title: Mutation of von Hippel-Lindau tumor suppressor gene in a sporadic endolymphatic sac tumor.
abstract: Endolymphatic sac tumor (ELST) is a low-grade adenocarcinoma of the temporal bone that is presumed to originate from the endolymphatic system. Although ELSTs are extremely rare in the general population, a significant number of studies have documented the occurrence of ELST among patients with von Hippel-Lindau (VHL) disease. Because of the rarity of the tumor, however, few cases of ELST have been analyzed for mutations of the VHL tumor suppressor gene. In this study, we reported a Japanese male patient with sporadic ELST, along with a molecular genetic analysis of the VHL gene. The light microscopic and immunohistochemical features and clinical presentations were typical of ELST. Sequencing studies of the tumor DNA disclosed a G to T substitution of nucleotide 564, which resulted in an amino acid substitution (Trp to Cys). This is the first report of the VHL gene mutation in a sporadic Japanese case of ELST.
authors.affiliation: Department of Pathology, Okayama University Hospital, Okayama, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Hamazaki
authors.forename: M
authors.initials: M
authors.lastname: Yoshida
authors.forename: M
authors.initials: M
authors.lastname: Yao
authors.forename: Y
authors.initials: Y
authors.lastname: Nagashima
authors.forename: K
authors.initials: K
authors.lastname: Taguchi
authors.forename: H
authors.initials: H
authors.lastname: Nakashima
authors.forename: S
authors.initials: S
authors.lastname: Okada
mesh_terms: D000230:Adenocarcinoma / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis / Q000276:immunology; D001859:Bone Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D004712:Endolymphatic Sac / Q000000981:diagnostic imaging / Q000473:pathology; D016147:Genes, Tumor Suppressor; D006801:Humans; D007150:Immunohistochemistry; D008025:Ligases / Q000235:genetics*; D008297:Male; D009154:Mutation; D014057:Tomography, X-Ray Computed; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human