title: A case of multiple endocrine neoplasia type 2B.
abstract: A sporadic case of multiple endocrine neoplasia type 2B in a twenty-six year old man who manifested medullary thyroid carcinoma, multiple mucosal neuromas of the tongue and a marfanoid habitus is reported. At the time of diagnosis, he also had multiple liver and lung metastases. Genetic analysis of his lymphocytes revealed a point mutation in exon 16 of the RET proto-oncogene. Since multiple endocrine neoplasia type 2B has a relatively poor prognosis because of the occasional aggressive behavior of medullary thyroid carcinoma, the necessity of the genetic diagnosis of multiple endocrine neoplasia in the early stage is suggested.
authors.affiliation: Department of Surgery, Tokai University School of Medicine, Kanagawa, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Ohta
authors.forename: Y
authors.initials: Y
authors.lastname: Tokuda
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: S
authors.initials: S
authors.lastname: Kuge
authors.forename: A
authors.initials: A
authors.lastname: Okumura
authors.forename: M
authors.initials: M
authors.lastname: Kubota
authors.forename: T
authors.initials: T
authors.lastname: Tajima
authors.forename: R Y
authors.initials: RY
authors.lastname: Osamura
authors.forename: T
authors.initials: T
authors.lastname: Mitomi
mesh_terms: D000328:Adult; D018276:Carcinoma, Medullary / Q000473:pathology*; D029721:Drosophila Proteins; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005500:Follow-Up Studies; D006801:Humans; D008113:Liver Neoplasms / Q000556:secondary; D008175:Lung Neoplasms / Q000556:secondary; D008297:Male; D008382:Marfan Syndrome / Q000473:pathology; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics / Q000473:pathology*; D009463:Neuroma / Q000473:pathology*; D017354:Point Mutation / Q000235:genetics; D011379:Prognosis; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D011519:Proto-Oncogenes / Q000235:genetics; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D013964:Thyroid Neoplasms / Q000473:pathology*; D014062:Tongue Neoplasms / Q000473:pathology*
chemical_list: D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila