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Cancer cells have specific genetic and epigenetic alterations — different methylation patterns that affect which genes are activated to make proteins. Previously, preliminary reports showed that such methylation patterns in cell-free DNA (cfDNA), which is released by tumors into the blood, could be used to identify many cancers (NEJM JW Gen Med Feb 1 2019 and Nature 2018; 563:579).
The same international group now reports using this technology with both plasma and urine samples to detect renal cell carcinomas (RCC). Samples were tested from 99 patients with stages I–IV RCC, 15 with stage IV bladder cancer, and 28 healthy controls. Methylation patterns distinguished RCC from bladder cancer and from healthy controls with almost perfect accurac…