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Related Experiment Videos

Update on the MEN 2A c804 RET mutation: is prophylactic thyroidectomy indicated?

M K Frohnauer1, R A Decker

  • 1Department of Endocrinology, Maine Medical Center, Portland, ME, USA.

Surgery
|December 15, 2000
PubMed
Summary
This summary is machine-generated.

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The RET proto-oncogene c804 mutation shows variable penetrance, with potential for aggressive medullary thyroid carcinoma. Prophylactic thyroidectomy in childhood is a recommended approach for managing this genetic risk.

Area of Science:

  • Endocrinology
  • Genetics
  • Oncology

Background:

  • RET proto-oncogene mutations are linked to multiple endocrine neoplasia type 2A.
  • A specific c804 mutation is associated with C-cell disease, questioning early thyroidectomy.
  • Understanding the clinical impact of the c804 mutation is crucial for pediatric management.

Purpose of the Study:

  • To analyze clinical data from five new kindreds with the c804 mutation.
  • To determine optimal therapeutic strategies for children carrying the c804 mutation.

Main Methods:

  • Genetic analysis was performed on 38 members across five kindreds.
  • Review of biochemical, operative, and pathology reports for affected individuals.

Main Results:

Related Experiment Videos

  • Twenty-three gene carriers were identified; 14 underwent thyroidectomy.
  • Medullary thyroid carcinoma (MTC) was diagnosed in 7 carriers, C-cell hyperplasia in 6, and normal histology in 1.
  • One MTC patient died from metastases at age 12, highlighting aggressive potential.

Conclusions:

  • The c804 mutation exhibits highly variable penetrance.
  • Medullary thyroid carcinoma associated with this genotype can be aggressive.
  • Prophylactic thyroidectomy in childhood is a viable management strategy.