title: Multiple endocrine neoplasia type 2B.
abstract: We report a case of multiple endocrine neoplasia type 2B (MEN 2B) in a 30-year-old woman. There was no family history of MEN 2B in her family. DNA testing was carried out and a point mutation was found in exon 16, codon 918 (ATG to ACG) in the RET proto-oncogene. The woman died of medullary thyroid carcinoma, 13 years after a total thyroidectomy.
authors.affiliation: Department of Urology, Ashikaga Red Cross Hospital, Ashikaga, Japan. zai23910@oak.zero.ad.jp
authors.forename: S
authors.initials: S
authors.lastname: Nakata
authors.forename: H
authors.initials: H
authors.lastname: Okugi
authors.forename: Y
authors.initials: Y
authors.lastname: Saitoh
authors.forename: H
authors.initials: H
authors.lastname: Takahashi
authors.forename: K
authors.initials: K
authors.lastname: Shimizu
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics / Q000473:pathology; D000328:Adult; D018276:Carcinoma, Medullary / Q000235:genetics* / Q000473:pathology*; D029721:Drosophila Proteins; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics* / Q000473:pathology*; D009463:Neuroma / Q000235:genetics / Q000473:pathology; D010673:Pheochromocytoma / Q000235:genetics / Q000473:pathology; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology*; D014062:Tongue Neoplasms / Q000235:genetics / 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