title: A MEN1 syndrome with a paraganglioma.
abstract: Germline mutations of the MEN1 gene cause multiple endocrine neoplasia type 1 (MEN1), an autosomal dominant disorder characterized by tumors of the parathyroids, the pancreas, and the anterior pituitary. Paraganglioma (PGL) is a rare endocrine tumor, which can be sporadic or genetically determined. To date, PGL has never been reported as a feature of MEN1.We report here a patient presenting three features of MEN1 syndrome (hyperparathyroidism, pancreatic neuroendocrine tumor, and adrenocortical adenoma) associated with PGL. Genetic analysis of MEN1 gene revealed a new missense mutation in exon 5 (AGGAAG), causing the substitution of arginine by lysine at codon 275. Screening for other genetic disorders (SDHx, TMEM127, MAX, CDKN1B) causing PGL was negative. Immunohistochemical analyses showed normal levels of succinate dehydrogenase (SDH)A and SDHB in the PGL. The proband's sister, bearing the mutation, had primary hyperparathyroidism. It was the first typical MEN1 syndrome reported with an extra-adrenal PGL.
authors.affiliation: 1] Department of Internal Medicine A, University Hospital of Limoges, Limoges, France [2] Department of Internal Medicine B, Endocrinology and Metabolic Diseases, University Hospital of Limoges, Limoges, France.
authors.forename: Yvan
authors.initials: Y
authors.lastname: Jamilloux
authors.affiliation: 1] INSERM, UMR970, Paris Cardiovascular Research Center at HEGP, Paris, France [2] Medicine Faculty, University of Paris Descartes, Paris, France.
authors.forename: Judith
authors.initials: J
authors.lastname: Favier
authors.affiliation: APHM - Conception, Laboratory of Molecular Biology, Aix-Marseille University, Marseille, France.
authors.forename: Morgane
authors.initials: M
authors.lastname: Pertuit
authors.affiliation: Department of Pathology, University Hospital of Limoges, Limoges, France.
authors.forename: Manuela
authors.initials: M
authors.lastname: Delage-Corre
authors.affiliation: Department of Internal Medicine B, Endocrinology and Metabolic Diseases, University Hospital of Limoges, Limoges, France.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Lopez
authors.affiliation: Department of Internal Medicine B, Endocrinology and Metabolic Diseases, University Hospital of Limoges, Limoges, France.
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Teissier
authors.affiliation: Department of Surgery, University Hospital of Limoges, Limoges, France.
authors.forename: Muriel
authors.initials: M
authors.lastname: Mathonnet
authors.affiliation: Department of Internal Medicine B, Endocrinology and Metabolic Diseases, University Hospital of Limoges, Limoges, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Galinat
authors.affiliation: APHM - Conception, Laboratory of Molecular Biology, Aix-Marseille University, Marseille, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Barlier
authors.affiliation: Department of Internal Medicine B, Endocrinology and Metabolic Diseases, University Hospital of Limoges, Limoges, France.
authors.forename: Françoise
authors.initials: F
authors.lastname: Archambeaud
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000306:Adrenal Cortex Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D020125:Mutation, Missense; D010190:Pancreatic Neoplasms / Q000000981:diagnostic imaging* / Q000235:genetics; D010235:Paraganglioma / Q000000981:diagnostic imaging* / Q000235:genetics; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011859:Radiography; D013577:Syndrome
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins