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

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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.

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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.

Author information

Authors and Affiliations

  1. Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy

    Francesca Giusti, Luisella Cianferotti, Federica Cioppi, Caterina Fossi, Francesco Giudici, Giorgio Gronchi, Francesca Marini, Laura Masi, Francesco Tonelli & Maria Luisa Brandi

  2. Familial Tumor Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy

    Francesca Boaretto & Giuseppe Opocher

  3. Department of Clinical and Experimental Medicine, Section of Endocrinology, University of Pisa, Pisa, Italy

    Filomena Cetani & Claudio Marcocci

  4. Endocrinology Unit, Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy

    Annamaria Colao

  5. Internal Medicine, Section of Endocrinology, Department of Medicine, University of Verona, Verona, Italy

    Maria Vittoria Davì

  6. Thyroid and Parathyroid Surgery Unit, Istituto Nazionale per lo Studio e la Cura dei Tumori “Fondazione G. Pascale” IRCCS, Naples, Italy

    Antongiulio Faggiano

  7. NET Unit, Department of Clinical and Experimental Medicine, University of Sassari, Sassari, Italy

    Giuseppe Fanciulli

  8. Department of Internal Medicine and Endocrine Sciences, University of Perugia, Perugia, Italy

    Piero Ferolla

  9. Endocrinology Units, Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy

    Diego Ferone

  10. Department of Endocrinology, Hospital Niguarda Ca’ Granda, Milan, Italy

    Paola Loli

  11. Division of Endocrinology, Department of Medicine (DIMED), University of Padua, Padua, Italy

    Franco Mantero

  12. Professor Emeritus of the University of Milan, Milan, Italy

    Paolo Beck-Peccoz

  13. Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy

    Luca Persani & Giovanna Sciortino

  14. Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy

    Luca Persani & Giovanna Sciortino

  15. Unit of Endocrinology ‘Casa Sollievo della Sofferenza’ Hospital, IRCCS, San Giovanni Rotondo, Foggia, Italy

    Alfredo Scillitani

  16. Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca’ Granda-Ospedale Maggiore Policlinico, University of Milan, Milan, Italy

    Anna Spada

  17. Department of Medical and Surgical Sciences, S. Orsola-Malpighi University Hospital, Bologna, Italy

    Paola Tomassetti

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  1. Francesca Giusti
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  2. Luisella Cianferotti
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  3. Francesca Boaretto
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  4. Filomena Cetani
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  5. Federica Cioppi
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  6. Annamaria Colao
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  7. Maria Vittoria Davì
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  8. Antongiulio Faggiano
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  9. Giuseppe Fanciulli
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  10. Piero Ferolla
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  11. Diego Ferone
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  12. Caterina Fossi
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  13. Francesco Giudici
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  14. Giorgio Gronchi
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  17. Claudio Marcocci
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  18. Francesca Marini
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  19. Laura Masi
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  20. Giuseppe Opocher
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  21. Paolo Beck-Peccoz
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  22. Luca Persani
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  23. Alfredo Scillitani
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  24. Giovanna Sciortino
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  25. Anna Spada
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  26. Paola Tomassetti
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  27. Francesco Tonelli
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  28. Maria Luisa Brandi
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Corresponding author

Correspondence to Maria Luisa Brandi.

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The authors declare that they have no competing interest.

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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.

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

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

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  • DOI: https://doi.org/10.1007/s12020-017-1234-4

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