Detection and discrimination of intracranial tumors using plasma cell-free DNA methylomes

Nat Med. 2020 Jul;26(7):1044-1047. doi: 10.1038/s41591-020-0932-2. Epub 2020 Jun 22.


Definitive diagnosis of intracranial tumors relies on tissue specimens obtained by invasive surgery. Noninvasive diagnostic approaches provide an opportunity to avoid surgery and mitigate unnecessary risk to patients. In the present study, we show that DNA-methylation profiles from plasma reveal highly specific signatures to detect and accurately discriminate common primary intracranial tumors that share cell-of-origin lineages and can be challenging to distinguish using standard-of-care imaging.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers, Tumor / blood*
  • Brain Neoplasms / blood
  • Brain Neoplasms / diagnosis*
  • Brain Neoplasms / genetics
  • Brain Neoplasms / pathology
  • Cell-Free Nucleic Acids / blood
  • CpG Islands / genetics
  • DNA Methylation / genetics*
  • DNA, Neoplasm / blood
  • Epigenome / genetics*
  • Female
  • Gene Expression Regulation, Neoplastic / genetics
  • Humans
  • Male


  • Biomarkers, Tumor
  • Cell-Free Nucleic Acids
  • DNA, Neoplasm