title: Molecular genetic analysis of a supratentorial haemangioblastoma in a non-Von Hippel Lindau patient.
abstract: We describe a rare tumor site in a 46 year old man who presented with a two week history of headache. Physical examination revealed bilateral papilloedema with no other localizing signs. Computed Tomographic Scan as well as Magnetic Resonance Imaging of the brain revealed a lesion with a dura tail located adjacent to the falx cerebri of the right frontal lobe. This lesion was not invading the inner table of the skull base. A tumor blush was seen on angiogram. There were no abnormalities on CT scan of the abdomen and fundoscopy was normal. Intraoperatively a vascular tumor not attached to the dura was noted and removed totally. Histopathological examination was typical of a hemangioblastoma. Analysis revealed no mutations of the VHL gene in 5 regions, exon 5-8 of the p53 gene, exon 1-2 of the p16 gene and exon 5,6 and 8 of the PTEN gene. This is the first case report of a supratentorial hemangioblastoma in a non-Von Hippel Lindau patient with genetic evidence.
authors.affiliation: Department of Neurosciences, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan.
authors.forename: I
authors.initials: I
authors.lastname: Zamzuri
authors.forename: M M
authors.initials: MM
authors.lastname: Ghazali
authors.forename: N
authors.initials: N
authors.lastname: Zainuddin
authors.forename: S
authors.initials: S
authors.lastname: Sulong
authors.forename: S M
authors.initials: SM
authors.lastname: Samarendra
authors.forename: A A Mohd
authors.initials: AA
authors.lastname: Yusoff
authors.forename: A R M
authors.initials: AR
authors.lastname: Ariff
authors.forename: J
authors.initials: J
authors.lastname: Abdullah
mesh_terms: D005820:Genetic Testing; D018325:Hemangioblastoma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D015173:Supratentorial Neoplasms / Q000235:genetics* / Q000473:pathology; D006623:von Hippel-Lindau Disease