Cell-free DNA from cerebrospinal fluid cytology specimens as a novel liquid biopsy approach for pediatric patients with primary central nervous system tumors.

ABSTRACT:

Background

Assessing circulating cell-free DNA (cfDNA) in cerebrospinal fluid (CSF) has been proposed as a promising alternative to tissue biopsy. Advances in cfDNA sequencing have further underscored the potential of CSF liquid biopsies in the clinical setting. CSF is routinely collected for cytologic evaluation at diagnosis and at recurrence in both pediatric and adult central nervous system (CNS) tumors. Preliminary studies have shown that CSF cfDNA analysis may be more sensitive than CSF cytology for detecting the presence of tumor.

Methods

CSF specimens were prospectively collected from seven pediatric patients with primary CNS malignant tumors. When possible, CSF was collected fresh and from processed cytology specimens. Low-pass whole genome sequencing (LP-WGS) and ne

SUBMITTER: Chun N 

PROVIDER: S-EPMC12918121 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature