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Endocrine

, Volume 58, Issue 2, pp 349–359 | Cite as

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 Opocher
  • Paolo Beck-Peccoz
  • Luca Persani
  • Alfredo Scillitani
  • Giovanna Sciortino
  • Anna Spada
  • Paola Tomassetti
  • Francesco Tonelli
  • Maria Luisa Brandi
Original Article

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

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

Notes

Acknowledgements

This study was supported by one unrestricted grant from Fondazione Ente Cassa di Risparmio di Firenze to ML Brandi, and by AIMEN 1 & 2. There is no funding associated with this publication.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no competing interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Springer Science+Business Media New York 2017

Authors and Affiliations

  • Francesca Giusti
    • 1
  • Luisella Cianferotti
    • 1
  • Francesca Boaretto
    • 2
  • Filomena Cetani
    • 3
  • Federica Cioppi
    • 1
  • Annamaria Colao
    • 4
  • Maria Vittoria Davì
    • 5
  • Antongiulio Faggiano
    • 6
  • Giuseppe Fanciulli
    • 7
  • Piero Ferolla
    • 8
  • Diego Ferone
    • 9
  • Caterina Fossi
    • 1
  • Francesco Giudici
    • 1
  • Giorgio Gronchi
    • 1
  • Paola Loli
    • 10
  • Franco Mantero
    • 11
  • Claudio Marcocci
    • 3
  • Francesca Marini
    • 1
  • Laura Masi
    • 1
  • Giuseppe Opocher
    • 2
  • Paolo Beck-Peccoz
    • 12
  • Luca Persani
    • 13
    • 14
  • Alfredo Scillitani
    • 15
  • Giovanna Sciortino
    • 13
    • 14
  • Anna Spada
    • 16
  • Paola Tomassetti
    • 17
  • Francesco Tonelli
    • 1
  • Maria Luisa Brandi
    • 1
  1. 1.Department of Surgery and Translational MedicineUniversity of FlorenceFlorenceItaly
  2. 2.Familial Tumor UnitVeneto Institute of Oncology IOV-IRCCSPaduaItaly
  3. 3.Department of Clinical and Experimental MedicineSection of Endocrinology, University of PisaPisaItaly
  4. 4.Endocrinology Unit, Department of Clinical Medicine and SurgeryUniversity of Naples Federico IINaplesItaly
  5. 5.Internal Medicine, Section of Endocrinology, Department of MedicineUniversity of VeronaVeronaItaly
  6. 6.Thyroid and Parathyroid Surgery UnitIstituto Nazionale per lo Studio e la Cura dei Tumori “Fondazione G. Pascale” IRCCSNaplesItaly
  7. 7.NET Unit, Department of Clinical and Experimental MedicineUniversity of SassariSassariItaly
  8. 8.Department of Internal Medicine and Endocrine SciencesUniversity of PerugiaPerugiaItaly
  9. 9.Endocrinology Units, Department of Internal Medicine and Medical Specialties (DiMI)University of GenoaGenoaItaly
  10. 10.Department of EndocrinologyHospital Niguarda Ca’ GrandaMilanItaly
  11. 11.Division of Endocrinology, Department of Medicine (DIMED)University of PaduaPaduaItaly
  12. 12.Professor Emeritus of the University of MilanMilanItaly
  13. 13.Department of Clinical Sciences and Community HealthUniversity of MilanMilanItaly
  14. 14.Division of Endocrine and Metabolic DiseasesIRCCS Istituto Auxologico ItalianoMilanItaly
  15. 15.Unit of Endocrinology ‘Casa Sollievo della Sofferenza’ Hospital, IRCCSFoggiaItaly
  16. 16.Department of Clinical Sciences and Community HealthFondazione IRCCS Ca’ Granda-Ospedale Maggiore Policlinico, University of MilanMilanItaly
  17. 17.Department of Medical and Surgical SciencesS. Orsola-Malpighi University HospitalBolognaItaly

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