Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors.

ABSTRACT:

Background

Central nervous system tumors are the most common pediatric solid tumors and the most frequent cause of cancer-related morbidity in childhood. Significant advances in understanding the molecular features of these tumors have facilitated the development of liquid biopsy assays that may aid in diagnosis and monitoring response to therapy. In this report, we describe our comprehensive liquid biopsy platform for detection of genome-wide copy number aberrations, sequence variants, and gene fusions using cerebrospinal fluid (CSF) from pediatric patients with brain, spinal cord, and peripheral nervous system tumors.

Methods

Cell-free DNA was isolated from the CSF from 55 patients, including 47 patients with tumors and 8 controls.

Results

Abnormalities in cell-free

SUBMITTER: O'Halloran K 

PROVIDER: S-EPMC10349915 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature