title: [Clinical symptoms, diagnosis and treatment of multiple endocrine neoplasia type 1. Results of genetic screening in Hungarian patients].
abstract: Multiple endocrine neoplasia type 1 syndrome is an autosomal dominant disorder characterized by endocrinopathies involving the parathyroid glands, anterior pituitary gland, and pancreas. Also, it may be associated with foregut carcinoid, adrenocortical tumors and non-endocrine tumors. After reviewing the prevalence, genetic background, clinical symptoms, diagnosis and treatment of the disorder, the authors present their genetic screening method used for the detection of mutations of the MEN1 gene (prescreening of polymerase chain reaction amplified exons using temporal temperature gradient gel electrophoresis followed by direct DNA sequencing). Using this method, the authors identified disease-causing MEN1 gene mutations in 9 probands (small deletions in 2 cases, insertion in 2 cases, nonsense mutations in 2 cases and missense mutations in 3 cases). Of the 9 mutations, 4 proved to be novel mutation not reported in the literature. Family screening indicated de novo mutations in 2 probands. In addition to mutations, several sequence polymorphisms were also detected. The authors conclude that one of the major advantages of genetic screening in families with MEN1 syndrome was the identification of family members carrying the mutation who should be regularly screened for disease manifestations and those not carrying the mutation in whom clinical screening is unnecessary. Also, genetic screening may be useful in cases when MEN1 syndrome is suspected, but the clinical manifestations do not fully establish the diagnosis of MEN1 syndrome.
authors.affiliation: Semmelweis Egyetem, Altalános Orvostudományi Kar, II. Sz. Belgyógyászati Klinika, Budapest. balogh@bel2.sote.hu
authors.forename: Katalin
authors.initials: K
authors.lastname: Balogh
authors.forename: László
authors.initials: L
authors.lastname: Hunyady
authors.forename: Attila
authors.initials: A
authors.lastname: Patócs
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Valkusz
authors.forename: Rita
authors.initials: R
authors.lastname: Bertalan
authors.forename: Péter
authors.initials: P
authors.lastname: Gergics
authors.forename: Judit
authors.initials: J
authors.lastname: Majnik
authors.forename: Judit
authors.initials: J
authors.lastname: Toke
authors.forename: Miklós
authors.initials: M
authors.lastname: Tóth
authors.forename: Nikolette
authors.initials: N
authors.lastname: Szucs
authors.forename: Edit
authors.initials: E
authors.lastname: Gláz
authors.forename: László
authors.initials: L
authors.lastname: Futo
authors.forename: János
authors.initials: J
authors.lastname: Horányi
authors.forename: Károly
authors.initials: K
authors.lastname: Rácz
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Tulassay
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D002276:Carcinoid Tumor / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D018278:Carcinoma, Neuroendocrine / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D006961:Hyperparathyroidism / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D010375:Pedigree; D010911:Pituitary Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D011110:Polymorphism, Genetic