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

Francesca Giusti, Luisella Cianferotti, Francesca Boaretto, Filomena Cetani, Federica Cioppi, Annamaria Colao, Maria Vittoria Davì, Antongiulio Faggiano, Giuseppe Fanciulli, Piero Ferolla, Diego Ferone, Caterina Fossi, Francesco Giudici, Giorgio Gronchi, Paola Loli, Franco Mantero, Claudio Marcocci, Francesca Marini, Laura Masi, Giuseppe OpocherPaolo Beck-Peccoz, Luca Persani, Alfredo Scillitani, Giovanna Sciortino, Anna Spada, Paola Tomassetti, Francesco Tonelli, Maria Luisa Brandi

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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.

Original languageEnglish
Pages (from-to)349-359
Number of pages11
JournalEndocrine
Volume58
Issue number2
DOIs
Publication statusPublished - Nov 2017

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Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia Type 1
Databases
Pedigree
Registries
Mutation
Primary Hyperparathyroidism
Pituitary Neoplasms
Referral and Consultation

Keywords

  • Journal Article

Cite this

Giusti, F., Cianferotti, L., Boaretto, F., Cetani, F., Cioppi, F., Colao, A., ... Brandi, M. L. (2017). Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database. Endocrine, 58(2), 349-359. https://doi.org/10.1007/s12020-017-1234-4

Multiple endocrine neoplasia syndrome type 1 : institution, management, and data analysis of a nationwide multicenter patient database. / Giusti, Francesca; Cianferotti, Luisella; Boaretto, Francesca; Cetani, Filomena; Cioppi, Federica; Colao, Annamaria; Davì, Maria Vittoria; Faggiano, Antongiulio; Fanciulli, Giuseppe; Ferolla, Piero; Ferone, Diego; Fossi, Caterina; Giudici, Francesco; Gronchi, Giorgio; Loli, Paola; Mantero, Franco; Marcocci, Claudio; Marini, Francesca; Masi, Laura; Opocher, Giuseppe; Beck-Peccoz, Paolo; Persani, Luca; Scillitani, Alfredo; Sciortino, Giovanna; Spada, Anna; Tomassetti, Paola; Tonelli, Francesco; Brandi, Maria Luisa.

In: Endocrine, Vol. 58, No. 2, 11.2017, p. 349-359.

Research output: Contribution to journalArticle

Giusti, F, Cianferotti, L, Boaretto, F, Cetani, F, Cioppi, F, Colao, A, Davì, MV, Faggiano, A, Fanciulli, G, Ferolla, P, Ferone, D, Fossi, C, Giudici, F, Gronchi, G, Loli, P, Mantero, F, Marcocci, C, Marini, F, Masi, L, Opocher, G, Beck-Peccoz, P, Persani, L, Scillitani, A, Sciortino, G, Spada, A, Tomassetti, P, Tonelli, F & Brandi, ML 2017, 'Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database', Endocrine, vol. 58, no. 2, pp. 349-359. https://doi.org/10.1007/s12020-017-1234-4
Giusti, Francesca ; Cianferotti, Luisella ; Boaretto, Francesca ; Cetani, Filomena ; Cioppi, Federica ; Colao, Annamaria ; Davì, Maria Vittoria ; Faggiano, Antongiulio ; Fanciulli, Giuseppe ; Ferolla, Piero ; Ferone, Diego ; Fossi, Caterina ; Giudici, Francesco ; Gronchi, Giorgio ; Loli, Paola ; Mantero, Franco ; Marcocci, Claudio ; Marini, Francesca ; Masi, Laura ; Opocher, Giuseppe ; Beck-Peccoz, Paolo ; Persani, Luca ; Scillitani, Alfredo ; Sciortino, Giovanna ; Spada, Anna ; Tomassetti, Paola ; Tonelli, Francesco ; Brandi, Maria Luisa. / Multiple endocrine neoplasia syndrome type 1 : institution, management, and data analysis of a nationwide multicenter patient database. In: Endocrine. 2017 ; Vol. 58, No. 2. pp. 349-359.
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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 - Journal Article

U2 - 10.1007/s12020-017-1234-4

DO - 10.1007/s12020-017-1234-4

M3 - Article

C2 - 28132167

VL - 58

SP - 349

EP - 359

JO - Endocrine

JF - Endocrine

SN - 1355-008X

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