Which of the following is a feature of von Hippel-Lindau disease?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

Von Hippel-Lindau (VHL) disease is a hereditary condition characterized by the predisposition to develop several types of tumors and cysts in various organs, primarily affecting the central nervous system, eyes, and abdomen. One of the hallmark features of VHL disease is the development of bilateral renal cell carcinomas (RCC), particularly clear cell type. This predisposition is due to mutations in the VHL tumor suppressor gene, which plays a critical role in cellular oxygen response and regulation of angiogenesis.

Individuals with VHL often develop multiple tumors, including pheochromocytomas, hemangioblastomas of the retina and central nervous system, pancreatic tumors, and the aforementioned renal cell carcinomas. The bilateral nature of renal cell carcinomas in this condition is a distinct feature, as sporadic renal cell carcinomas typically occur unilaterally.

While other options present various conditions that could be seen in different disease contexts, they do not specifically correlate with the classic features seen in VHL disease. For example, skin hemangiomas are not a feature of VHL, nor is there a consistent association of increased serum calcium levels or high-frequency hearing loss with this syndrome. Rather, high-frequency hearing loss may associate with other neurological conditions but

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