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Mutation on chromosome 3
55%
85/155
Mutation on chromosome 22
15%
24/155
Mutation on chromosome 17
17%
26/155
Increased trinucleotide repeats
5%
8/155
Mutation on chromosome 16
6%
9/155
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This patient presents with bilateral renal cell carcinoma, CNS hemangiomblastoma, and retinal angioma consistent with von Hippel-Lindau (VHL) disease. VHL results from mutations of the VHL gene on chromosome 3. VHL is an autosomal dominant, neurocutaneous disorder with cavernous hemangiomas in the skin, mucosa, and viscera. The VHL gene normally functions as a tumor suppressor. VHL disease is associated with bilateral renal cell carcinomas, retinal hemangioblastoma, intracranial hemangioblastomas, and pheochromocytomas. Renal cysts, pancreatic cysts, and neuroendocrine tumors are also common. Olson et al. review the CNS findings of VHL disease. Cerebellar hemangioblastoma is a characteristic CNS finding. In particular, one study found that 60% of patients with VHL had a cerebellar hemangioblastoma. Hemangioblastomas may occur throughout the CNS. The most common causes of death associated with VHL are metastatic renal cell carcinoma and complications from CNS lesions, including hemorrhage. Maher et al. discuss the genetics of VHL disease. The VHL gene is on the p-arm of chromosome 3 and consists of three exons that produce two VHL proteins. The mutations that cause VHL disease are heterogeneous, but the most common germline mutations involve deletions that affect one or more exons. Figure A shows a brain MRI of a cerebellar hemangioblastoma in a patient with VHL. Figure B shows a fundoscopic examination of a patient with a retinal hemangioma. Illustration A shows imaging of hemagioblastomas of the brainstem and spinal cord. Incorrect Answers: Answer 2: Mutations of the NF2 gene on chromosome 22 are associated with neurofibromatosis type 2. Answer 3: Mutations of the neurofibromin gene on chromosome 17 (NF1) are associated with neurofibromatosis type 1. Answer 4: Increased trinucleotide repeats are associated with a number of conditions, including Huntington's disease. Answer 5: Mutations in PKD1 on chromosome 16 are associated with polycystic kidney disease.
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