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

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 pat...

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Bibliographic Details
Published in	Nature medicine Vol. 26; no. 7; pp. 1041 - 1043
Main Authors	Nuzzo, Pier Vitale, Berchuck, Jacob E., Korthauer, Keegan, Spisak, Sandor, Nassar, Amin H., Abou Alaiwi, Sarah, Chakravarthy, Ankur, Shen, Shu Yi, Bakouny, Ziad, Boccardo, Francesco, Steinharter, John, Bouchard, Gabrielle, Curran, Catherine R., Pan, Wenting, Baca, Sylvan C., Seo, Ji-Heui, Lee, Gwo-Shu Mary, Michaelson, M. Dror, Chang, Steven L., Waikar, Sushrut S., Sonpavde, Guru, Irizarry, Rafael A., Pomerantz, Mark, De Carvalho, Daniel D., Choueiri, Toni K., Freedman, Matthew L.
Format	Journal Article
Language	English
Published	New York Nature Publishing Group US 01.07.2020 Nature Publishing Group
Subjects	631/1647/2210/2213 631/208/176/1988 631/67/68/2486 692/699/67/589/1336 692/699/67/589/1588/1351 Assaying Biomarkers, Tumor - genetics Biomedical and Life Sciences Biomedicine Brief Communication Cancer Cancer Research Carcinoma, Renal cell Carcinoma, Renal Cell - blood Carcinoma, Renal Cell - diagnosis Carcinoma, Renal Cell - genetics Carcinoma, Renal Cell - urine Cell-Free Nucleic Acids - blood Cell-Free Nucleic Acids - genetics Cell-Free Nucleic Acids - urine Deoxyribonucleic acid Diagnosis DNA DNA methylation DNA Methylation - genetics DNA sequencing Early Detection of Cancer Epigenome - genetics Genetic aspects Health aspects High-Throughput Nucleotide Sequencing Humans Immunoprecipitation Infectious Diseases Kidney cancer Metabolic Diseases Methylation Molecular Medicine Neurosciences Next-generation sequencing Oncology, Experimental Renal cell carcinoma Tumors Urine United States
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ISSN	1078-8956 1546-170X 1546-170X
DOI	10.1038/s41591-020-0933-1

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Summary:	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). A cell-free DNA-methylation sequencing assay accurately identifies renal cell carcinoma using plasma and urine samples.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 Author Contributions: P.V.N., J.E.B., S.S., M.P., T.K.C., M.L.F. conceived and designed experiments. P.V.N., J.E.B., S.S. performed experiments. P.V.N., J.E.B., S.S., K.K., S.C.B., R.A.I., M.P., D.D.D.C., T.K.C., M.L.F. analyzed and interpreted data. M.D.M, S.L.C., S.S.W., G.S. contributed patient samples. A.H.N., S.A.A., Z.B., J.S., G.B., C.R.C., W.P., G.-S.M.L., M.D.M. collected patient data and samples. P.V.N., J.E.B., S.S., K.K., A.C., S.Y.S., F.B., S.C.B., J.-H.S., R.A.I., M.P., D.D.D.C., T.K.C., M.L.F. provided guidance and scientific input. P.V.N., J.E.B., S.S., D.D.D.C., T.K.C., M.L.F. drafted the manuscript. All authors read and approved the final manuscript. equal contribution (P.V.N., J.E.B., K.K., S.S.) equal contribution (D.D.D.C., T.K.C., M.L.F.)
ISSN:	1078-8956 1546-170X 1546-170X
DOI:	10.1038/s41591-020-0933-1