Endocrinology and Metabolism

Original Article

Thyroid
Prognostic Indicators and Comparative Treatment Outcomes in High-Risk Thyroid Cancer with Laryngotracheal Invasion: Eman A. Toraih, Jessan A. Jishu, Mohammad H. Hussein, Aly A. M. Shaalan, Manal S. Fawzy, Emad Kandil; Endocrinol Metab. 2025;40(2):201-215. Published online January 22, 2025; DOI: https://doi.org/10.3803/EnM.2024.2033

1,006 View
58 Download

Abstract PDF Supplementary Material PubReader ePub: Background
Laryngotracheal invasion occurs in a subset of patients with well-differentiated thyroid cancer (WDTC) and is associated with a poor prognosis. We aimed to analyze patterns and predictors/outcomes related to this high-risk manifestation.
Methods
This population-based analysis utilized the Surveillance, Epidemiology, and End Results (SEER) registry (2000 to 2015) to identify WDTC patients. Temporal trends and geographic variation in invasion rates were assessed. Logistic regression and propensity score matching were employed to identify predictors of secondary malignancy, mortality, and treatment impact on overall and thyroid cancer (TC)-specific survival.
Results
Of 131,721 WDTC patients, 1,662 (1.3%) had tracheal invasion and 976 (0.7%) had laryngeal invasion at diagnosis. Tracheal and laryngeal invasion rates declined from 3.7%–0.7% and 1.5%–0.6%, respectively, from 2000 to 2015. Compared to 98,835 noninvasive cases, patients with laryngotracheal invasion were older and more often male, Asian, and Hispanic (all P<0.001). This group had larger tumors with higher rates of nodal (N1: 61.8% vs. 15.1%) and distant metastases (M1: 9.3% vs. 0.4%). Age ≥55 years (hazard ratio [HR], 1.19; P=0.004) and metastases (HR, 1.75; P<0.001) increased TC-specific mortality, whereas the converse pattern was found for Asian race (HR, 0.63; P=0.002) and surgery (HR, 0.35; P<0.001). In rigorously matched groups to control confounding, adding radioactive iodine to surgery reduced mortality by 30% (P<0.001). However, external beam radiation and systemic therapy did not improve survival over surgery alone.
Conclusion
Laryngotracheal invasion is present in 0.7% to 1.3% of cases, conferring over double the mortality risk. Radioactive iodine with surgery improves outcomes in this aggressive WDTC subset.

Review Articles

Hypothalamus and pituitary gland
Elucidating Clinical Queries for Tailored Therapy in Patients with Prolactinoma: Min-Ho Lee, Jae Won Hong, Kyungwon Kim, Cheol Ryong Ku, Eun Jig Lee; Endocrinol Metab. 2024;39(6):819-826. Published online October 14, 2024; DOI: https://doi.org/10.3803/EnM.2024.2057

2,461 View
134 Download
1 Web of Science
1 Crossref

Abstract PDF PubReader ePub

Prolactinomas are the most prevalent type of pituitary neuroendocrine adenomas, primarily affecting women of reproductive age. Unlike other pituitary tumors, the first-line management has traditionally been pharmacological rather than surgical. This preference is due to the effectiveness of dopamine agonists (DAs), which typically reduce tumor size and normalize prolactin levels in most patients. However, this does not imply that there is no room for improvement; the duration of treatment and medication side effects often lead to compliance issues among patients. Recent advances in surgical techniques and molecular biology have paved the way for the development of precision medicine, allowing for more flexible and personalized treatment strategies for prolactinomas. This review aims to enhance clinical decision-making and patient care for endocrinologists by focusing on several key factors: predictive markers of DA sensitivity, clinical characteristics and suitability for transsphenoidal adenomectomy as a potential first-line treatment, factors determining the successful withdrawal of DAs after prolonged use, safety concerns during pre/post-pregnancy and breastfeeding, and determinants of tumor aggressiveness. Through tailored therapy—a patient-focused, multidisciplinary approach— we aim to improve the management of prolactinoma patients.

Citations

Citations to this article as recorded by

When to embark on surgery for prolactin-secreting pituitary adenoma?
Nazmin Ahmed, Subodh Gautam, Bipin Chaurasia
Annals of Medicine & Surgery.2025; 87(4): 1798. CrossRef

Diabetes, obesity and metabolism
Young-Onset Diabetes in East Asians: From Epidemiology to Precision Medicine: Juliana C.N. Chan, Chun-Kwan O, Andrea O.Y. Luk; Endocrinol Metab. 2024;39(2):239-254. Published online April 16, 2024; DOI: https://doi.org/10.3803/EnM.2024.1968

5,919 View
249 Download
4 Web of Science
4 Crossref

Abstract PDF PubReader ePub

Precision diagnosis is the keystone of clinical medicine. In East Asians, classical type 1 diabetes is uncommon in patients with youngonset diabetes diagnosed before age of 40, in whom a family history, obesity, and beta-cell and kidney dysfunction are key features. Young-onset diabetes affects one in five Asian adults with diabetes in clinic settings; however, it is often misclassified, resulting in delayed or non-targeted treatment. Complex aetiologies, long disease duration, aggressive clinical course, and a lack of evidence-based guidelines have contributed to variable care standards and premature death in these young patients. The high burden of comorbidities, notably mental illness, highlights the numerous knowledge gaps related to this silent killer. The majority of adult patients with youngonset diabetes are managed as part of a heterogeneous population of patients with various ages of diagnosis. A multidisciplinary care team led by physicians with special interest in young-onset diabetes will help improve the precision of diagnosis and address their physical, mental, and behavioral health. To this end, payors, planners, and providers need to align and re-design the practice environment to gather data systematically during routine practice to elucidate the multicausality of young-onset diabetes, treat to multiple targets, and improve outcomes in these vulnerable individuals.

