Early experience with cerebrospinal fluid cell-free DNA molecular profiling in a neuro-oncology practice.

ABSTRACT:

Purpose

Cerebrospinal fluid (CSF) cell-free DNA (cfDNA) is increasingly used as a liquid biopsy in neuro-oncology for diagnosing lesions of uncertain etiology, distinguishing progression from pseudoprogression, and ruling out leptomeningeal disease (LMD). We assessed our institution's early experience with a new CSF cfDNA molecular profiling assay for detecting variant alleles (VA) and copy-number alterations (CNA) across these indications in our neuro-oncology practice.

Methods

Beginning in August 2021, providers could request research CSF cfDNA sequencing from clinically indicated lumbar punctures. Following extraction, targeted next-generation sequencing (NGS) and/or low-pass whole-genome sequencing (LPWGS) were performed. VAs and CNAs were summarized by indication and in

SUBMITTER: Riviere-Cazaux C 

PROVIDER: S-EPMC13633970 | biostudies-literature | 2026 Oct

REPOSITORIES: biostudies-literature