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Case of the Month: November, 2012 Page 4
Answer: C) Von Hippel-Lindau.
Discussion of Von-Hippel-Lindau:
- Familial tumor syndrome characterized by vascular tumors, cysts, adenomas, and carcinomas impacting multiple organ systems.
- Incidence: 1/35,000-50,000 (M=F)
- Genetics: Autosomal dominant w/ high penetrance and variable delayed expression (20’s-30’s).
- Chromosome: 3p25-26 – Type of mutation and location within gene account for phenotypic variability.
- VHL gene: Tumor suppressor involved in cell cycle regulation and angiogenesis.
- Prenatal: No sonographic evidence of abnormality.
- Dx Criteria
- CNS and retinalhemangioblastoma.
- CNS or retinalhemangioblastoma+ typical visceral manifestation or FHx.
Question: Given the diagnosis of VHL, which of the patient’s abnormalities is the most likely source of morbidity?
- Pancreatic cyst
- Epididymal cyst
- Renal cyst
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