Genetic Mechanisms of Tumourigenesis in von Hippel-Lindau-Associated Tumours with the Emphasis on Capillary Hemangioblastoma
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Unusual diagnosis of Von Hippel Lindau syndrome on PET/CT - Case report and brief review of literature
We report an unusual case of a young male with cerebellar hemangioblastoma treated previously for medullary carcinoma of thyroid, whose PET/CT scans revealed a constellation of findings that suggested the rare Von Hippel Lindau syndrome. The diagnosis was clinched by confirming the findings on whole body contrast enhanced computed tomography (CECT) and contrast enha...
متن کاملReconsideration of biallelic inactivation of the VHL tumour suppressor gene in hemangioblastomas of the central nervous system.
OBJECTIVES Cerebellar haemangioblastoma occurs sporadically or as a component tumour of autosomal dominant von Hippel-Lindau disease. Biallelic inactivation of the VHL tumour suppressor gene, which is located on chromosome 3p, has been shown to be involved in the pathogenesis of both tumour entities. Mechanisms of VHL inactivation are intragenic mutations, mitotic recombination events, and hype...
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Von Hippel-Lindau syndrome is a rare, genetically based, autosomal dominant disorder. Its course is accompanied by the development of multiple neoplasms with the following tumours diagnosed most commonly in the central nervous system haemangioblastoma, clear cell renal cell carcinoma, phaeochromocytomas, pancreatic islet tumours, and endolymphatic sac tumours. Additionally, renal and pancreatic...
متن کاملFamilial incidence of obstructive hydrocephalus due to posterior fossa tumours leading to the diagnosis of von Hippel-Lindau disease--a case report.
Von Hippel-Lindau disease (VHLD) is an autosomal dominant disorder predisposing to the development of different histological types of tumours with predominance of CNS haemangioblastomas in the majority of cases. We present a case of a 35-year-old man with obstructive hydrocephalus due to multiple posterior fossa tumours. Familial history revealed two relatives operated on previously because of ...
متن کاملHuge pancreas helps diagnosis in von Hippel-Lindau disease.
We describe five patients diagnosed with von Hippel-Lindau disease who complained of abdominal distension, pain and discomfort for a long time. All patients underwent ultrasonography, CT scan and MRI, which showed huge pancreas filled with multiple cysts. Additionally, extrapancreatic findings such as cerebellar hemangioblastoma (3 patients), retinal hemangioblastoma (2), renal cell carcinoma (...
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تاریخ انتشار 2009