title: Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database.
abstract: OBJECTIVE
  The aim of this study was to integrate European epidemiological data on patients with multiple endocrine neoplasia type 1 by creating an Italian registry of this syndrome, including clinical and genetic characteristics and therapeutic management.
  
  
  METHODS
  Clinical, familial and genetic data of patients with multiple endocrine neoplasia type 1, diagnosed, treated, and followed-up for a mean time of 11.3 years, in 14 Italian referral endocrinological centers, were collected, over a 3-year course (2011-2013), to build a national electronic database.
  
  
  RESULTS
  The Italian multiple endocrine neoplasia type 1 database includes 475 patients (271 women and 204 men), of whom 383 patients (80.6%) were classified as familial cases (from 136 different pedigrees), and 92 (19.4%) patients were sporadic cases. A MEN1 mutation was identified in 92.6% of familial cases and in 48.9% of sporadic cases. Four hundred thirty-six patients were symptomatic, presenting primary hyperparathyroidism, gastroenteropancreatic neuroendocrine tumors and pituitary tumors in 93, 53, and 41% of cases, respectively. Thirty-nine subjects, belonging to affected pedigrees positive for a MEN1 mutation, were asymptomatic at clinical and biochemical screening. Age at diagnosis of multiple endocrine neoplasia type 1 probands was similar for both familial and simplex cases (mean age 47.2 ± 15.3 years). In familial cases, diagnosis of multiple endocrine neoplasia type 1 in relatives of affected probands was made more than 10 years in advance (mean age at diagnosis 36.5 ± 17.6 years).
  
  
  CONCLUSIONS
  The analysis of Italian registry of multiple endocrine neoplasia type 1 patients revealed that clinical features of Italian multiple endocrine neoplasia type 1 patients are similar to those of other western countries, and confirmed that the genetic test allowed multiple endocrine neoplasia type 1 diagnosis 10 years earlier than biochemical or clinical diagnosis.
authors.affiliation: Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Giusti
authors.affiliation: Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.
authors.forename: Luisella
authors.initials: L
authors.lastname: Cianferotti
authors.affiliation: Familial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Boaretto
authors.affiliation: Department of Clinical and Experimental Medicine, Section of Endocrinology, University of Pisa, Pisa, Italy.
authors.forename: Filomena
authors.initials: F
authors.lastname: Cetani
authors.affiliation: Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Cioppi
authors.affiliation: Endocrinology Unit, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
authors.forename: Annamaria
authors.initials: A
authors.lastname: Colao
authors.affiliation: Internal Medicine, Section of Endocrinology, Department of Medicine, University of Verona, Verona, Italy.
authors.forename: Maria Vittoria
authors.initials: MV
authors.lastname: Davì
authors.affiliation: Thyroid and Parathyroid Surgery Unit, Istituto Nazionale per lo Studio e la Cura dei Tumori "Fondazione G. Pascale" IRCCS, Naples, Italy.
authors.forename: Antongiulio
authors.initials: A
authors.lastname: Faggiano
authors.affiliation: NET Unit, Department of Clinical and Experimental Medicine, University of Sassari, Sassari, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Fanciulli
authors.affiliation: Department of Internal Medicine and Endocrine Sciences, University of Perugia, Perugia, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Ferolla
authors.affiliation: Endocrinology Units, Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy.
authors.forename: Diego
authors.initials: D
authors.lastname: Ferone
authors.affiliation: Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Fossi
authors.affiliation: Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Giudici
authors.affiliation: Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Gronchi
authors.affiliation: Department of Endocrinology, Hospital Niguarda Ca' Granda, Milan, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Loli
authors.affiliation: Division of Endocrinology, Department of Medicine (DIMED), University of Padua, Padua, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Mantero
authors.affiliation: Department of Clinical and Experimental Medicine, Section of Endocrinology, University of Pisa, Pisa, Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Marcocci
authors.affiliation: Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Marini
authors.affiliation: Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Masi
authors.affiliation: Familial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Opocher
authors.affiliation: Professor Emeritus of the University of Milan, Milan, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Beck-Peccoz
authors.affiliation: Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.|Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Persani
authors.affiliation: Unit of Endocrinology 'Casa Sollievo della Sofferenza' Hospital, IRCCS, San Giovanni Rotondo, Foggia, Italy.
authors.forename: Alfredo
authors.initials: A
authors.lastname: Scillitani
authors.affiliation: Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.|Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Sciortino
authors.affiliation: Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Spada
authors.affiliation: Department of Medical and Surgical Sciences, S. Orsola-Malpighi University Hospital, Bologna, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Tomassetti
authors.affiliation: Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Tonelli
authors.affiliation: Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy. marialuisa.brandi@unifi.it.
authors.forename: Maria Luisa
authors.identifier: http://orcid.org/0000-0002-8741-0592
authors.initials: ML
authors.lastname: Brandi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D012042:Registries; D063189:Symptom Assessment; D055815:Young Adult
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins
keywords: Gastroenteropancreatic tumors; Italian registry; MEN1; MEN1 genetic test; Pituitary adenomas; Primary hyperparathyroidism