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

doi:10.1038/s41591-020-0932-2

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.

Authors

Farshad Nassiri^#^{1

2}, Ankur Chakravarthy^#³, Shengrui Feng^#^{3

4}, Shu Yi Shen³, Romina Nejad¹, Jeffrey A Zuccato^{1

2}, Mathew R Voisin^{1

2}, Vikas Patil¹, Craig Horbinski^{5

6}, Kenneth Aldape^{1

7}, Gelareh Zadeh^{8

9}, Daniel D De Carvalho^{10

11}

Affiliations

¹ MacFeeters Hamilton Neuro-Oncology Program, Princess Margaret Cancer Centre, University Health Network and University of Toronto, Toronto, Ontario, Canada.
² Division of Neurosurgery, Department of Surgery, University of Toronto, Toronto, Ontario, Canada.
³ Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada.
⁴ Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada.
⁵ Department of Pathology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
⁶ Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
⁷ Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA.
⁸ MacFeeters Hamilton Neuro-Oncology Program, Princess Margaret Cancer Centre, University Health Network and University of Toronto, Toronto, Ontario, Canada. [email protected].
⁹ Division of Neurosurgery, Department of Surgery, University of Toronto, Toronto, Ontario, Canada. [email protected].
¹⁰ Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada. [email protected].
¹¹ Department of Medical Biophysics, University of Toronto, Toronto, Ontario, Canada. [email protected].

^# Contributed equally.

Abstract

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

Substances

Biomarkers, Tumor
Cell-Free Nucleic Acids
DNA, Neoplasm

Abstract

Publication types

MeSH terms

Substances

Grants and funding