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Endocrine. 2017 Nov;58(2):349-359. doi: 10.1007/s12020-017-1234-4. Epub 2017 Jan 28.

Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database.

Author information

1
Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.
2
Familial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.
3
Department of Clinical and Experimental Medicine, Section of Endocrinology, University of Pisa, Pisa, Italy.
4
Endocrinology Unit, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy.
5
Internal Medicine, Section of Endocrinology, Department of Medicine, University of Verona, Verona, Italy.
6
Thyroid and Parathyroid Surgery Unit, Istituto Nazionale per lo Studio e la Cura dei Tumori "Fondazione G. Pascale" IRCCS, Naples, Italy.
7
NET Unit, Department of Clinical and Experimental Medicine, University of Sassari, Sassari, Italy.
8
Department of Internal Medicine and Endocrine Sciences, University of Perugia, Perugia, Italy.
9
Endocrinology Units, Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy.
10
Department of Endocrinology, Hospital Niguarda Ca' Granda, Milan, Italy.
11
Division of Endocrinology, Department of Medicine (DIMED), University of Padua, Padua, Italy.
12
Professor Emeritus of the University of Milan, Milan, Italy.
13
Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.
14
Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.
15
Unit of Endocrinology 'Casa Sollievo della Sofferenza' Hospital, IRCCS, San Giovanni Rotondo, Foggia, Italy.
16
Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
17
Department of Medical and Surgical Sciences, S. Orsola-Malpighi University Hospital, Bologna, Italy.
18
Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy. marialuisa.brandi@unifi.it.

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.

KEYWORDS:

Gastroenteropancreatic tumors; Italian registry; MEN1; MEN1 genetic test; Pituitary adenomas; Primary hyperparathyroidism

PMID:
28132167
DOI:
10.1007/s12020-017-1234-4
[Indexed for MEDLINE]

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