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

Nat Med. 2020 Jul;26(7):1041-1043. doi: 10.1038/s41591-020-0933-1. Epub 2020 Jun 22.

Abstract

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).

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Biomarkers, Tumor / genetics
  • 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
  • DNA Methylation / genetics*
  • Early Detection of Cancer*
  • Epigenome / genetics
  • High-Throughput Nucleotide Sequencing
  • Humans

Substances

  • Biomarkers, Tumor
  • Cell-Free Nucleic Acids

Grant support