RESUMEN
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.
Asunto(s)
Pruebas Genéticas , Hemangioblastoma/genética , Neoplasias Supratentoriales/genética , Hemangioblastoma/patología , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , Neoplasias Supratentoriales/patología , Enfermedad de von Hippel-LindauRESUMEN
Giant nerve sheath tumour is a rare tumour originating from the nerve sheath. It differs from the conventional nerve sheath tumour only by the size these tumours can reach. There are two main type of tumours that occur in the nerve sheath which include neurofibroma and schwannoma. The current views are that schwannomas arise from the progenitor of the schwann cell. Whereas the neurofibroma series probably arise from a mesenchymal origin closer to a fibroblast. We report on six cases of nerve sheath tumour that occur in the spinal and paraspinal region that presented to us over a 5 year period.