Risk of Renal Cell Carcinoma in Patients with ADPKD and ESRD
No clear association exists between ADPKD and an increased risk of renal cell carcinoma, even in patients with end-stage renal disease. 1
Understanding the Relationship Between ADPKD, ESRD, and RCC
- According to the 2025 KDIGO clinical practice guidelines for ADPKD, there is no clear association between ADPKD and an increased risk of renal cell carcinoma 1
- However, healthcare providers should be aware of atypical presentations of renal cell carcinoma in people with ADPKD 1
- End-stage renal disease (ESRD) itself is recognized as a risk factor for RCC development, particularly in patients with:
Evidence Regarding ADPKD and RCC Risk
- While older studies suggested a possible increased prevalence of RCC in ADPKD patients with ESRD, the most recent and authoritative guidelines do not support this association 1
- A retrospective analysis of 86 necropsies and 25 nephrectomy specimens with ADPKD revealed only one patient with renal cell carcinoma, suggesting no increased risk compared to the general population 3
- Some smaller studies have reported higher rates of RCC in ADPKD patients undergoing nephrectomy, but these findings may be confounded by the presence of ESRD and dialysis 4, 5
Clinical Implications for Monitoring
- For patients with ADPKD who are undergoing kidney transplantation, guidelines recommend performing imaging of the kidneys within 1 year prior to transplantation to rule out solid or complex cystic lesions 1
- Native nephrectomy should be performed only for specific indications when the benefit outweighs the risk, including suspicion of renal cell carcinoma 1
- Ultrasonography is the initial imaging modality of choice for screening high-risk patients, with CT or MRI recommended for further investigation of suspicious findings 2
Risk Factors for RCC That May Apply to ADPKD Patients
- ESRD itself is associated with increased RCC risk, particularly in patients on long-term dialysis 1, 6
- Acquired cystic kidney disease (ACKD), which can develop in ESRD patients, carries a 5-10 times greater risk for RCC compared to the general population 3
- Patients with ACKD who develop RCC often show specific genetic mutations, including in KMT2C and TSC2 genes 6
Conclusion
- While monitoring for RCC is important in all ESRD patients, the current evidence does not support additional RCC screening specifically for ADPKD beyond what is recommended for ESRD patients in general 1
- Any suspicious findings on imaging in ADPKD patients should prompt further investigation, as RCC may present atypically in these patients 1