Detection of renal cell carcinoma using plasma and urine cell-free DNA methylomes

P.V. Nuzzo, J.E. Berchuck, K. Korthauer, S. Spisak, A.H. Nassar, S. Abou Alaiwi, A. Chakravarthy, S.Y. Shen, Z. Bakouny, F. Boccardo, J. Steinharter, G. Bouchard, C.R. Curran, W. Pan, S.C. Baca, J.-H. Seo, G.-S.M. Lee, M.D. Michaelson, S.L. Chang, S.S. WaikarG. Sonpavde, R.A. Irizarry, M. Pomerantz, D.D. De Carvalho, T.K. Choueiri, M.L. Freedman

Research output: Contribution to journalArticlepeer-review


Improving early cancer detection has the potential to substantially reduce cancer-related mortality. Cell-free methylated DNA immunoprecipitation and high-throughput sequencing (cfMeDIP–seq) is a highly sensitive assay capable of detecting early-stage tumors. We report accurate classification of patients across all stages of renal cell carcinoma (RCC) in plasma (area under the receiver operating characteristic (AUROC) curve of 0.99) and demonstrate the validity of this assay to identify patients with RCC using urine cell-free DNA (cfDNA; AUROC of 0.86). © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
Original languageEnglish
Pages (from-to)1041-1043
Number of pages3
JournalNat. Med.
Publication statusPublished - 2020


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