Citations

Citations to this article as recorded by

Type 2 diabetes: a contemporary view from the Asian lens
Jeyakantha Ratnasingam, Quan Hziung Lim, Siew Pheng Chan
Current Opinion in Endocrinology, Diabetes & Obesity.2025; 32(1): 20. CrossRef
Diabetes Fact Sheets in Korea 2024
Se Eun Park, Seung-Hyun Ko, Ji Yoon Kim, Kyuho Kim, Joon Ho Moon, Nam Hoon Kim, Kyung Do Han, Sung Hee Choi, Bong Soo Cha
Diabetes & Metabolism Journal.2025; 49(1): 24. CrossRef
Development and Validation of the Patient-Level Chinese Diabetes Outcome Model on Long-term Complications in Type 2 Diabetes: An Application of the Hong Kong Diabetes Register
Eric S.H. Lau, Andrea O.Y. Luk, Lee-Ling Lim, Hongjiang Wu, Aimin Yang, Alice P.S. Kong, Ronald C.W. Ma, Risa Ozaki, Elaine Y.K. Chow, Chiu-Chi Tsang, Chun-Kwun O, Amy Fu, Edward W. Gregg, Philip Clarke, Wing-Yee So, Juliana N.M. Lui, Juliana C.N. Chan
Diabetes Care.2025; 48(4): 579. CrossRef
Genetic Predisposition to Prediabetes in the Kazakh Population
Gulnara Svyatova, Galina Berezina, Alexandra Murtazaliyeva, Altay Dyussupov, Tatyana Belyayeva, Raida Faizova, Azhar Dyussupova
Current Issues in Molecular Biology.2024; 46(10): 10913. CrossRef

Thyroid
Current Guidelines for Management of Medullary Thyroid Carcinoma: Mijin Kim, Bo Hyun Kim; Endocrinol Metab. 2021;36(3):514-524. Published online June 22, 2021; DOI: https://doi.org/10.3803/EnM.2021.1082

28,728 View
2,313 Download
55 Web of Science
56 Crossref

Abstract PDF PubReader ePub

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor originating from the parafollicular cells. The diagnostic and therapeutic strategies for the condition are different from those used for well-differentiated thyroid cancer. Since the 2015 American Thyroid Association guidelines for the diagnosis and treatment of MTC, the latest, including the National Comprehensive Cancer Network and European Association for Medical Oncology guidelines have been updated to reflect several recent advances in the management of MTC. Advances in molecular diagnosis and postoperative risk stratification systems have led to individualized treatment and follow-up strategies. Multi-kinase inhibitors, such as vandetanib and cabozantinib, can prolong disease progression-free survival with favorable adverse effects. In addition, potent selective rearranged during transfection (RET) inhibitors (selpercatinib and pralsetinib) have shown a promising efficacy in recent clinical trials. This review summarizes the management of MTC in recent guidelines focused on sporadic MTC.

