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Review Articles
Young-Onset Diabetes in East Asians: from Epidemiology to Precision Medicine
Juliana C.N. Chan, Chun-Kwan O, Andrea O.Y. Luk
Received February 24, 2024  Accepted March 20, 2024  Published online April 16, 2024  
DOI: https://doi.org/10.3803/EnM.2024.1968    [Epub ahead of print]
  • 322 View
  • 10 Download
AbstractAbstract PDFPubReader   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.
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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
  • 17,914 View
  • 1,707 Download
  • 28 Web of Science
  • 32 Crossref
AbstractAbstract PDFPubReader   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

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  • 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
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    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
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    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
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    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
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  • 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
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    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
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    Marine Sitbon, Porhuoy Chou, Seydou Bengaly, Brigitte Poirot, Marie Laloi-Michelin, Laure Deville, Atanas Pachev, Ahouefa Kowo-Bille, Clement Dumont, Cécile N Chougnet
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  • 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; 2021: 1.     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
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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
  • 4,554 View
  • 185 Download
  • 8 Web of Science
  • 8 Crossref
AbstractAbstract PDFSupplementary MaterialPubReader   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  
  • 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
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    Chong Li, Jingyi Li, Chao Han, Ting Wang, Lixia Zhang, Zhifang Wang, Tingting Wang, Lijun Xu, Guangzhao Qi, Guijun Qin, Xialian Li, Lili Zheng
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    Petra Hudler, Mojca Urbancic
    Genes.2022; 13(2): 362.     CrossRef
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    Shinnosuke Hata, Mai Asano, Hiroyuki Tominaga, Masahide Hamaguchi, Fumiya Hongo, Takeshi Usui, Eiichi Konishi, Michiaki Fukui
    Clinics and Practice.2022; 12(3): 299.     CrossRef
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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
  • 6,695 View
  • 250 Download
  • 8 Web of Science
  • 8 Crossref
AbstractAbstract PDFPubReader   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
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    Kyungwon Kim, Cheol Ryong Ku, Eun Jig Lee
    Endocrinology and Metabolism.2023; 38(5): 463.     CrossRef
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    Shinje Moon, Sangmo Hong, Kyungdo Han, Cheol-Young Park
    European Journal of Endocrinology.2023; 189(3): 363.     CrossRef
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    Monica R Gadelha, Luiz Eduardo Wildemberg, Leandro Kasuki
    The Journal of Clinical Endocrinology & Metabolism.2022; 107(2): 297.     CrossRef
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    Leandro Kasuki, Mônica R. Gadelha
    Best Practice & Research Clinical Endocrinology & Metabolism.2022; 36(6): 101679.     CrossRef
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    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
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    Florica Sandru, Adelina Popa, Dan Paduraru, Alexandru Filipescu, Mara Carsote, Adina Ghemigian
    Experimental and Therapeutic Medicine.2021;[Epub]     CrossRef
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