Renal Cell Carcinoma in the Background of Autosomal Dominant Polycystic Kidney Disease: Report of Two Cases and Review of Literature

Abstract

Patients with autosomal dominant polycystic kidney disease (ADPKD), especially those with renal failure, carry a higher risk of developing renal cell carcinoma (RCC) compared to the general population. Genetic mutations associated with ADPKD are known but a direct link associated with RCC is still controversial. We discuss the clinical course of two such patients. The first patient was diagnosed with ADPKD at the age of 10 years with an unreported tubulocystic RCC focus on his renal biopsy that was picked up on review 16 years later when he presented with vertebral metastases determined to have originated from the RCC. He was doing well on multikinase inhibitors till 4 years of diagnosis with metastatic disease when he succumbed to progressive disease after 3 lines of systemic therapy. The second patient was diagnosed with ADPKD in middle age and papillary RCC 3 years later. Within 3 months of cancer diagnosis, there was progression to metastatic disease and rapid decline despite systemic therapies. We surmise that the diagnosis of RCC may be missed in ADPKD till the advanced stages. Patients with ADPKD should be monitored regularly with imaging and biopsy if needed. Histology may be varied but once diagnosed, systemic therapies may help disease control.

Renal cell carcinoma in autosomal dominant polycystic kidney disease: A case report

“…Chemotherapy or immunotherapy can be given to patients with metastatic disease. mTOR inhibitors have also been found to be effective in metastatic RCC, either alone or in combination with VEGF-targeted medications [7] . The patient in this case was managed with radical nephrectomy.…”

“…The prognosis of ADPKD with RCC remains unclear, and the high incidence of RCC found in ADPKD patients in earlier research may simply be the result of end-stage renal disease (ESRD) brought on by ADPKD [6] . Compared to clear cell RCC, papillary RCC is considered to have a better prognosis [7] . Sarcomatoid RCC has the worst prognosis [6] .…”