title: Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1.
abstract: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary cancer syndrome characterized mostly by parathyroid, enteropancreatic, and anterior pituitary tumors. We present a case of an 8-year-old boy referred because of hypoglycemic attacks. His diagnosis was pancreatic insulinoma. Paternal grandmother died due to repeated gastroduodenal ulcerations and a paternal aunt presented similar manifestations. At a first evaluation, the father presented only gastric ulceration but subsequently developed hyperparathyroidism and lung carcinoid tumor. During almost 15 years of follow-up, three brothers and the index case presented hyperparathyroidism and hyperprolactinemia. Molecular study showed a G to A substitution in intron 4, at nine nucleotides upstream of the splicing acceptor site, causing a splicing mutation. All affected members of the family have the same mutation. Paternal grandmother and aunt were not studied and the mother does not carry any mutation. MEN1 is a rare condition that requires permanent medical assistance. Early clinical and genetic identification of affected individuals is essential for their own surveillance and also for genetic counseling.
authors.affiliation: Center for Molecular Biology and Genetic Engineering, Universidade Estadual de Campinas, SP, Brazil.
authors.forename: Helena Campos
authors.initials: HC
authors.lastname: Fabbri
authors.forename: Maricilda Palandi de
authors.initials: MP
authors.lastname: Mello
authors.forename: Fernanda Caroline
authors.initials: FC
authors.lastname: Soardi
authors.forename: Adriana Mangue
authors.initials: AM
authors.lastname: Esquiaveto-Aun
authors.forename: Daniel Minutti de
authors.initials: DM
authors.lastname: Oliveira
authors.forename: Fernanda Canova
authors.initials: FC
authors.lastname: Denardi
authors.forename: Arnaldo
authors.initials: A
authors.lastname: Moura-Neto
authors.forename: Heraldo Mendes
authors.initials: HM
authors.lastname: Garmes
authors.forename: Maria Tereza Matias
authors.initials: MT
authors.lastname: Baptista
authors.forename: Patrícia Sabino de
authors.initials: PS
authors.lastname: Matos
authors.forename: Sofia Helena Valente de
authors.initials: SH
authors.lastname: Lemos-Marini
authors.forename: Lilia Freire Rodrigues
authors.initials: LF
authors.lastname: D'Souza-Li
authors.forename: Gil
authors.initials: G
authors.lastname: Guerra-Júnior
mesh_terms: D002648:Child; D006801:Humans; D007340:Insulinoma / Q000235:genetics*; D007438:Introns / Q000235:genetics; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000235:genetics*; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins