patients were divided into two groups, favorable (n = 119, 119 follicular variants including 14 encapsulated follicular variants) and aggressive (n = 40, including 13 diffuse sclerosing, 11 tall cell, six solid, six oncocytic, and four columnar cell variants). RESULTS: Compared with classic PTC, the favorable and aggressive variants had a significantly larger tumor size (P<0.001). The favorable variants had significantly lower rates of bilaterality, multifocality, extrathyroidal invasion, cervical lymph node metastasis, stage III and IV disease, and greater male to female ratio (P<0.05). In particular, the encapsulated follicular variant showed no bilaterality, multifocality, extrathyroidal invasion, lymph node metastasis, and distant metastasis. However, the disease-specific survival and recurrence-free survival of patients with favorable PTC were not different from the patients with classic PTC. The aggressive variants had significantly higher rates of bilaterality and cervical lymph node metastasis compared to the classic PTC (P<0.05). They had significantly reduced disease-specific survival and recurrence-free survival rates (P<0.01). CONCLUSIONS: Knowledge of the nature of PTC variants, especially aggressive types, is important in predicting patient outcome and providing appropriate treatment. Further study is needed to better understand PTC variants.

Citations

Citations to this article as recorded by

Ultrasonographic Characteristics of the Follicular Variant Papillary Thyroid Cancer According to the Tumor Size
Eon Ju Jeon, Young Ju Jeong, Sung Hwan Park, Chang Ho Cho, Ho Sang Shon, Eui Dal Jung
Journal of Korean Medical Science.2016; 31(3): 397. CrossRef
Follicular Variant of Papillary Thyroid Carcinoma: Distinct Biologic Behavior Based on Ultrasonographic Features
Sun Jung Rhee, Soo Yeon Hahn, Eun Sook Ko, Jae Wook Ryu, Eun Young Ko, Jung Hee Shin
Thyroid.2014; 24(4): 683. CrossRef

Case Report

Solitary Papillary Thyroid Microcarcinoma (0.3 cm in Diameter) Presenting Multiple Distant Metastases at the Time of Diagnosis.: Tae Hyun Kim, Jung Han Kim, Young Lyun Oh, You Cheol Hwang, Jung Hwa Jung, Hye Seung Jung, Mira Kang, Yong Ki Min, Myung Shik Lee, Moon Kyu Lee, Kwang Won Kim, Jae Hoon Chung; J Korean Endocr Soc. 2007;22(4):287-291. Published online August 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.4.287

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Abstract PDF

Papillary thyroid microcarcinoma (PTMC) is defined as being 1 cm or less in diameter. Although the prognosis of PTMC is known to be more favorable than that of papillary thyroid carcinoma greater than 1 cm in diameter, pathologic factors suggesting aggressiveness, such as multifocality and lymph node invasion, have been reported to be highly prevalent in PTMC. However, the rate of distant metastasis in patients with PTMC is very low. Many investigators have reported that initial distant metastasis was detected only in patients with PTMC greater than 0.4 cm in diameter, however these cases have involved only one organ, usually the lung. We report here on an extremely unusual case of solitary PTMC (0.3 cm in diameter) presenting multiple distant metastases at the time of diagnosis.

Citations

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Clinico-pathologic Characteristics of the Primary Thyroid Cancer in Patients with Breast Cancer
Hyun Won Shin, Hye Won Jang, Ji Young Park, Jae Hoon Chung, Young-Ki Min, Myung-Shik Lee, Moon-Kyu Lee, Kwang-Won Kim, Sun Wook Kim
Journal of Korean Endocrine Society.2009; 24(4): 240. CrossRef

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