Citations

Citations to this article as recorded by

Is desmoplastic stromal reaction useful to modulate lymph node dissection in sporadic medullary thyroid carcinoma?
Priscilla Francesca Procopio, Francesco Pennestrì, Nikolaos Voloudakis, Stefania La Rocca, Pierpaolo Gallucci, Esther Diana Rossi, Carmela De Crea, Marco Raffaelli
Surgery.2025; 177: 108881. CrossRef
Thyrotoxicosis With Medullary Thyroid Carcinoma: A Rare Endocrine Diagnostic Challenge
G Balamurugan, N Selvaraj, Sahana Kannan
Cureus.2025;[Epub] CrossRef
Simultaneous Medullary and Papillary Thyroid Carcinomas: Personal Experience Report and Literature Review
Nadia De Falco, Massimo Agresti, Massimo De Falco, Pasquale Sperlongano, Giancarlo Moccia, Pasquale Luongo, Alessio Cece, Francesco Bove, Francesco Miele, Alfredo Allaria, Francesco Torelli, Paola Bassi, Antonella Sciarra, Stefano Avenia, Paola Della Moni
Journal of Clinical Medicine.2025; 14(4): 1382. CrossRef
Synchronous thyroid medullary cancer and thyroid hemiagenesis: A case report
Chunyang Li, Chengbin Zhang, Chao Ma, Yonghui Wang, Quanhong Duan
Experimental and Therapeutic Medicine.2025; 29(4): 1. CrossRef
Diagnosis and treatment of a rare bilateral primary thyroid cancer: a case report
Hai Lin, Xinyu Zhang, Na Yan, Tao Guo, Qiu Chen, Xianen Huang, Dandan Wang, Weili Wu
Frontiers in Oncology.2025;[Epub] CrossRef
Celastrol promotes apoptotic cell death in thyroid cancer cells through a caspases-dependent pathway
Ruoyi Yang, Jie Yao, Hong Ma, Chunyan Shui, Teng Li, Sicheng Zhang, Chao Li
Thyroid Research.2025;[Epub] CrossRef
Inhibitory effect of luteolin on the metabolism of vandetanib in vivo and in vitro
Yuxin Shen, Fengsheng Hong, Hualu Wu, Xiaohai Chen, Hailun Xia, Ren-ai Xu, Guanyang Lin, Lu Shi
Frontiers in Pharmacology.2025;[Epub] CrossRef
Molecular oncology of iodine refractory thyroid cancer current therapies and perspective
François Cherifi, Ahmad Awada
Critical Reviews in Oncology/Hematology.2025; 209: 104679. CrossRef
Photodynamic Therapy for Thyroid Cancer
Julia Inglot, Joanna Katarzyna Strzelczyk, Dorota Bartusik-Aebisher, David Aebisher
BioMed.2025; 5(1): 8. CrossRef
The Revolution of Targeted Therapies in Thyroid Cancer Treatment: Present and Future Promising Anti-Cancer Drugs
Sara Gil-Bernabé, Lucía García-DeLaFuente, Ginesa García-Rostán
International Journal of Molecular Sciences.2025; 26(8): 3663. CrossRef
A case of medullary thyroid carcinoma with “Spongiform” nodule appearance on ultrasound
Xue-Yang Ji, Zeng-Gang Hu, Ke-Xiao Mu, Nian-Yu Xue
Asian Journal of Surgery.2025;[Epub] CrossRef
Molecular imaging and related therapeutic options for medullary thyroid carcinoma: state of the art and future opportunities
Alessio Imperiale, Valentina Berti, Mickaël Burgy, Roberto Luigi Cazzato, Arnoldo Piccardo, Giorgio Treglia
Reviews in Endocrine and Metabolic Disorders.2024; 25(1): 187. CrossRef
Diffuse C-Cells Hyperplasia Is the Source of False Positive Calcitonin Measurement in FNA Washout Fluids of Thyroid Nodules: A Rational Clinical Approach to Avoiding Unnecessary Surgery
Chiara Mura, Rossella Rodia, Silvia Corrias, Antonello Cappai, Maria Letizia Lai, Gian Luigi Canu, Fabio Medas, Pietro Giorgio Calò, Stefano Mariotti, Francesco Boi
Cancers.2024; 16(1): 210. CrossRef
Meta-Analysis of the Efficacy and Safety Evaluation of Vandetanib in the Treatment of Medullary Thyroid Cancer
Tong-cheng Xian, Min-ye Yang, Xue-lin Zhang, Jie Wang, Yi Luo
Hormone and Metabolic Research.2024; 56(09): 649. CrossRef
Successful localisation of recurrent thyroid cancer using preoperative patent blue dye injection
B. O. Evranos, N. Ince, H. Ataş, S. B. Polat, H. Ahsen, N. N. Imga, A. Dirikoc, O. Topaloglu, T. Tutuncu, R. Ersoy, B. Cakir
Journal of Endocrinological Investigation.2024; 47(8): 1941. CrossRef
Current and future of immunotherapy for thyroid cancer based on bibliometrics and clinical trials
Ke Wang, Ying Zhang, Yang Xing, Hong Wang, Minghua He, Rui Guo
Discover Oncology.2024;[Epub] CrossRef
Combining radiomics with thyroid imaging reporting and data system to predict lateral cervical lymph node metastases in medullary thyroid cancer
Zhiqiang Liu, Xiwei Zhang, Xiaohui Zhao, Qianqian Guo, Zhengjiang Li, Minghui Wei, Lijuan Niu, Changming An
BMC Medical Imaging.2024;[Epub] CrossRef
Potentials and future perspectives of multi-target drugs in cancer treatment: the next generation anti-cancer agents
Ali Doostmohammadi, Hossein Jooya, Kimia Ghorbanian, Sargol Gohari, Mehdi Dadashpour
Cell Communication and Signaling.2024;[Epub] CrossRef
Diagnostic capabilities of PET/CT with ¹⁸F-DOPA in biochemical recurrence of medullary thyroid carcinoma: a retrospective study
N. V. Tsentr, A. A. Zyryanova, M. A. Rusnak, D. V. Ryzhkova
Diagnostic radiology and radiotherapy.2024; 15(1): 87. CrossRef
LINC00887 Acts as an Enhancer RNA to Promote Medullary Thyroid Carcinoma Progression by Binding with FOXQ1
Daxiang Liu, Wenjing Wang, Yanzhao Wu, Yongle Qiu, Lan Zhang
Current Cancer Drug Targets.2024; 24(5): 519. CrossRef
