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Molecular Genetic Analysis of a Supratentorial Haemangioblastoma in a Non-Von Hippel Lindau Patient

Zamzuri I., and Ghazali M.M., and Zainuddin N., and Sulong S., and Samarendra, S.M., and Mohd Yusoff A.A., and Ariff A.R.M., and Abdullah J., (2005) Molecular Genetic Analysis of a Supratentorial Haemangioblastoma in a Non-Von Hippel Lindau Patient. Medical Journal of Malaysia, 60 (3). pp. 360-363. ISSN 0300-5283

Full text not available from this repository.

Affiliations

Universiti Sains Malaysia. School Of Medical Sciences. Dept. of Neurosciences.
Universiti Sains Malaysia. School Of Medical Sciences. Dept. of Neurosciences.
Universiti Sains Malaysia. School Of Medical Sciences. Dept. of Neurosciences.
Universiti Sains Malaysia. School Of Medical Sciences. Dept. of Human Genom Center.
Universiti Sains Malaysia. School Of Medical Sciences. Dept. of Pathology.
Universiti Sains Malaysia. School Of Medical Sciences. Dept. of Neurosciences.
Universiti Sains Malaysia. School Of Medical Sciences. Dept. of Radiology.
Universiti Sains Malaysia. School Of Medical Sciences. Dept. of Neurosciences.

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,nexon 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.

Item Type:Journal
Keywords:Non Von-Hippel Lindau, Hemongioblastoma, Supratentorial, Neurogenetics
Subjects:R Medicine, Dentistry, Pharmacy, Nursing
ID Code:5840

1. Lantos PL, Vanden Berg SR, Kleihues P. Tumours of the nervous system In: Graham D1 and Lantos PL eds. Greenfield's neuropathology 6th edn. Arnold, London, 1997; 2: 750-52.

2. Neumann HP, Eggert HR, Schretnet R et al. Central nervous system lesions in Von Hippel —Lindau Syndrome. J Neurol Neurosurg Psychiat 1992; 55: 898-90.

3. Oberstrass J, Reifenberger G, Reifenherger J, Wechsler W, Collins VP. Mutation of the Von Hippel-Lindau tumour suppressor gene in capillary haemangioblastoma of the central nervous system. J Pathol 1996; 179 (2): 151-56.

4. Berger PC and Scheithauer BW eds In: Tumours of the central nervous system. Atlas of tumor pathology, Fascicle 10, AFIP, Washington DC 1993; 239-48.

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