Multiple Endocrine Neoplasia Type I

Medard F. M. van den Broek; Bernadette P.M. van Nesselrooij; Mark J.C. van Treijen; Rachel S. van Leeuwaarde; Lutske Lodewijk; Gerlof D. Valk

Multiple Endocrine Neoplasia Type I

Review

In: Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000.

2026 Mar 28.

Authors

Medard F. M. van den Broek¹, Bernadette P.M. van Nesselrooij², Mark J.C. van Treijen¹, Rachel S. van Leeuwaarde¹, Lutske Lodewijk³, Gerlof D. Valk¹

Book Editors

Kenneth R Feingold¹, Robert A. Adler², S. Faisal Ahmed³, Bradley Anawalt⁴, Marc R Blackman⁵, George Chrousos⁶, Emiliano Corpas⁷, Wouter W de Herder⁸, Ketan Dhatariya⁹, Kathleen Dungan¹⁰, Emma Hamilton¹¹, Johannes Hofland¹², Suzanne Jan de Beur¹³, Sanjay Kalra¹⁴, Gregory Kaltsas¹⁵, Nitin Kapoor¹⁶, Matthew Kim¹⁷, Christian Koch¹⁸, Peter Kopp¹⁹, Márta Korbonits²⁰, Christopher S Kovacs²¹, Wendy Kuohung²², Blandine Laferrère²³, Miles Levy²⁴, Elizabeth A McGee²⁵, Robert McLachlan²⁶, Radhika Muzumdar²⁷, Jonathan Purnell²⁸, Rodolfo Rey²⁹, Rakesh Sahay³⁰, Amy S Shah³¹, Mark A Sperling³², Constantine A Stratakis³³, Dace L Trence³⁴, Don P Wilson³⁵

Affiliations

¹ Endocrinologist, Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, the Netherlands
² Clinical geneticist, Department of Medical Genetics, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, the Netherlands
³ Endocrine surgeon, department of Endocrine Surgery, University Medical Center Utrecht, the Netherlands

Book Affiliations

¹ Professor of Medicine Emeritus, University of California, San Francisco, CA
² Chief of Endocrinology and Metabolism at the Richmond Veterans Affairs Medical Center and Professor of Internal Medicine at Virginia Commonwealth University.
³ Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
⁴ Chief of Medicine at the University of Washington Medical Center and Professor and Vice Chair of the Department of Medicine, University of Washington
⁵ Sr. Physician Scientist, Washington DC VA Medical Center; Professor of Medicine & Rehabilitation Medicine, Georgetown University; Clinical Professor of Medicine, Biochemistry and Molecular Medicine, George Washington University; and Professor of Medicine (Part-time), Johns Hopkins University
⁶ Professor of Pediatrics and Endocrinology, Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, Athens, Greece
⁷ M.D. Ph.D in Gerontology. Honorary Professor of Medicine, Universidad de Alcalá, Madrid. Consultant in Endocrinology, Hospital HLA Guadalajara (Spain).
⁸ Professor of Endocrine Oncology, Erasmus MC and Erasmus MC Cancer Center, Rotterdam, the Netherlands
⁹ Consultant in Diabetes, Endocrinology and General Medicine, Norfolk and Norwich University Hospitals NHS Foundation Trust and University of East Anglia, Norwich, UK.
¹⁰ Professor of Medicine, Division of Endocrinology, Diabetes, and Metabolism, Ohio State University
¹¹ Consultant Endocrinologist at Fiona Stanley (FSH) and Fremantle Hospitals (FH) in Perth, Western Australia
¹² Consultant Endocrinologist, Erasmus MC and Erasmus MC Cancer Center, Rotterdam, the Netherlands
¹³ Professor of Endocrinology and Chief of the Division of Endocrinology and Metabolism at the University of Virginia School of Medicine.
¹⁴ Consultant Endocrinologist, Department of Endocrinology, Bharti Hospital, Karnal, India
¹⁵ Professor of General Medicine-Endocrinology, 1st Department of Propaedeutic Medicine, National and Kapodistrian University of Athens, Athens, Greece
¹⁶ Professor of Endocrinology, Department of Endocrinology, Diabetes and Metabolism, Christian Medical College & Hospital, Vellore, Tamil Nadu, India, Melbourne School of Population and Global Health, Faculty of Medicine, Dentistry and Health Science, The University of Melbourne, Australia.
¹⁷ Clinical Director of the Division of Endocrinology, Diabetes and Hypertension at Brigham and Women’s Hospital and an Assistant Professor of Medicine at Harvard Medical School. 18. Professor, Division of Endocrinology, Diabetes, Metabolism, Department of Medicine, The University of Tennessee Health Science Center, Memphis, TN, and University of Florida, Jacksonville, FL.
¹⁸ Professor, The University of Tennessee Health Science Center, Memphis, Tennessee
¹⁹ Professor of Medicine and Chief of the Division of Endocrinology, Diabetology and Metabolism, University of Lausanne, Switzerland
²⁰ Professor of Endocrinology and Metabolism, Centre Lead for Endocrinology and Deputy Institute Director, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, England
²¹ University Research Professor and Professor of Medicine (Endocrinology and Metabolism), Obstetrics & Gynecology, and BioMedical Sciences, at Memorial University of Newfoundland in St. John’s, Newfoundland, Canada.
²² Director of the Division of Reproductive Endocrinology at Boston Medical Center and an Associate Professor of Obstetrics and Gynecology at the Boston University School of Medicine
²³ Professor of Medicine, New York Nutrition Obesity Research Center, Division of Endocrinology, Department of Medicine, Columbia University Irving Medical Center, New York, NY, USA.
²⁴ Consultant endocrinologist at University Hospitals of Leicester and Honorary Associate Professor at Leicester University
²⁵ Professor of Obstetrics and Gynecology at the University of Vermont and Director of the Division of Reproductive Endocrinology and Infertility. Burlington, Vermont
²⁶ Director of Clinical Research, Hudson Institute of Medical Research; Consultant Endocrinologist, Monash Medical Centre, Melbourne, Australia
²⁷ Allan L. Drash Endowed Chair, Chief, Division of Endocrinology and Diabetes, UPMC Children’s Hospital of Pittsburgh, Professor of Pediatrics and Cell Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA
²⁸ Professor of Medicine, Knight Cardiovascular Institute and the Division of Endocrinology, and Associate Director, Bob and Charlee Moore Institute for Nutrition and Wellness, Oregon Health and Science University, Portland, OR
²⁹ Centro de Investigaciones Endocrinológicas “Dr. César Bergadá” (CEDIE), CONICET-FEI-División de Endocrinología, Hospital de Niños Ricardo Gutiérrez, Gallo 1330, C1425EFD Buenos Aires; and Departamento de Histología, Biología Celular, Embriología y Genética, Facultad de Medicina, Universidad de Buenos Aires, C1121ABG Buenos Aires, Argentina
³⁰ Professor and Head of Department of Endocrinology, Osmania Medical College and Osmania General Hospital, Hyderabad, India.
³¹ Professor of Pediatrics, The University of Cincinnati, Department of Pediatrics and Cincinnati Children’s Hospital Medical Center, Division of Endocrinology, Cincinnati, OH, USA
³² Professorial Lecturer, Division of Pediatric Endocrinology and Diabetes, Icahn School of Medicine at Mount Sinai, New York, NY. Emeritus Professor and Chair, Department of Pediatrics, University of Pittsburgh.
³³ CSO, ELPEN, Inc. & Director, Research Institute, Athens, Greece & Senior Investigator, Human Genetics & Precision Medicine, FORTH (ITE), Heraklion, Greece. Emeritus Scientific Director & Senior Investigator, NICHD, NIH, Bethesda, MD, USA
³⁴ Professor of Medicine, Emeritus, University of Washington, Seattle, WA
³⁵ Endowed Chair, Cardiovascular Health and Risk Prevention, Pediatric Endocrinology and Diabetes, Cook Children's Medical Center, Fort Worth, TX

