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The gene causing multiple endocrine neoplasia type 2 (MEN 2)

B A Ponder1

  • 1Department of Pathology, University of Cambridge, UK.

Annals of Medicine
|June 1, 1994
PubMed
Summary

Multiple endocrine neoplasia (MEN) types 1 and 2 are inherited cancer syndromes affecting different glands. MEN 2 is linked to the RET gene, with mutations causing various conditions including Hirschsprung disease.

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Guidelines for diagnosis and therapy of MEN type 1 and type 2.

The Journal of clinical endocrinology and metabolism·2001

Area of Science:

  • Genetics
  • Endocrinology
  • Oncology

Background:

  • Multiple endocrine neoplasia (MEN) types 1 and 2 are distinct inherited cancer predisposition syndromes.
  • MEN 1 affects parathyroids, pituitary, and pancreatic islets.
  • MEN 2 affects thyroid C-cells, adrenal medulla, and parathyroids, sometimes with autonomic nervous system abnormalities.

Purpose of the Study:

  • To differentiate between MEN 1 and MEN 2 genetic underpinnings.
  • To identify the predisposing genes for MEN syndromes.
  • To understand genotype-phenotype correlations in MEN 2.

Main Methods:

  • Linkage analysis to map the MEN 1 gene to chromosome 11q13.
  • Identification of the RET proto-oncogene as the MEN 2 predisposing gene.
  • Analysis of RET gene mutations in various MEN 2 subtypes and Hirschsprung disease.

Main Results:

  • The MEN 1 gene is located on chromosome 11q13.
  • The RET proto-oncogene is the causative gene for MEN 2.
  • Specific RET mutations correlate with distinct MEN 2 phenotypes and Hirschsprung disease.

Conclusions:

  • Genetic analysis is crucial for understanding MEN syndromes.
  • The RET gene plays a central role in MEN 2 pathogenesis.
  • Further research into positional cloning for MEN 1 is ongoing.

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