Spontaneous and Treatment-Related Changes of Serum Calcitonin in Medullary Thyroid Cancer: Long-Term Experience in a Patient With Multiple Endocrine Neoplasia Type 2B
Zsuzsanna Réti, Ádám Gy. Tabák, Miklós Garami, Ildikó Kalina, Gergely Kiss, Zoltán Sápi, Miklós Tóth, Judit Tőke
JCO Precision Oncology.2024;[Epub] CrossRef
False-Negative 68Ga-FAPI PET/CT in Pediatric Thyroid Medullary Carcinoma Seen With 68Ga-DOTATOC PET/CT and 18F-FDG PET/CT
Mohamad B. Haidar, Farah A. Abou Zeid, Zarouhie Z. Meguerian, Akram N. Al-Ibraheem, Peter E. Noun
Clinical Nuclear Medicine.2024; 49(7): 690. CrossRef
B7-H3 and ICAM-1 are potentially therapeutic targets for thyroid carcinoma
Pengtao Song, Yongcan Xu, Guochao Ye
Diagnostic Pathology.2024;[Epub] CrossRef
Medullary thyroid carcinoma with ACHT-dependent Cushing's syndrome: Therapeutic possibilities
Dušan Ilić, Sanja Ognjanović, Bojana Popović, Valentina Elezović-Kovačević, Milica Opalić-Palibrk, Lena Radić, Katarina Krstić, Đuro Macut
Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma.2024; 29(93): 46. CrossRef
Treatment and management of medullary thyroid microcarcinoma: a 10-year retrospective study from a single center
Bin Liu, Ying Peng, Yanjun Su, Chang Diao, Ruochuan Cheng
Endocrine.2024; 86(3): 1081. CrossRef
Pancreas as an Unusual Metastatic Site of Medullary Thyroid Carcinoma: A Case of Very Long-term Follow-up Under Prolonged Treatment with Somatostatin Analogues
Salvatore Raia, Sabrina Chiloiro, Antonella Giampietro, Maria Grazia Maratta, Fabia Attili, Maria Gabriella Brizi, Vittoria Rufini, Laura De Marinis, Alfredo Pontecorvi, Guido Rindi, Giovanni Schinzari, Antonio Bianchi
Endocrine, Metabolic & Immune Disorders - Drug Targets.2024; 24(12): 1464. CrossRef
Holomics and Artificial Intelligence-Driven Precision Oncology for Medullary Thyroid Carcinoma: Addressing Challenges of a Rare and Aggressive Disease
Thifhelimbilu Emmanuel Luvhengo, Maeyane Stephens Moeng, Nosisa Thabile Sishuba, Malose Makgoka, Lusanda Jonas, Tshilidzi Godfrey Mamathuntsha, Thandanani Mbambo, Shingirai Brenda Kagodora, Zodwa Dlamini
Cancers.2024; 16(20): 3469. CrossRef
GLP-1 Receptor Agonists: A Promising Therapy for Modern Lifestyle Diseases with Unforeseen Challenges
Patrycja Kupnicka, Małgorzata Król, Justyna Żychowska, Ryszard Łagowski, Eryk Prajwos, Anna Surówka, Dariusz Chlubek
Pharmaceuticals.2024; 17(11): 1470. CrossRef
DLK1 Is Associated with Stemness Phenotype in Medullary Thyroid Carcinoma Cell Lines
Danilo Dias da Silva, Rodrigo Pinheiro Araldi, Mariana Rocha Belizario, Welbert Gomes Rocha, Rui Monteiro de Barros Maciel, Janete Maria Cerutti
International Journal of Molecular Sciences.2024; 25(22): 11924. CrossRef
Prognosis analysis and nomogram for predicting lateral lymph node metastasis in Medullary Thyroid Microcarcinoma
Jinming Zhang, Dongmei Huang, Ming Gao, Xiangqian Zheng
Langenbeck's Archives of Surgery.2024;[Epub] CrossRef
Distinct Impacts of Clinicopathological and Mutational Profiles on Long-Term Survival and Recurrence in Medullary Thyroid Carcinoma
Moon Young Oh, Kyong Yeun Jung, Hoonsung Choi, Young Jun Chai, Sun Wook Cho, Su-jin Kim, Kyu Eun Lee, Eun-Jae Chung, Do Joon Park, Young Joo Park, Han-Kwang Yang
Endocrinology and Metabolism.2024; 39(6): 877. CrossRef
Incidental diagnosis of medullary thyroid microcarcinoma in COVID-19 patient with elevated procalcitonin levels
Milka Jandric, Biljana Zlojutro , Dragoș Crețoiu
Archive of Clinical Cases.2024; 11(4): 98. CrossRef
Update on Management of Medullary Thyroid Carcinoma: Focus on Nuclear Medicine
Giorgio Treglia, Vittoria Rufini, Arnoldo Piccardo, Alessio Imperiale
Seminars in Nuclear Medicine.2023; 53(4): 481. CrossRef
Cabozantinib, Vandetanib, Pralsetinib and Selpercatinib as Treatment for Progressed Medullary Thyroid Cancer with a Main Focus on Hypertension as Adverse Effect
Linnea Højer Wang, Markus Wehland, Petra M. Wise, Manfred Infanger, Daniela Grimm, Michael C. Kreissl
International Journal of Molecular Sciences.2023; 24(3): 2312. CrossRef
A proposed grading scheme for predicting recurrence in medullary thyroid cancer based on the Ki67 index and metastatic lymph node ratio
Pengfei Xu, Di Wu, Xuekui Liu
Endocrine.2023; 81(1): 107. CrossRef
Efficacy and Safety of [177Lu]Lu-DOTA-TATE in Adults with Inoperable or Metastatic Somatostatin Receptor-Positive Pheochromocytomas/Paragangliomas, Bronchial and Unknown Origin Neuroendocrine Tumors, and Medullary Thyroid Carcinoma: A Systematic Literatur
Marianna Hertelendi, Oulaya Belguenani, Azzeddine Cherfi, Ilya Folitar, Gabor Kollar, Berna Degirmenci Polack
Biomedicines.2023; 11(4): 1024. CrossRef
PET/CT with various radiopharmaceuticals in the complex diagnosis of medullary thyroid carcinoma: a review
N. V. Tsentr, A. E. Ertman, D. V. Ryzhkova
Diagnostic radiology and radiotherapy.2023; 14(2): 31. CrossRef
Physical activity and reduced risk of fracture in thyroid cancer patients after thyroidectomy — a nationwide cohort study
Jinyoung Kim, Kyungdo Han, Jin-Hyung Jung, Jeonghoon Ha, Chaiho Jeong, Jun-Young Heu, Se-Won Lee, Jeongmin Lee, Yejee Lim, Mee Kyoung Kim, Hyuk-Sang Kwon, Ki-Ho Song, Ki-Hyun Baek
