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[Neural crest and multiple endocrinopathies]

A Pasini1, F M Michiels, S Chappuis-Flament

  • 1Laboratoire de Génétique, UMR 5641, CNRS, Université Claude-Bernard Lyon I, France.

Comptes Rendus Des Seances De La Societe De Biologie Et De Ses Filiales
|January 1, 1996
PubMed
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Multiple endocrine neoplasia type 2 (MEN 2) is a hereditary cancer syndrome caused by RET gene mutations. Identifying these mutations allows for early diagnosis and treatment, improving patient outcomes.

Area of Science:

  • Genetics
  • Oncology
  • Endocrinology

Background:

  • Multiple endocrine neoplasia type 2 (MEN 2) is a group of inherited cancer syndromes including MEN 2A, MEN 2B, and familial medullary thyroid carcinoma (FMTC).
  • These disorders are caused by germline mutations in the RET proto-oncogene, which encodes a receptor tyrosine kinase.
  • MEN 2A involves medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid hyperplasia, while MEN 2B additionally features mucosal neuromas and skeletal abnormalities. FMTC is characterized solely by MTC.

Purpose of the Study:

  • To investigate the spectrum of RET gene mutations in French MEN 2 families.
  • To establish the correlation between specific RET mutations and clinical phenotypes.
  • To provide a valuable animal model for hereditary MTC research.

Main Methods:

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  • Screening of the RET gene in 170 French MEN 2 families.
  • Analysis of mutation types and their correlation with clinical manifestations.
  • Development of transgenic mice carrying a MEN 2A RET mutation.

Main Results:

  • Germline mutations in the RET gene were identified in 92% of the screened MEN 2 families.
  • A strong correlation was confirmed between the type and location of RET mutations and the clinical presentation.
  • Transgenic mice with a MEN 2A RET mutation developed C-cell hyperplasia and MTC with complete penetrance.

Conclusions:

  • RET gene mutations are the primary cause of MEN 2, with specific mutations dictating distinct clinical phenotypes.
  • Early identification of RET mutations enables proactive treatment strategies, such as early thyroidectomy.
  • The developed transgenic mouse model offers a robust platform for studying hereditary MTC pathogenesis and testing therapeutic interventions.