title: Multiple endocrine neoplasia (MEN) type II b: report of a case observed at autopsy with immunohistochemical study of mucosal neuromas.
abstract: A case of multiple endocrine neoplasia (MEN) II b syndrome was studied in a 28-year-old Colombian woman. The patient presented initially with medullary carcinoma of the thyroid (MTC), an unusual habitus, numerous mucosal neuromas, and intestinal ganglioneuromatosis. Recurrent medullary carcinoma in the mediastinum produced compression. The tumor mass could not be removed surgically, and the patient died of post-operative complications. At autopsy metastatic MTC was present in the liver, lymph nodes, and lungs. In addition, multiple mucosal neuromas were present in the mouth, nasopharynx, larynx, digestive tract, peri-adrenal fat, and hepatic portal spaces. There was no evidence of pheochromocytoma. Immunofluorescence study of mucosal neuromas showed hyperplasia and hypertrophy of nerves, without evidence of tumor. Kindred screening was negative.
authors.affiliation: Department of Pathology, Hôpital St Louis, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Lesourd
authors.forename: J
authors.initials: J
authors.lastname: Mikol
authors.forename: G
authors.initials: G
authors.lastname: Bishopric
authors.forename: C
authors.initials: C
authors.lastname: Dubost
authors.forename: C
authors.initials: C
authors.lastname: Brocheriou
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007413:Intestinal Mucosa / Q000473:pathology*; D009061:Mouth Mucosa / Q000473:pathology*; D009377:Multiple Endocrine Neoplasia / Q000032:analysis / Q000473:pathology*; D009463:Neuroma / Q000032:analysis / Q000473:pathology*; D010751:Phosphopyruvate Hydratase / Q000032:analysis; D009418:S100 Proteins / Q000032:analysis; D014746:Vimentin / Q000032:analysis
chemical_list: D009418:S100 Proteins; D014746:Vimentin; D010751:Phosphopyruvate Hydratase