Frontiers in Endocrinology.2023;[Epub] CrossRef
Different RONS Generation in MTC-SK and NSCL Cells Lead to Varying Antitumoral Effects of Alpha-Ketoglutarate + 5-HMF
Joachim Greilberger, Katharina Erlbacher, Philipp Stiegler, Reinhold Wintersteiger, Ralf Herwig
Current Issues in Molecular Biology.2023; 45(8): 6503. CrossRef
Medullary thyroid carcinoma
Maria Rosa Pelizzo, Esmeralda Isabella Mazza, Caterina Mian, Isabella Merante Boschin
Expert Review of Anticancer Therapy.2023; 23(9): 943. CrossRef
Mixed medullary‑follicular thyroid carcinoma: A case report and literature review
Yonghui Wang, Dandan Yin, Guifang Ren, Zhengjiang Wang, Fanhua Kong
Oncology Letters.2023;[Epub] CrossRef
Circulating cell-free DNA (cfDNA) in patients with medullary thyroid carcinoma is characterized by specific fragmentation and methylation changes with diagnostic value
Anna Citarella, Zein Mersini Besharat, Sofia Trocchianesi, Tanja Milena Autilio, Antonella Verrienti, Giuseppina Catanzaro, Elena Splendiani, Zaira Spinello, Silvia Cantara, Patrizia Zavattari, Eleonora Loi, Cristina Romei, Raffaele Ciampi, Luciano Pezzul
Biomarker Research.2023;[Epub] CrossRef
Advances in Diagnostics and Therapy of Medullary Thyroid Carcinoma (MTC)– A Mini-Review
Michał Miciak, Krzysztof Jurkiewicz
Clinical Cancer Investigation Journal.2023; 12(5): 1. CrossRef
The Evolving Treatment Landscape of Medullary Thyroid Cancer
Marta Laganà, Valentina Cremaschi, Andrea Alberti, Danica M. Vodopivec Kuri, Deborah Cosentini, Alfredo Berruti
Current Treatment Options in Oncology.2023; 24(12): 1815. CrossRef
Pralsetinib: chemical and therapeutic development with FDA authorization for the management of RET fusion-positive non-small-cell lung cancers
Faraat Ali, Kumari Neha, Garima Chauhan
Archives of Pharmacal Research.2022; 45(5): 309. CrossRef
Psychosocial Characteristics and Experiences in Patients with Multiple Endocrine Neoplasia Type 2 (MEN2) and Medullary Thyroid Carcinoma (MTC)
Robin Lockridge, Sima Bedoya, Taryn Allen, Brigitte Widemann, Srivandana Akshintala, John Glod, Lori Wiener
Children.2022; 9(6): 774. CrossRef
Aggressive clinical course of medullary thyroid microcarcinoma
Tamara Janić, Mirjana Stojković, Sanja Klet, Bojan Marković, Beleslin Nedeljković, Jasmina Ćirić, Miloš Žarković
Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma.2022; 27(85): 63. CrossRef
Comparative evaluation of somatostatin and CXCR4 receptor expression in different types of thyroid carcinoma using well-characterised monoclonal antibodies
Max Czajkowski, Daniel Kaemmerer, Jörg Sänger, Guido Sauter, Ralph M. Wirtz, Stefan Schulz, Amelie Lupp
BMC Cancer.2022;[Epub] CrossRef
Metastatic Risk Stratification of 2526 Medullary Thyroid Carcinoma Patients: A Study Based on Surveillance, Epidemiology, and End Results Database
Minh-Khang Le, Masataka Kawai, Toru Odate, Huy Gia Vuong, Naoki Oishi, Tetsuo Kondo
Endocrine Pathology.2022; 33(3): 348. CrossRef
Update on the Diagnosis and Management of Medullary Thyroid Cancer: What Has Changed in Recent Years?
Krzysztof Kaliszewski, Maksymilian Ludwig, Bartłomiej Ludwig, Agnieszka Mikuła, Maria Greniuk, Jerzy Rudnicki
Cancers.2022; 14(15): 3643. CrossRef
Immunotherapy of Neuroendocrine Neoplasms: Any Role for the Chimeric Antigen Receptor T Cells?
Giuseppe Fanciulli, Roberta Modica, Anna La Salvia, Federica Campolo, Tullio Florio, Nevena Mikovic, Alice Plebani, Valentina Di Vito, Annamaria Colao, Antongiulio Faggiano
Cancers.2022; 14(16): 3991. CrossRef
Preclinical Evaluation of Novel Tyrosine-Kinase Inhibitors in Medullary Thyroid Cancer
Davide Saronni, Germano Gaudenzi, Alessandra Dicitore, Silvia Carra, Maria Celeste Cantone, Maria Orietta Borghi, Andrea Barbieri, Luca Mignani, Leo J. Hofland, Luca Persani, Giovanni Vitale
Cancers.2022; 14(18): 4442. CrossRef
Rapid and long-lasting response to selpercatinib of paraneoplastic Cushing’s syndrome in medullary thyroid carcinoma
Marine Sitbon, Porhuoy Chou, Seydou Bengaly, Brigitte Poirot, Marie Laloi-Michelin, Laure Deville, Atanas Pachev, Ahouefa Kowo-Bille, Clement Dumont, Cécile N Chougnet
European Thyroid Journal.2022;[Epub] CrossRef
[Retracted] Ginsenoside Rg3 Alleviates Antithyroid Cancer Drug Vandetanib‐Induced QT Interval Prolongation
Juan Zhang, Dan Luo, Fang Li, Zhiyi Li, Xiaoli Gao, Jie Qiao, Lin Wu, Miaoling Li, Shao Liang
Oxidative Medicine and Cellular Longevity.2021;[Epub] CrossRef
THE ROLE OF CALCITONIN IN THE PREOPERATIVE STAGE AS THE PREDICTOR OF MEDULLARY THYROID CANCER METASTASES
Volodymyr Palamarchuk , Viktor Smolyar , Oleksandr Tovkay, Oleksandr Nechay, Volodymyr Kuts , Revaz Sichinava , Oleh Mazur
Ukrainian Scientific Medical Youth Journal.2021; 127(4): 68. CrossRef
THE ROLE OF CALCITONIN IN THE PREOPERATIVE STAGE AS THE PREDICTOR OF MEDULLARY THYROID CANCER METASTASES
Volodymyr Palamarchuk , Viktor Smolyar , Oleksandr Tovkay , Oleksandr Nechay , Volodymyr Kuts , Revaz Sichinava , Oleh Mazur
The Ukrainian Scientific Medical Youth Journal.2021; 4(127): 68. CrossRef

