ArticleThe Journal of molecular diagnostics : JMD2021
Clinical Experience of Cerebrospinal Fluid-Based Liquid Biopsy Demonstrates Superiority of Cell-Free DNA over Cell Pellet Genomic DNA for Molecular Profiling.
Article in The Journal of molecular diagnostics : JMD, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 64 citations in OpenAlex.
- Using cell free DNA (cfDNA) and RNA (cfRNA) in the diagnosis and monitoring of primary and metastatic CNS tumors.The journal of liquid biopsy · 2026Article
- Low-input CSF cfDNA shallow whole-genome sequencing for CNV-based diagnosis and monitoring of leptomeningeal metastasis in lung cancer.Acta neuropathologica communications · 2026Article
- Cerebrospinal Fluid in Pediatric Neuro-Oncology: Molecular Diagnosis, Disease Monitoring, and Clinical Translation.International journal of molecular sciences · 2026Review
- Harmonizing definitions in liquid biopsy: A terminology framework by the international society of liquid biopsy.The journal of liquid biopsy · 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
- The Clinical Utility of Cell-Free DNA in Brain Tumor Management: A Comprehensive Review.Journal of molecular neuroscience : MN · 2025Review
- Cell-Free DNA, Tumor Molecular Concordance, and Clinical Correlates of Patients with Cancer Treated in a Large Community Health Care Network.The Journal of molecular diagnostics : JMD · 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
- Utility of Germline, Somatic and ctDNA Testing in Adults With Cancer.Cancer medicine · 2025Review
- Improving Global Access to Genomic Profiling in Rare Pediatric Cancers.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- Analytical Validation and Clinical Sensitivity of the Belay Summit Assay for the Detection of DNA Variants in Cerebrospinal Fluid of Primary and Metastatic Central Nervous System Cancer.The Journal of molecular diagnostics : JMD · 2025Article
- Minimum Technical Preanalytical, Patient, and Clinical Context Data Elements for Cerebrospinal Fluid Liquid Biopsy: Recommendations for Public Database Submissions.JCO precision oncology · 2025Article
- Clinical utility and predictive value of cerebrospinal fluid cell-free DNA profiling in non-small cell lung cancer patients with leptomeningeal metastasis.Neoplasia (New York, N.Y.) · 2025Article
- Leptomeningeal metastases from solid tumors: A Society for Neuro-Oncology and American Society of Clinical Oncology consensus review on clinical management and future directions.Neuro-oncology · 2024Review
- Real-world experience with circulating tumor DNA in cerebrospinal fluid from patients with central nervous system tumors.Acta neuropathologica communications · 2024Article
- Detection of tumor-derived cell-free DNA in cerebrospinal fluid using a clinically validated targeted sequencing panel for pediatric brain tumors.Journal of neuro-oncology · 2024Article
- Review
- Targeted detection of sequence variants in cell-free DNA from cerebrospinal fluid in pediatric central nervous system tumors.Frontiers in oncology · 2024Review
- Applications of cerebrospinal fluid circulating tumor cells and circulating tumor-derived DNA in diagnosis, prognosis, and personalized treatment of CNS metastases.Frontiers in oncology · 2024Review
- Leptomeningeal disease in melanoma: An update on the developments in pathophysiology and clinical care.Pigment cell & melanoma research · 2024Review
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Authors and funding
25 authors at 1 institution in 1 country.
Funding
Abstract
Cell-free DNA (cfDNA) from cerebrospinal fluid (CSF) offers unique opportunities for genomic profiling of tumors involving the central nervous system but remains uncommonly used in clinical practice. We describe our clinical experience using cfDNA from CSF for routine molecular testing using Memorial Sloan Kettering Integrated Mutation Profiling of Actionable Cancer Targets (targeting 468 cancer-related genes). In all, 148 cfDNA samples were assessed, comparing results of cfDNA versus genomic DNA (gDNA; gDNA from cell pellets) derived from the same CSF sample and the primary tumor. Of these, 71.6% (106/148) were successfully sequenced. Somatic alterations (mutations and fusions) were observed in 70.8% (75/106) of the samples; 97.3% (73/75) comprised variants confirming central nervous system involvement by a previously diagnosed tumor, 14.7% (11/75) had additional variants consistent with a therapy-related resistance mechanism, and 2.7% (2/75) had variants that independently diagnosed a new primary. Among samples with paired cfDNA and gDNA sequencing results, cfDNA was more frequently positive for at least one mutation [43.6% (55/126) versus 19.8% (25/126)] and harbored 1.6× more mutations (6.94 versus 4.65; P = 0.005), with higher mean variant allele fractions (41.1% versus 13.0%; P < 0.0001). Among mutation-positive cfDNAs, the corresponding gDNA was frequently negative (44.6%; 25/55) or failed sequencing (17.8%; 9/55). Routine molecular profiling of cfDNA is superior to gDNA from CSF, facilitating the capture of mutations at high variant allele frequency, even in the context of a negative cytology.
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Registered trials
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