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MEN2BMultiple Endocrine Neoplasia, Type IIB
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Multiple mucosal neuromas are pathognomonic for MEN2B (Mucosal Neuroma Syndrome), an autosomal dominant disease characterized by medullary thyroid carcinoma, pheochromoctyoma, and gastrointestinal ganglioneuromatosis.
MTC in MEN2B is associated with a point mutation (methionine [right arrow] threonine) in exon 16(M918/T) of the RET proto-oncogene in 95% of cases.
Specifically, codon 634 in exon 11 is most common in MEN2A, while codon 918 in exon 16 is most common in MEN2B.