Original Article

Clinical Study
Genetic Analysis and Clinical Characteristics of Hereditary Pheochromocytoma and Paraganglioma Syndrome in Korean Population: Heewon Choi, Kyoung Jin Kim, Namki Hong, Saeam Shin, Jong-Rak Choi, Sang Wook Kang, Seung Tae Lee, Yumie Rhee; Endocrinol Metab. 2020;35(4):858-872. Published online December 23, 2020; DOI: https://doi.org/10.3803/EnM.2020.683

7,134 View
212 Download
13 Web of Science
14 Crossref

Abstract PDF Supplementary Material PubReader ePub

Background
Pheochromocytoma and paragangliomas (PPGL) are hereditary in approximately 30% to 40% cases. With the advancement of genetic analysis techniques, including next-generation sequencing (NGS), there were attempts to classify PPGL into molecular clusters. With NGS being applied to clinical settings recently, we aimed to review the results of genetic analysis, including NGS, and investigate the association with clinical characteristics in Korean PPGL patients.
Methods
We reviewed the medical records of PPGL patients who visited Severance hospital from 2006 to 2019. We documented the clinical phenotype of those who underwent targeted NGS or had known germline mutations of related genes.
Results
Among 57 PPGL patients, we found 28 pathogenic germline mutations of susceptibility genes. Before the targeted NGS was implemented, only obvious syndromic feature lead to the Sanger sequencing for the specific genes. Therefore, for the exact prevalence, only patients after the year 2017, when targeted NGS was added, were included (n=43). The positive germline mutations were found in 14 patients; thus, the incidence rate is 32.6%. Patients with germline mutations had a higher likelihood of family history. There were significant differences in the type of PPGLs, percentage of family history, metastasis rate, presence of other tumors, and biochemical profile among three molecular clusters: pseudohypoxic tricarboxylic acid cycle-related, pseudohypoxic von Hippel-Lindau (VHL)/endothelial PAS domain-containing protein 1-related, and kinase-signaling group. Germline mutations were identified in seven PPGL-related genes (SDHB, RET, VHL, NF1, MAX, SDHA, and SDHD).
Conclusion
We report the expected prevalence of germline mutations in Korean PPGL patients. NGS is a useful and accessible tool for genetic analysis in patients with PPGLs, and further research on molecular classification is needed for precise management.

