Von Hippel-Lindau (VHL) Disease ? Renal Cell Carcinoma (RCC)

Renal involvement in VHL disease often begins in early adulthood and is characterized by the appearance of multiple, bilateral kidney cysts, and clear cell renal cell carcinomas (ccRCC). Up to 70% of patients with VHL may develop RCC, usually manifesting as multiple and bilateral tumors. RCCs in VHL patients tend to arise from preexisting cysts and can evolve into more aggressive tumors as they grow, particularly when lesions exceed 3cm. Early-stage RCCs are typically low-grade and minimally invasive, but as tumor size increases, the risk of metastasis rises.

Due to the multifocal and recurrent nature of kidney tumors in VHL, careful surveillance and timely, nephron-sparing interventions are critical to preserving renal function. Management includes regular imaging, surgical resection of larger tumors, and emerging targeted therapies. Understanding the molecular pathways disrupted in VHL disease has also advanced the development of treatments targeting angiogenesis and cellular growth pathways specific to VHL-related RCC.