Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918.
case_report · Level V
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Abstract
A kindred was diagnosed with atypical MEN type 2B characterized by medullary thyroid cancer and mucosal neurilemmomas in multiple family members. Mutation analysis revealed a double RET germline mutation, Val804Met and Ser904Cys, in affected individuals. The clinical phenotype, the functional effect of the mutations, and the clinical implications of our findings are discussed.
Medical subject headings
- Alleles
- Drosophila Proteins
- Multiple Endocrine Neoplasia Type 2b
- Mutation
- Neurilemmoma
- Proto-Oncogene Proteins
- Receptor Protein-Tyrosine Kinases
- Thyroid Neoplasms