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

Farshad Nassiri, Ankur Chakravarthy, Shengrui Feng, Shu Yi Shen, Romina Nejad, Jeffrey A. Zuccato, Mathew R. Voisin, Vikas Patil, Craig Horbinski, Kenneth Aldape, Gelareh Zadeh*, Daniel D. De Carvalho*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

152 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1044-1047
Number of pages4
JournalNature Medicine
Issue number7
StatePublished - Jul 1 2020

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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