Multiple endocrine neoplasia type 1 in France: clinical and genetic studies

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is a hereditary syndrome characterized by the involvement of several endocrine glands, including the parathyroid glands, the pancreatic islet cells, the anterior pituitary gland and other neuroendocrine tissues. In order to build up a French MEN1 register, a collaborative network was developed through the 'Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1' or GENEM 1. A 2-year follow-up in 40 medical and surgical units allowed the identification of more than 150 individual patients and 45 MEN1 families, and defined the major clinical features of the disease in our series. Multiple endocrine neoplasia type 1 is inherited as an autosomal dominant trait. The gene causing this syndrome has been localized to chromosome 11, band 11q13, and molecular genetic markers flanking the MEN1 locus are of use in identifying disease gene carriers in predisposed families. Selected data were presented in order to discuss the management of patients by combined clinical, biochemical and genetic screening. The set-up of a national register by a multi-disciplinary and collaborative medical and surgical network will facilitate further research on the clinical management of MEN1 patients and the basic physio-pathology of the disease.