Cerebrospinal Fluid cfDNA Sequencing for Classification of Central Nervous System Glioma.

ABSTRACT:

Purpose

Primary central nervous system (CNS) gliomas can be classified by characteristic genetic alterations. In addition to solid tissue obtained via surgery or biopsy, cell-free DNA (cfDNA) from cerebrospinal fluid (CSF) is an alternative source of material for genomic analyses.

Experimental design

We performed targeted next-generation sequencing of CSF cfDNA in a representative cohort of 85 patients presenting at two neurooncological centers with suspicion of primary or recurrent glioma. Copy-number variation (CNV) profiles, single-nucleotide variants (SNV), and small insertions/deletions (indel) were combined into a molecular-guided tumor classification. Comparison with the solid tumor was performed for 38 cases with matching solid tissue available.

Results

Cases

SUBMITTER: Iser F 

PROVIDER: S-EPMC11247324 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature