title: Multiple idiopathic mucosal neuromas: a minor form of multiple endocrine neoplasia type 2B or a new entity?
abstract: Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal dominant process characterized by medullary thyroid carcinoma, pheochromocytoma, and mucosal neuromas. A point mutation at codon 918 of the RET protooncogene has been observed in approximately 90% of patients and families with MEN 2B. Mucosal neuromas are the most consistent and distinctive feature (100% of patients) of MEN 2B and are considered pathognomonic. We describe a 35-year-old woman with mucosal neuromas of the lower lip and tongue that appeared in early childhood. Examination did not reveal other abnormalities. After a follow-up of more than 22 years with periodic clinical, biochemical, and radiologic studies, no evidence of MEN 2B has been detected. Analysis of the RET protooncogene exons 10, 11, and 16 did not demonstrate point mutation in the MEN 2B region (M918T).
authors.affiliation: Department of Dermatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: R M
authors.initials: RM
authors.lastname: Pujol
authors.forename: X
authors.initials: X
authors.lastname: Matias-Guiu
authors.forename: J
authors.initials: J
authors.lastname: Miralles
authors.forename: A
authors.initials: A
authors.lastname: Colomer
authors.forename: J M
authors.initials: JM
authors.lastname: de Moragas
mesh_terms: D000328:Adult; D001483:Base Sequence; D001706:Biopsy; D002908:Chronic Disease; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D017931:DNA Primers; D005260:Female; D006801:Humans; D008046:Lip / Q000473:pathology; D008048:Lip Neoplasms / Q000235:genetics / Q000473:pathology*; D008969:Molecular Sequence Data; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics / Q000473:pathology*; D018318:Neurofibroma, Plexiform / Q000235:genetics / Q000473:pathology*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011519:Proto-Oncogenes / Q000235:genetics; D014062:Tongue Neoplasms / Q000235:genetics / Q000473:pathology*
chemical_list: D003062:Codon; D017931:DNA Primers