MEN 2B

(redirected from multiple endocrine neoplasia type 2B)

MEN 2B

An inherited neoplasia syndrome characterised by medullary thyroid carcinoma, phaeochromocytoma, mucocutaneous ganglioneuromas and a marfinoid habitus.

Molecular pathology
A single amino acid change is present in RET oncogene (met918thr) on chromosome 10.
References in periodicals archive ?
Moreover, isolated ganglioneuromas can also occur in association with at least two syndromes, namely multiple endocrine neoplasia type 2B and type I neurofibromatosis (10).
Colonic and esophageal disturbance in a patient with multiple endocrine neoplasia type 2b. Australian and New Zealand Journal of Medicine 1978; 8:518.
The clinical significance of such a diagnosis lies mainly in the need of further follow up of these patients as the bowel involvement could be the first manifestation of neurofibromatosis type 1 or multiple endocrine neoplasia type 2b.
Multiple endocrine neoplasia type 2B (MEN 2B; MIM 162300) is also an autosomal dominant disorder and is phenotypically characterised by the combination of pheochromocytomas, mucosal neuromas, and thickening of the optic nerves.
Diagnostic and therapeutic approach to multiple endocrine neoplasia type 2B in pediatric patients.
Parent-of-origin effects in multiple endocrine neoplasia type 2B. Am J Hum Genet 1994; 55(6): 1076-1082.
Germline dinucleotide mutation in codon 883 of the RET protooncogene in multiple endocrine neoplasia type 2B without codon 918 mutation.
MTC occurs in the sporadic form in ~70-80% of cases, whereas the remaining 20-30% are represented by three familial forms: multiple endocrine neoplasia type 2A (MEN 2A), multiple endocrine neoplasia type 2B (MEN 2B), and familial MTC not associated with MEN (1).
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.
Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors.
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