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

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.

SUBMITTER: Nassiri F

PROVIDER: S-EPMC8500275 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature

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

Nassiri Farshad F Chakravarthy Ankur A Feng Shengrui S Shen Shu Yi SY Nejad Romina R Zuccato Jeffrey A JA Voisin Mathew R MR Patil Vikas V Horbinski Craig C Aldape Kenneth K Zadeh Gelareh G De Carvalho Daniel D DD

Nature medicine 20200622 7

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 ...[more]

PMID: 32572265

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