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[Hereditary endocrine tumour diseases].

Eystein S Husebye1, Jan Erik Varhaug, Ketil Heimdal

  • 1Endokrinologisk seksjon, Medisinsk avdeling, Haukeland Universitetssjukehus, 5021 Bergen. eystein.husebye@helse-bergen.no

Tidsskrift for Den Norske Laegeforening : Tidsskrift for Praktisk Medicin, Ny Raekke
|November 9, 2005
PubMed
Summary

Inheritable endocrine tumour syndromes, like multiple endocrine neoplasia (MEN), stem from gene mutations. Early carrier identification enables timely treatment, preventing severe complications.

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Area of Science:

  • Genetics
  • Oncology
  • Endocrinology

Context:

  • Inheritable endocrine tumour syndromes are rare but significant genetic conditions.
  • These syndromes arise from mutations in proto-oncogenes or tumour suppressor genes.
  • Examples include multiple endocrine neoplasia (MEN), Von Hippel-Lindau's disease, and familial medullary thyroid carcinoma.

Purpose:

  • To review inheritable endocrine tumour syndromes based on current literature and author expertise.
  • To highlight the genetic basis and inheritance patterns of these rare diseases.
  • To emphasize the importance of genetic screening and early detection.

Summary:

  • A number of inheritable endocrine tumour syndromes are caused by mutations in proto-oncogenes or tumour suppressor genes.

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  • These conditions, though rare, exhibit dominant inheritance with high penetrance, leading to a significant risk in affected families.
  • Genetic analysis for common disease genes is now available in Norwegian laboratories.

    • Impact:

    • Early identification of carriers allows for timely intervention, potentially curing disease manifestations and avoiding life-threatening complications.
    • Exclusion of non-carriers from follow-up reduces unnecessary medical surveillance.
    • Advances in genetic testing facilitate proactive management of these hereditary conditions.