Atypical MEN Type 2B Associated with Two Germline RET Mutations on the Same Allele Not Involving Codon 918

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...

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Bibliographic Details
Published in:The journal of clinical endocrinology and metabolism 2002-01, Vol.87 (1), p.393-397
Main Authors: Menko, Fred H., van der Luijt, Rob B., de Valk, Irene A. J., Toorians, Arno W. F. T., M. Sepers, Jan, van Diest, Paul J., Lips, Cornelis J. M.
Format: Article
Language:English
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Summary: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.
ISSN:0021-972X
1945-7197
DOI:10.1210/jcem.87.1.8136