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Active clinical trials for "Hemangioblastoma"

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Psychosocial Consequences of the Screening of Von Hippel Lindau Diseases for Patients Operated for...

Hemangioblastoma (HB) of the Central Nervous System (CNS)

Von Hippel-Lindau (VHL) disease is a severe autosomal dominant genetic disorder (with almost complete penetrance) that predisposes to many tumors including some associated with a poorer outcome. Clear cell renal cell carcinoma (CCRCC) is the leading cause of mortality. The diagnosis of VHL disease may be challenging because tumors have an asynchronous and multi-organ development and there is often no apparent hereditary context. As it is admitted that VHL disease is underdiagnosed, some countries have decided to recall patients presenting one of the potentially VHL disease-associated tumors to screen them for VHL mutation. Screening is currently recommended in guidelines but many patients may have not been previously screened. Hemangioblastoma (HB) of the Central nervous system (CNS) is one of the typical VHL tumors and up to 20% of patients with HB show VHL mutation. VHL diagnosis in this population enables the diagnosis of other tumor types at an early stage of development since HB is chronologically the second tumor occurring during the VHL disease history. But it raises critical problems and questions: difficult announcement of a potentially severe disease and psychosocial dimension related to inheritance of the disease.

Completed5 enrollment criteria

Visualizing Vascular Endothelial Growth Factor (VEGF) Producing Lesions in Von Hippel-Lindau Disease...

Von Hippel-Lindau DiseaseHemangioblastoma3 more

Von Hippel Lindau disease (VHLD) is an inherited syndrome characterized by vascular malformations, kidney cancer, adrenal gland and pancreas tumors. The VHL protein is not functional in the different disease associated lesions which results in production of high amounts of vascular endothelial growth factor (VEGF). Currently there are no clinical, radiographic or molecular markers that can predict the natural history of a given lesion. With 89Zr-bevacizumab positron emission tomography (PET) scanning, VEGF can be visualized and quantified. The investigators hypothesize that 89Zr-bevacizumab PET imaging is a useful tool to predict the behaviour of disease associated lesions in patients with VHLD. Adult patients with VHLD who have had routine magnetic resonance imaging (MRI) scans of central nervous system (CNS) and abdomen will undergo a 89Zr-bevacizumab PET scan. MRI will be repeated within 12 months.

Completed8 enrollment criteria
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