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Neuromas and prominent corneal nerves without MEN 2B
J M Gómez1, J Biarnés, V Volpini
1Endocrinology and Ophthalmology Services, Universitaria de Bellvitge, Barcelona, Spain.
Annales D'Endocrinologie
|April 6, 1999
Summary
Familial multiple mucosal neuromas, a condition resembling Multiple Endocrine Neoplasia type 2B (MEN 2B), were studied in a family. The study found no RET proto-oncogene mutations, suggesting it
Area of Science:
- Endocrinology
- Genetics
- Ophthalmology
Background:
- Multiple Endocrine Neoplasia type 2B (MEN 2B) is a rare genetic disorder.
- MEN 2B is typically associated with specific mutations in the RET proto-oncogene.
- Familial multiple mucosal neuromas present a phenotype similar to MEN 2B.
Observation:
- A family with 2 members exhibiting the characteristic phenotype of MEN 2B was investigated.
- Affected individuals presented with multiple mucosal neuromas and visible corneal nerves.
- Standard endocrine and genetic tests for MEN 2B were performed over a 5-year follow-up.
Findings:
- No endocrine neoplasia (medullary thyroid carcinoma, pheochromocytoma, hyperparathyroidism) was diagnosed.
- Crucially, no RET proto-oncogene mutation at codon 918, typically found in MEN 2B, was detected in the affected family members.
- The absence of RET mutations challenges the direct classification of this familial condition as MEN 2B.
Implications:
- Familial multiple mucosal neuromas may represent a distinct clinical entity separate from classic MEN 2B.
- This finding highlights the importance of considering alternative diagnoses in patients with MEN 2B-like phenotypes.
- Further research is needed to elucidate the genetic basis of familial multiple mucosal neuromas.