PMID: 29465925
Bookshelf ID: NBK481897

Excerpt

Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare autosomal dominantly inherited endocrine tumor predisposition syndrome, caused by (likely) pathogenic variants ((L)PV) in the MEN1 gene. The three major manifestations are primary hyperparathyroidism (pHPT), pituitary adenomas (PA), and neuroendocrine tumors (NETs) of the pancreas (PanNET) and duodenum. Other manifestations are NETs of thymus, lung, and stomach, adrenal tumors, and an increased breast cancer risk in women. Malignant NETs are the most important cause of disease-related mortality, mainly non-functioning (NF), PanNETs, gastrinomas, and thymus NETs. Timely recognition of MEN1, referral for genetic testing, and subsequent cascade genetic testing is essential. In patients with a clinical diagnosis of MEN1 syndrome without a genetic confirmation, the clinical course is different and there is no reason for surveillance of family members. MEN1-related pHPT (penetrance >95%) is a multiglandular disease and recurrence after initial operation is to be expected. The initial operation recommended by most experts and guidelines is a bilateral cervical exploration, identifying all four parathyroid glands and performing a subtotal parathyroidectomy. Prolactinomas are the most prevalent PA in MEN1, followed by non-functioning (NF) PAs. Treatment and treatment results do not differ from sporadic PAs. Life-time penetrance of duodenopancreatic NETs is >80%. NF-PanNETs are most frequent, followed by gastrinomas and insulinomas. Surgical resection is the mainstay of treatment and is indicated in (1) non-gastrinoma functional PanNETs and (2) NF-PanNETs >2cm or with progression during follow-up. No consensus exists on the surgical treatment of MEN1-related gastrinoma. MEN1- related duodenopancreatic NETs (dpNETs) are currently detected at earlier stages and more indolent small dpNETs are seen. The main challenge is to identify patients at risk for an aggressive disease course. Thymic NETs (2-8%) occur predominantly in males and have a poor prognosis. Bronchopulmonary NETs are more frequent than previously thought, occur in both sexes and are usually indolent - although cases with a deviant progressive course occur. Adrenal tumors are mostly indolent NF adenomas, but adrenocortical carcinomas and pheochromocytomas have been described. Women with MEN1 have an increased (RR 2.8) risk of breast cancer, at a younger age than the general population. Given the complexity of the disease, it is strongly advised that patients, whenever possible, be followed and treated in centers of expertise. For complete coverage of all related areas of Endocrinology, please visit our on-line FREE web-text, WWW.ENDOTEXT.ORG.

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