Citations

Citations to this article as recorded by

Carotid body tumors—epidemiology and surgical resection
Kiyoto Shiga, Katsunori Katagiri, Aya Ikeda, Daisuke Saito, Shin-ichi Oikawa, Kodai Tshuchida, Jun Miyaguchi, Takahiro Kusaka, Akio Tamura
Japanese Journal of Clinical Oncology.2025;[Epub] CrossRef
Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma
Susan Richter, Nicole Bechmann
Journal of the Endocrine Society.2024;[Epub] CrossRef
Main mechanisms and clinical implications of alterations in energy expenditure state among patients with pheochromocytoma and paraganglioma: A review
Yuqi Yang, Tong Zhou, Xue Zhao, Yunjia Cai, Yao Xu, Xiaokun Gang, Guixia Wang
Medicine.2024; 103(17): e37916. CrossRef
Validation and Evaluation of 5 Scoring Systems for Predicting Metastatic Risk in Pheochromocytoma and Paraganglioma
Qin Li, Zhigang Lan, Yong Jiang, Rui Wang, Ziyao Li, Xiaolin Jiang
American Journal of Surgical Pathology.2024; 48(7): 855. CrossRef
Differences between Patients with Sporadic and Familial Pheochromocytoma—Is It Possible to Avoid Genetic Testing in Certain Patients?
María Consuelo Muñoz, Beatriz Febrero, Miriam Abellán, Antonio Miguel Hernández, José Manuel Rodríguez
Biomedicines.2024; 12(6): 1352. CrossRef
Germline Mutations and Phenotypic Associations in Korean Patients With Pheochromocytoma and Paraganglioma: A Multicenter Study and Literature Review
Kwan Hoon Jo, Jaewoong Lee, Jaeeun Yoo, Hoon Seok Kim, Eun Sook Kim, Je Ho Han, Yi Sun Jang, Jae-Seung Yun, Jang Won Son, Soon Jib Yoo, Seung Hwan Lee, Dong Jun Lim, Hyuk-Sang Kwon, Seungok Lee, Sungdae Moon, Myungshin Kim
Annals of Laboratory Medicine.2024; 44(6): 591. CrossRef
Genotype and clinical phenotype characteristics of MAX germline mutation–associated pheochromocytoma/paraganglioma syndrome
Bijun Lian, Jun Lu, Xudong Fang, Yiming Zhang, Wei Wang, Yi He, Hongyuan Yu, Feiping Li, Junwei Wang, Weiying Chen, Xiaoping Qi
Frontiers in Endocrinology.2024;[Epub] CrossRef
Novel and recurrent genetic variants of VHL, SDHB, and RET genes in Chinese pheochromocytoma and paraganglioma patients
Chong Li, Jingyi Li, Chao Han, Ting Wang, Lixia Zhang, Zhifang Wang, Tingting Wang, Lijun Xu, Guangzhao Qi, Guijun Qin, Xialian Li, Lili Zheng
Frontiers in Genetics.2023;[Epub] CrossRef
Genetic Study in Pheochromocytoma: Is It Possible to Stratify the Risk of Hereditary Pheochromocytoma?
Marta Araujo-Castro, César Mínguez Ojeda, Iñigo García Sanz, Maria Calatayud, Felicia Hanzu, Mireia Mora, Almudena Vicente, Concepción Blanco Carrera, Paz de Miguel Novoa, María del Carmen López García, Cristina Lamas, Laura Manjón-Miguélez, María del Cas
Neuroendocrinology.2023; 113(6): 657. CrossRef
The Role of VHL in the Development of von Hippel-Lindau Disease and Erythrocytosis
Petra Hudler, Mojca Urbancic
Genes.2022; 13(2): 362. CrossRef
Bilateral Pheochromocytoma with Germline MAX Variant without Family History
Shinnosuke Hata, Mai Asano, Hiroyuki Tominaga, Masahide Hamaguchi, Fumiya Hongo, Takeshi Usui, Eiichi Konishi, Michiaki Fukui
Clinics and Practice.2022; 12(3): 299. CrossRef
Diagnosis for Pheochromocytoma and Paraganglioma: A Joint Position Statement of the Korean Pheochromocytoma and Paraganglioma Task Force
Eu Jeong Ku, Kyoung Jin Kim, Jung Hee Kim, Mi Kyung Kim, Chang Ho Ahn, Kyung Ae Lee, Seung Hun Lee, You-Bin Lee, Kyeong Hye Park, Yun Mi Choi, Namki Hong, A Ram Hong, Sang-Wook Kang, Byung Kwan Park, Moon-Woo Seong, Myungshin Kim, Kyeong Cheon Jung, Chan
Endocrinology and Metabolism.2021; 36(2): 322. CrossRef
Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma
Masato Yonamine, Koichiro Wasano, Yuichi Aita, Takehito Sugasawa, Katsutoshi Takahashi, Yasushi Kawakami, Hitoshi Shimano, Hiroyuki Nishiyama, Hisato Hara, Mitsuhide Naruse, Takahiro Okamoto, Tadashi Matsuda, Shinji Kosugi, Kazuhiko Horiguchi, Akiyo Tanab
Cancers.2021; 13(16): 4014. CrossRef
Recurrent Germline Mutations of CHEK2 as a New Susceptibility Gene in Patients with Pheochromocytomas and Paragangliomas
Yinjie Gao, Chao Ling, Xiaosen Ma, Huiping Wang, Yunying Cui, Min Nie, Anli Tong, Dario De Biase
International Journal of Endocrinology.2021; 2021: 1. CrossRef

