Serum cell‐free DNA in renal cell carcinoma

Abstract

BACKGROUND: Currently, there are no established diagnostic andprognostic serum markers for renal cell carcinoma (RCC). The objectiveof this study was to evaluate the putative significance of serumcell-free DNA. METHODS: Preoperative serum samples from 200 consecutivepatients with sporadic, solid renal tumors were analyzed (157 patientswith RCC and 43 patients with benign renal tumors). Quantitativereal-time polymerase chain reaction was used to assess total cell-freeDNA (ring finger protein 185 {[} RNF185]) and CpG island methylation ofRas association domain family member 1A (RASSF1A) von Hippel-Lindau(VHL), prostaglandin-endoperoxidase synthase 2 (PTGS2), and P16(cyclin-dependent kinase inhibitor 2A). Associations with RCC,pathologic variables, and disease-specific survival were evaluated.RESULTS: Total cell-free DNA levels and CpG island methylation ofRASSF1A and VHL were highly diagnostic for RCC with an area under thereceiver operating characteristic curve of 0.755, 0.705, and 0.694,respectively. VHL methylation was detected more frequently in patientswith clear cell RCC than in those with other subtypes (P.007). Totalcell-free DNA levels were higher in patients with metastatic RCC (P