Low-pass Whole-genome and Targeted Sequencing of Cell-free DNA from Cerebrospinal Fluid in Pediatric Patients with Central Nervous System Tumors

Overview

Journal Neurooncol Adv

Publisher Oxford University Press

Date 2023 Jul 18

PMID 37461402

Authors

Katrina OHalloran

Venkata Yellapantula

Eirini Christodoulou

Dejerianne Ostrow

Moiz Bootwalla

Jianling Ji

Jennifer Cotter

Nicholas Chapman

Jason Chu

Ashley Margol

Mark D Krieger

Peter A Chiarelli

Xiaowu Gai

Jaclyn A Biegel

Affiliations

Soon will be listed here.

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 DNA were detected in 24 (51%) patients including 11 with copy number alterations, 9 with sequence variants, and 7 with :: fusions. Positive findings were obtained in patients spanning histologic subtypes, tumor grades, and anatomic locations.

Conclusions: This study demonstrates the feasibility of employing this platform in routine clinical care in upfront diagnostic and monitoring settings. Future studies are required to determine the utility of this approach for assessing response to therapy and long-term surveillance.

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