The Association between Autosomal Dominant Polycystic Kidney Disease and Renal Cell Carcinoma

Abstract

Objectives: The relationship between autosomal dominant polycystic kidney disease (ADPKD) and renal cell carcinoma (RCC) is investigated to determine a link that would guide management due to elevated RCC risk. Current literature is inconclusive on this topic. Methods: This study is a retrospective chart review of patients having undergone nephrectomy. Those with pathology and history consistent with ADPKD were reviewed for presence of RCC. Results: The review at this institution revealed RCC in 18% of ADPKD patients who underwent nephrectomy. These rates are significantly higher than those found in the general population, and even greater than those would be expected in patients suffering end-stage renal disease (ESRD). Conclusions: Due to the increased prevalence of RCC in ADPKD, clinicians managing patients with ADPKD should maintain a high index of suspicion. Our data suggest a link between ADPKD and RCC, most likely at the genetic level. In light of this, we feel that further genetic research is needed to potentially discover the link between these two disease processes.

Renal cell carcinoma in a cat with polycystic kidney disease undergoing renal transplantation

“…Nevertheless, some still consider ADPKD to be a risk factor for RCC. 7 The declining clinical status postoperatively and the resulting euthanasia of the cat in this report was suspected to be due to TE disease. The authors consider the RCC found in the removed right native kidney and its surgical manipulation during nephrectomy to be the cause of hypercoagulability resulting in the subsequent TE disease, along with other contributing factors such as anemia and sepsis.…”

“…Similarly, in people, autosomal dominant polycystic kidney disease (ADPKD) is a common inherited cystic kidney disease affecting approximately six million people worldwide and is a prominent cause of end-stage renal disease (ESRD). 6,7 Resembling PKD in cats, ADPKD is due to mutations of either PKD1 in 85% of cases or PKD2 in the remaining 15%. 6 It has been speculated that there is a link between ADPKD and RCC.…”

“…9 Numerous cases of RCC diagnosed in patients with ADPKD have been reported, with the prevalence of RCC in these patients estimated to be as high as 18%. 7 Some argue that the true prevalence of RCC in patients with ADPKD is actually much higher and that the diagnosis of RCC is often missed owing to the distortion of kidney architecture by multiple cysts. ADPKD interferes with advanced imaging studies commonly used to diagnose RCC and it can present as small, multifocal clusters of cells, making it easy to be overlooked on histopathologic review.…”

“…ADPKD interferes with advanced imaging studies commonly used to diagnose RCC and it can present as small, multifocal clusters of cells, making it easy to be overlooked on histopathologic review. 7,9 Despite the current reports, the association of the two diseases remains controversial and the true relationship between RCC and ADPKD has not been determined owing to an insufficient volume of data. Nevertheless, some still consider ADPKD to be a risk factor for RCC.…”

Adult Dominant Polycystic Kidney Disease (ADPKD)

“…Molecular genetic diagnosis for patients and family members is now available, a great asset in genetic counselling. Genetic mutations associated with ADPKD are as common as one per 1000, which means at least 100 times more prevalent than the incidence of renal cell carcinoma [6,7].…”