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Multiple endocrine neoplasia type 1.

Francesca Marini1, Alberto Falchetti, Francesca Del Monte

  • 1Regional Center for Hereditary Endocrine Tumours, Department of Internal Medicine, University of Florence, Florence, Italy. f.marini@dmi.unifi.it

Orphanet Journal of Rare Diseases
|October 4, 2006
PubMed
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Multiple Endocrine Neoplasia type 1 (MEN1) is a rare genetic syndrome causing tumors in parathyroid, pancreas, and pituitary glands. Early DNA testing and surveillance aid in managing this hereditary cancer syndrome.

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome.
  • It affects parathyroids, endocrine pancreas, and anterior pituitary, with high penetrance and equal sex distribution, occurring in 1 in 30,000 individuals.
  • MEN1 is caused by inactivating mutations in the MEN1 tumor suppressor gene, located on chromosome 11q13, encoding the menin protein.

Purpose of the Study:

  • To provide a comprehensive overview of Multiple Endocrine Neoplasia type 1 (MEN1).
  • To discuss the clinical and genetic aspects of MEN1 syndrome.
  • To highlight the importance of early identification and management strategies for MEN1.

Main Methods:

  • Review of clinical and genetic investigations for MEN1.

Related Experiment Videos

  • Analysis of molecular genetics knowledge related to the syndrome.
  • Description of current treatment modalities including surgery, drug therapy, radiotherapy, and chemotherapy.

    • Main Results:

    • MEN1 presents as sporadic or familial forms, characterized by specific endocrine tumors and other lesions.
    • The MEN1 gene encodes menin, a nuclear protein involved in cell function regulation.
    • Inactivating mutations in the MEN1 gene cause the syndrome.

    Conclusions:

    • Clinical and genetic investigations, coupled with advancing molecular genetics, improve MEN1 patient management.
    • DNA testing enables early identification of germline mutations in asymptomatic carriers.
    • Routine surveillance is recommended for identified carriers to detect MEN1-associated tumors and lesions early.