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Update on the MEN 2A c804 RET mutation: is prophylactic thyroidectomy indicated?
1Department of Endocrinology, Maine Medical Center, Portland, ME, USA.
Surgery
|December 15, 2000
Summary
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:
- 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.
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