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Introduction/definition Introduction/definition
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Epidemiology and genetics/inheritance Epidemiology and genetics/inheritance
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Histopathology and molecular pathogenesis Histopathology and molecular pathogenesis
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Clinical presentation Clinical presentation
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Diagnostic criteria Diagnostic criteria
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Imaging Imaging
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Management Management
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Overview of multidisciplinary management Overview of multidisciplinary management
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Surgery Surgery
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Radiotherapy Radiotherapy
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Systemic pharmacotherapy Systemic pharmacotherapy
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Genetic counseling Genetic counseling
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Quality of life, neurocognitive function, survivorship, palliative care Quality of life, neurocognitive function, survivorship, palliative care
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Surveillance recommendations Surveillance recommendations
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Commentary on treatment guidelines Commentary on treatment guidelines
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References References
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Cite
Abstract
Von Hippel–Lindau disease (VHL) is caused by loss of the VHL tumor suppressor gene which acts as an E3 ubiquitin ligase that degrades hypoxia-inducible factors (HIFs). It is an autosomal dominant disorder with a prevalence of over 1 in 50,000 and hemangioblastoma is the primary manifestation affecting the nervous system; in addition, VHL patients develop renal cell carcinoma and pheochromocytoma. Genetic testing and surveillance are essential. For symptomatic or progressive hemangioblastomas, surgery has been the mainstay of therapy and techniques for low-risk interventions have been refined continuously. However, with the 2021 approval of belzutifan, a first-in class HIF2-alpha inhibitor, a new treatment option has emerged. Belzutifan is active in the full spectrum of VHL-associated tumors and has been shown to induce durable radiographic responses in more than 50% of hemangioblastomas.
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