TY - JOUR
T1 - Multiple endocrine neoplasia syndrome type 1
T2 - institution, management, and data analysis of a nationwide multicenter patient database
AU - Giusti, Francesca
AU - Cianferotti, Luisella
AU - Boaretto, Francesca
AU - Cetani, Filomena
AU - Cioppi, Federica
AU - Colao, Annamaria
AU - Davì, Maria Vittoria
AU - Faggiano, Antongiulio
AU - Fanciulli, Giuseppe
AU - Ferolla, Piero
AU - Ferone, Diego
AU - Fossi, Caterina
AU - Giudici, Francesco
AU - Gronchi, Giorgio
AU - Loli, Paola
AU - Mantero, Franco
AU - Marcocci, Claudio
AU - Marini, Francesca
AU - Masi, Laura
AU - Opocher, Giuseppe
AU - Beck-Peccoz, Paolo
AU - Persani, Luca
AU - Scillitani, Alfredo
AU - Sciortino, Giovanna
AU - Spada, Anna
AU - Tomassetti, Paola
AU - Tonelli, Francesco
AU - Brandi, Maria Luisa
PY - 2017/11
Y1 - 2017/11
N2 - 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.
AB - 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.
KW - Gastroenteropancreatic tumors
KW - Italian registry
KW - MEN1
KW - MEN1 genetic test
KW - Pituitary adenomas
KW - Primary hyperparathyroidism
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U2 - 10.1007/s12020-017-1234-4
DO - 10.1007/s12020-017-1234-4
M3 - Article
AN - SCOPUS:85010951504
SP - 1
EP - 11
JO - Endocrine
JF - Endocrine
SN - 1355-008X
ER -