Von Hippel-Lindau (VHL) disease is a tumor predisposition syndrome caused by mutations in the VHL gene that presents with visceral neoplasms and growths, including clear cell renal cell carcinoma, and central nervous system manifestations, such as hemangioblastomas of the brain and spine. The pathophysiology involves dysregulation of oxygen sensing caused by the inability to degrade HIFα, leading to the overactivation of hypoxic pathways. Hemangioblastomas are the most common tumors in patients with VHL and cause significant morbidity.
View Article and Find Full Text PDFThe Internet is a significant source of information for patients. According to the National Institutes of Health, patient education materials (PEMs) should be at or below an eighth-grade reading level. Merkel cell carcinoma (MCC) is a rare and aggressive skin cancer that affects patients over 50 with rising incidence.
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