Multiple endocrine neoplasia type 1 caused by mosaic mutation: clinical follow-up and genetic counseling?

Lucie Coppin, Sophie Giraud, Eric Pasmant, Arnaud Lagarde, Marie-Odile North, Lauriane Le-Collen, Valérie Aubert, Grégory Mougel, Miriam Ladsous, Alyzée Louboutin, Hedia Brixi, Magalie Haissaguerre, Nicolas Scheyer, Marc Klein, Antoine Tabarin, Brigitte Delemer, Anne Barlier, Marie-Françoise Odou, Pauline Romanet

Journal: European journal of endocrinology 2022;187(1):K1-K6

PMID: 35521764

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Abstract

MEN1 is an autosomal dominant hereditary syndrome characterized by several endocrine tumors, in most cases affecting the parathyroid glands, pancreas, and anterior pituitary. It is the result of inactivating mutations in the tumor suppressor gene MEN1. More than 1300 different mutations have been identified in this gene. Mosaic MEN1 mutations have been previously described in only a few patients in the literature. In this paper, we provide a review of six cases of MEN1 mosaicism reported in the literature supplemented with six additional cases described by the French TENgen network of laboratories. This review highlights that (i) MEN1 mosaicism is not associated with a mild phenotype and results in the same natural history as heterozygous MEN1 mutation and (ii) that more systematic detection of MEN1 mosaic mutation enables improvements in both patient monitoring and genetic counseling.

Address: Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277 - CANTHER - Cancer - Heterogeneity Plasticity and Resistance to Therapies, Lille, France.; Genetics Department, Hospices Civils de LYON (HCL), University Hospital, East Pathology Center, Lyon, France.; Service de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP, Centre-Université de Paris, Paris, France.; Institut Cochin, Inserm U1016, CNRS UMR8104, Université de Paris, CARPEM, Paris, France.; Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France.; Service de Génétique et Biologie Moléculaires, Hôpital Cochin, DMU BioPhyGen, Assistance Publique-Hôpitaux de Paris, AP-HP, Centre-Université de Paris, Paris, France.; Endocrinology, Diabetology and Nutrition Unit, University Hospital of Reims, Reims, France.; Inserm/CNRS UMR 1283/8199, Pasteur Institute of Lille, EGID, Lille, France.; Cabinet Médical, Rue de Sarre, METZ, France.; CHU Lille, Service d'Endocrinologie, Diabétologie, Métabolisme et Nutrition, Hôpital Claude Huriez, Lille, France.; CH Cornouaille Quimper - Service d'Endocrinologie, Quimper, France.; Department of Gastroenterology and Digestive Oncology, Reims University Hospital, Reims, France.; Service d'Endocrinologie, Centre Hospitalier Universitaire, Hôpital du Haut Levêque, Pessac, France.; Service Endocrinologie, CHU de Nancy, Hôpital de Brabois, Vandoeuvre-lès-Nancy, France.; Endocrinology, Diabetology and Nutrition Unit, University Hospital of Reims, Reims, France.; CHU Lille, Service de Biochimie et Biologie moléculaire 'Hormonologie, Métabolisme-Nutrition, Oncologie', Lille, France.; Univ. Lille, Inserm, CHU Lille, U1286 - Infinite - Institute for Translational Research in Inflammation, Lille, France.

DOI: 10.1530/EJE-22-0171

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MeSH Terms: Follow-Up Studies, Genetic Counseling, Heterozygote, Humans, Multiple Endocrine Neoplasia Type 1, Mutation