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REVIEW article

Front. Endocrinol.
Sec. Translational and Clinical Endocrinology
Volume 15 - 2024 | doi: 10.3389/fendo.2024.1445633
This article is part of the Research Topic What's New in Endocrinology? (Vol II) View all 10 articles

Challenges in molecular diagnosis of multiple endocrine neoplasia

Provisionally accepted

The final, formatted version of the article will be published soon.

    Multiple endocrine neoplasia (MEN) is a group of rare genetic diseases characterized by the occurrence of multiple tumors of the endocrine system in the same patient. The first MEN described was MEN1, followed by MEN2A, and MEN2B. The identification of the genes responsible for these syndromes led to the introduction of family genetic screening programs. More than twenty years later, not all cases of MENs have been resolved from a genetic point of view, and new clinicogenetic entities have been described. In this review, we will discuss the strategies and difficulties of genetic screening for classic and newly described MENs in a clinical setting, from limitations in sequencing, to problems in classifying variants, to the identification of new candidate genes. In the era of genomic medicine, characterization of new candidate genes and their specific tumor risk is essential for inclusion of patients in personalized medicine programs as well as to permit accurate genetic counseling to be proposed for families.

    Keywords: MEN1, MEN2, Genetic Testing, candidate gene, Genome, Mosaicism

    Received: 07 Jun 2024; Accepted: 03 Sep 2024.

    Copyright: © 2024 Romanet, Charnay, Sahakian, Cuny, Castinetti and BARLIER. 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) or licensor 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: Pauline Romanet, Aix-Marseille Université, Marseille, France

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.