Review Article

Hypothalamus and Pituitary gland
Precision Therapy in Acromegaly Caused by Pituitary Tumors: How Close Is It to Reality?: Cheol Ryong Ku, Vladimir Melnikov, Zhaoyun Zhang, Eun Jig Lee; Endocrinol Metab. 2020;35(2):206-216. Published online June 24, 2020; DOI: https://doi.org/10.3803/EnM.2020.35.2.206

9,002 View
282 Download
9 Web of Science
10 Crossref

Abstract PDF PubReader ePub

Acromegaly presents with an enigmatic range of symptoms and comorbidities caused by chronic and progressive growth hormone elevations, commonly due to endocrinologic hypersecretion from a pituitary gland tumor. Comprehensive national acromegaly databases have been appearing over the years, allowing for international comparisons of data, although still presenting varying prevalence and incidence rates. Lack of large-scale analysis in geographical and ethnic differences in clinical presentation and management requires further research. Assessment of current and novel predictors of responsiveness to distinct therapy can lead to multilevel categorization of patients, allowing integration into new clinical guidelines and reduction of increased morbidity and mortality associated with acromegaly. This review compares current data from epidemiological studies and assesses the present-day application of prognostic factors in medical practice, the reality of precision therapy, as well as its future prospects in acromegaly, with a special focus on its relevance to the South Korean population.

Citations

Citations to this article as recorded by

Biomarkers of response to treatment in acromegaly
Leandro Kasuki, Elisa Lamback, Ximene Antunes, Mônica R. Gadelha
Expert Review of Endocrinology & Metabolism.2024; 19(1): 71. CrossRef
Predictors of morphofunctional features of somatotrophic tumors and of the effectiveness of treatment with first-generation somatostatin receptor ligands
E. V. Pronin, V. S. Pronin, M. B. Antsiferov, A. V. Petryaykin, T. M. Alexeeva, A. M. Lapshina, L. S. Urusova, A. N. Khoruzhaya, S. M. Tamaeva
Meditsinskiy sovet = Medical Council.2024; (6): 98. CrossRef
Elucidating Clinical Queries for Tailored Therapy in Patients with Prolactinoma
Min-Ho Lee, Jae Won Hong, Kyungwon Kim, Cheol Ryong Ku, Eun Jig Lee
Endocrinology and Metabolism.2024; 39(6): 819. CrossRef
Multiomics Approach to Acromegaly: Unveiling Translational Insights for Precision Medicine
Kyungwon Kim, Cheol Ryong Ku, Eun Jig Lee
Endocrinology and Metabolism.2023; 38(5): 463. CrossRef
Risk of depression in patients with acromegaly in Korea (2006-2016): a nationwide population-based study
Shinje Moon, Sangmo Hong, Kyungdo Han, Cheol-Young Park
European Journal of Endocrinology.2023; 189(3): 363. CrossRef
The Future of Somatostatin Receptor Ligands in Acromegaly
Monica R Gadelha, Luiz Eduardo Wildemberg, Leandro Kasuki
The Journal of Clinical Endocrinology & Metabolism.2022; 107(2): 297. CrossRef
Innovative therapeutics in acromegaly
Leandro Kasuki, Mônica R. Gadelha
Best Practice & Research Clinical Endocrinology & Metabolism.2022; 36(6): 101679. CrossRef
Risk of Neurodegenerative Diseases in Patients With Acromegaly
Sangmo Hong, Kyungdo Han, Kyung-Soo Kim, Cheol-Young Park
Neurology.2022;[Epub] CrossRef
Machine Learning-based Prediction Model for Treatment of Acromegaly With First-generation Somatostatin Receptor Ligands
Luiz Eduardo Wildemberg, Aline Helen da Silva Camacho, Renan Lyra Miranda, Paula C L Elias, Nina R de Castro Musolino, Debora Nazato, Raquel Jallad, Martha K P Huayllas, Jose Italo S Mota, Tobias Almeida, Evandro Portes, Antonio Ribeiro-Oliveira, Lucio Vi
The Journal of Clinical Endocrinology & Metabolism.2021; 106(7): 2047. CrossRef
Skin anomalies in acromegalic patients (Review of the practical aspects)
Florica Sandru, Adelina Popa, Dan Paduraru, Alexandru Filipescu, Mara Carsote, Adina Ghemigian
Experimental and Therapeutic Medicine.2021;[Epub] CrossRef

First
Prev
Page of 1
Next
Last

Search