To present two cases of renal cell carcinoma associated with VHL deficiency and provide a literature review on diagnosis, treatment, and prognosis.
Approach:
Case Report 1: A 45-year-old female with bilateral renal tumors underwent genetic testing confirming a VHL mutation. Treatment included radiofrequency ablation and laparoscopic partial nephrectomy, followed by targeted therapy with pazopanib.
Case Report 2: A 32-year-old male presented with painless hematuria and was diagnosed with VHL disease. His treatment history included multiple surgeries for tumors, and he showed signs of polycystic kidney disease.
Key Findings:
VHL disease has an incidence of approximately 1 in 36,000 and is associated with a high risk of renal cell carcinoma.
70% of patients with VHL disease develop renal cell carcinoma.
Early diagnosis and proactive treatment can significantly improve prognosis.
Interpretation:
The cases highlight the importance of multidisciplinary management and genetic testing in the diagnosis and treatment of VHL-associated renal cell carcinoma.
Limitations:
VHL cases are rare, leading to challenges in clinical practice.
Misdiagnosis and mistreatment are common, potentially exacerbating kidney damage.
Conclusion:
Timely and comprehensive evaluation, along with individualized management, is essential for improving outcomes in patients with VHL-associated renal cell carcinoma.
