Back to Search
Start Over
Real-world experience with circulating tumor DNA in cerebrospinal fluid from patients with central nervous system tumors.
- Source :
-
Acta neuropathologica communications [Acta Neuropathol Commun] 2024 Sep 17; Vol. 12 (1), pp. 151. Date of Electronic Publication: 2024 Sep 17. - Publication Year :
- 2024
-
Abstract
- 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-IMPACTâ„¢) 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.<br /> (© 2024. The Author(s).)
- Subjects :
- Humans
Male
Female
Middle Aged
Aged
Adult
Aged, 80 and over
Young Adult
Adolescent
Biomarkers, Tumor cerebrospinal fluid
Biomarkers, Tumor blood
Biomarkers, Tumor genetics
High-Throughput Nucleotide Sequencing
Child
Circulating Tumor DNA cerebrospinal fluid
Circulating Tumor DNA blood
Circulating Tumor DNA genetics
Central Nervous System Neoplasms cerebrospinal fluid
Central Nervous System Neoplasms genetics
Central Nervous System Neoplasms blood
Subjects
Details
- Language :
- English
- ISSN :
- 2051-5960
- Volume :
- 12
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Acta neuropathologica communications
- Publication Type :
- Academic Journal
- Accession number :
- 39289779
- Full Text :
- https://doi.org/10.1186/s40478-024-01846-4