Real-world experience with circulating tumor DNA in cerebrospinal fluid from patients with central nervous system tumors.

Humans Circulating Tumor DNA / cerebrospinal fluid Central Nervous System Neoplasms / cerebrospinal fluid Male Female Middle Aged Aged Adult Aged, 80 and over Young Adult Adolescent Biomarkers, Tumor / cerebrospinal fluid High-Throughput Nucleotide Sequencing Child

Journal

Acta neuropathologica communications

ISSN: 2051-5960

Titre abrégé: Acta Neuropathol Commun

Pays: England

ID NLM: 101610673

Informations de publication

Date de publication:
17 Sep 2024

Historique:

received: 20 06 2024

accepted: 03 08 2024

medline: 18 9 2024

pubmed: 18 9 2024

entrez: 17 9 2024

Statut: epublish

Résumé

The characterization of genetic alterations in tumor samples has become standard practice for many human cancers to achieve more precise disease classification and guide the selection of targeted therapies. Cerebrospinal fluid (CSF) can serve as a source of tumor DNA in patients with central nervous system (CNS) cancer. We performed comprehensive profiling of CSF circulating tumor DNA (ctDNA) in 711 patients using an FDA-authorized platform (MSK-IMPACT™) in a hospital laboratory. We identified genetic alterations in 489/922 (53.0%) CSF samples with clinically documented CNS tumors. None of 85 CSF samples from patients without CNS tumors had detectable ctDNA. The distribution of clinically actionable somatic alterations was consistent with tumor-type specific alterations across the AACR GENIE cohort. Repeated CSF ctDNA examinations from the same patients identified clonal evolution and emergence of resistance mechanisms. ctDNA detection was associated with shortened overall survival following CSF collection. Next-generation sequencing of CSF, collected through a minimally invasive lumbar puncture in a routine hospital setting, provides clinically actionable cancer genotype information in a large fraction of patients with CNS tumors.

Identifiants

DOI: 10.1186/s40478-024-01846-4 PMID: 39289779

pubmed: 39289779

doi: 10.1186/s40478-024-01846-4

pii: 10.1186/s40478-024-01846-4

doi:

Substances chimiques

Circulating Tumor DNA 0

Biomarkers, Tumor 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

Pagination

151

Subventions

Organisme : NINDS NIH HHS

ID : R35 NS105109 03

Pays : United States

Organisme : NCI NIH HHS

ID : P30-CA008748

Pays : United States

Informations de copyright

Références

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