Recent studies of a relatively rare hereditary cancer syndrome, von Hippel-Lindau (VHL) disease, have shed new light on the molecular pathogenesis of kidney cancer and, perhaps more important, on how mammalian cells sense and respond to changes in oxygen availability. This knowledge is already translating into new therapeutic targets for kidney cancer as well as for multiple conditions, such as...

conclusions we described successful perioperative management of a child who underwent bilateral laparoscopic cortical sparing adrenalectomy and a repeated surgery for the residual tumor removal. case presentation the child might present with a spectrum of clinical manifestation including hypertension, headache, visual disturbances, and behavioral problems. a meticulous preoperative preparation ...

CONTEXT Patients with von Hippel-Lindau syndrome, a dominantly inherited familial cancer syndrome, develop a variety of tumors in different organ systems which make the clinical management of these patients complex. CASE REPORT The long clinical history of a 45-year-old woman started at 22 years of age when she had surgery for a right adrenal pheochromocytoma. Two years later, a pancreaticodu...

Since the release of the 'World Report on Knowledge for Better Health' in 2004, a transformation has occurred in the field of health policy and systems research that has brought with it an increased emphasis on supporting the use of research evidence in the policy process. There has been an identified need for comprehensive online "one-stop shops" that facilitate the timely retrieval of researc...

BACKGROUND Von Hippel Lindau disease is an autosomal dominant multisystem/multitumoral cancer disease diagnosed by clinical, radiologic and genetic findings. Its prevalence has been estimated to be of 1/36000 inhabitants. The tumours can be benign or malignant. CASE REPORT We represent MR findings of a family with ten children. Mother and five siblings had von Hippel-Lindau disease. CONCLUS...

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...

A case of bilateral endolymphatic sac tumours is reported. In a patient with von Hippel-Lindau syndrome, tumour growth in the right cerebellopontine angle caused deafness. The tumour was removed and classified as a metastasis from a thyroid carcinoma. However, on thyroidectomy no primary neoplasm could be found. Eight years later a similar tumour was operated on in the left petrosal bone. Histo...

Biol. 22(15):5319-5336. Mol. Cell. Hippel-Lindau Tumor Suppressor Protein. Nuclear-Cytoplasmic Trafficking of the von Degradation of Hypoxia-Inducible Factor Requires Oxygen-Dependent Ubiquitination and 2002. Isabelle Groulx and Stephen Lee Suppressor Protein the von Hippel-Lindau Tumor Nuclear-Cytoplasmic Trafficking of Hypoxia-Inducible Factor Requires and Degradation of Oxygen-Dependent Ubiq...

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...