ArticleActa neuropathologica communications2024
Real-world experience with circulating tumor DNA in cerebrospinal fluid from patients with central nervous system tumors.
Article in Acta neuropathologica communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pooled it
- Cerebrospinal fluid ctDNA as a diagnostic and prognostic tool in gliomas: a systematic review and meta-analysis.Frontiers in oncology · 2025Pooled it
- Clinical Implementation and Oncological Relevance of Molecular Profiling in Brain Metastases Patients-A Multicenter Retrospective Cohort Study.International journal of cancer · 2026Article
- Early experience with cerebrospinal fluid cell-free DNA molecular profiling in a neuro-oncology practice.Journal of neuro-oncology · 2026Article
- Exploring the landscape of targetable alterations in patients with glioblastoma.Nature reviews. Clinical oncology · 2026Review
- Cerebrospinal Fluid in Pediatric Neuro-Oncology: Molecular Diagnosis, Disease Monitoring, and Clinical Translation.International journal of molecular sciences · 2026Review
- Clinician perspectives on the clinical utility of Belay Summit™ 2.0 cerebrospinal fluid test - A mixed methods study.The journal of liquid biopsy · 2026Article
- Clinical Characteristics and Prognosis of Primary Central Nervous System Lymphoma: A Retrospective Analysis.Cancers · 2026Article
- MRI-based morphological and spatial characteristics of leptomeningeal metastasis: prognostic value in non-small cell lung cancer.Frontiers in oncology · 2026Article
- Detection of Human Brain Cancers using Genomic and Immune Cell Characterization of Cerebrospinal Fluid through CSF-BAM.Cancer discovery · 2025Article
- Next-Generation Sequencing of Intraoperatively Acquired Cerebrospinal Fluid and Matched Tumor Tissue in Patients Undergoing Surgical Resection for Glioblastoma.JCO precision oncology · 2025Article
- Demonstrating the clinical utility of genomic profiling using cerebrospinal fluid to inform management of central nervous system tumors - a meta analysis of the literature.The journal of liquid biopsy · 2025Review
- Review
- Emerging biomarkers for early cancer detection and diagnosis: challenges, innovations, and clinical perspectives.European journal of medical research · 2025Review
- Cerebrospinal Fluid-Derived Genomic Alterations Tracking Glioma.Journal of molecular neuroscience : MN · 2025Article
- Neurooncology: 2025 update.Free neuropathology · 2025Review
- A feasibility study of enzymatic methylation sequencing of cell-free DNA from cerebrospinal fluid of pediatric central nervous system tumor patients for molecular classification.Neuro-oncology advancesArticle
Corrections and comments
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Authors and funding
32 authors.
Funding
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-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.
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