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Early Genetic and Clinical Diagnosis in MEN1

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Front. Endocrinol. | doi: 10.3389/fendo.2019.00339

Multiple endocrine neoplasia type 1 (MEN1): an update and the significance of early genetic and clinical diagnosis

  • 1Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), United States

Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin, as well as nonendocrine neoplasms. Other endocrine tumors in MEN1 include foregut carcinoid tumors, adrenocortical tumors, and rarely pheochromocytoma. Nonendocrine manifestations include meningiomas and ependymomas, lipomas, angiofibromas, collagenomas, and leiomyomas. MEN1 is caused by inactivating mutations of the tumor suppressor gene MEN1 which encodes the protein menin. This syndrome can affect all age groups, with 17% of patients developing MEN1-associated tumors before 21 years of age. Despite advances in the diagnosis and treatment of MEN1-associated tumors, patients with MEN1 continue to have decreased life expectancy primarily due to malignant neuroendocrine tumors. The most recent clinical practice guidelines for MEN1 published in 2012, highlight the need for early genetic and clinical diagnosis of MEN1 and recommend an intensive surveillance approach for both patients with this syndrome and asymptomatic carriers starting at the age of 5 years with the goal of timely detection and management of MEN1-associated neoplasms and ultimately decreased disease-specific morbidity and mortality. Unfortunately, there is no clear genotype-phenotype correlation and individual mutation-dependent surveillance is not possible currently.

Keywords: Hyperparathiroidism, pituitary adenoma, MEN1 = multiple endocrine neoplasia Type 1, Enteropancreatic neuroendocrine tumor (EP-NET), carcinoid, Adrenocortical tumor

Received: 24 Oct 2018; Accepted: 10 May 2019.

Edited by:

DELMAR M. LOURENCO Jr., Clinical Hospital, Faculty of Medicine, University of São Paulo, Brazil

Reviewed by:

Dario Giuffrida, Mediterranean Institute of Oncology (IOM), Italy
Sabrina Corbetta, University of Milan, Italy  

Copyright: © 2019 Kamilaris and Stratakis. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Dr. Constantine Stratakis, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, United States, stratakc@cc1.nichd.nih.gov