VHL gene inactivation in an endolymphatic sac tumor associated with von Hippel-Lindau disease.
The authors present a case of endolymphatic sac tumor, a rare adenomatous tumor of the temporal bone, in a patient with von Hippel-Lindau (VHL) disease. Sequencing and microsatellite analysis of DNA samples from the tumor showed a 1-base pair deletion in exon 1 of the VHL gene and loss of heterozygosity at chromosome 3p25.5, the locus for the VHL gene. The results indicate that VHL gene inactivation contributed to the oncogenesis of endolymphatic sac tumor and provide molecular genetic proof that this tumor is associated with VHL disease.
Kawahara
N
N
Department of Neurosurgery, Faculty of Medicine, University of Tokyo, Japan.
Kume
H
H
Ueki
K
K
Mishima
K
K
Sasaki
T
T
Kirino
T
T
D000328:Adult; D020029:Base Pairing; D001483:Base Sequence; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D004428:Ear Neoplasms / Q000150:complications / Q000235:genetics* / Q000473:pathology; D004712:Endolymphatic Sac / Q000473:pathology*; D005091:Exons; D016147:Genes, Tumor Suppressor; D006801:Humans; D008025:Ligases; D019656:Loss of Heterozygosity; D008297:Male; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000235:genetics*
D011506:Proteins; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human