ArticleClinical cancer research : an official journal of the American Association for Cancer Research2022
Assessing CSF ctDNA to Improve Diagnostic Accuracy and Therapeutic Monitoring in Breast Cancer Leptomeningeal Metastasis.
Article in Clinical cancer research : an official journal of the American Association for Cancer Research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 4 of them syntheses that pooled it.
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The trial behind it
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.
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Who cites it
55 citing papers in PubMed, 4 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- Association of Circulating Tumor DNA With Brain Metastases: A Systematic Review and Meta-Analysis.CNS neuroscience & therapeutics · 2026Pooled it
- Cerebrospinal fluid ctDNA as a prognostic and disease-activity biomarker in leptomeningeal metastases: systematic review, meta-analysis, and implications for CSF-guided care.Journal of neuro-oncology · 2026Pooled it
- Liquid biopsy in the setting of leptomeningeal metastases: a systematic review and meta-analysis.Journal of neuro-oncology · 2023Pooled it
- Leptomeningeal metastasis from solid tumours: EANO-ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up.ESMO open · 2023Guideline
- Review
- Low-input CSF cfDNA shallow whole-genome sequencing for CNV-based diagnosis and monitoring of leptomeningeal metastasis in lung cancer.Acta neuropathologica communications · 2026Article
- Biological basis and clinical translation prospects of circulating cell-free DNA in precision management of breast cancer (Review).Oncology letters · 2026Review
- Transcriptionally Informed Nucleosome Profiling of Circulating Cell-Free DNA Predicts Breast Cancer Recurrence.Cancer research communications · 2026Article
- Advances in cerebrospinal fluid biomarkers for the diagnosis, treatment and monitoring of leptomeningeal metastases (Review).Oncology letters · 2026Review
- Decoding Brain Metastasis With Liquid Biopsy: Biomarkers and Technologies in EGFR-Mutant NSCLC.Cancer medicine · 2026Review
- Cellular landscape and diagnostic value of TROP2 in cerebrospinal fluid of lung adenocarcinoma leptomeningeal metastases.NPJ precision oncology · 2026Article
- CSF proteomics identifies ADGRG1 as a predictive biomarker of intrathecal immune checkpoint inhibitor response in leptomeningeal metastasis.Journal for immunotherapy of cancer · 2026Article
- Review
- Detection of actionable mutations in the cerebrospinal fluid and concordance/discordance with extracranial mutations in patients with metastatic breast cancer and leptomeningeal disease.Therapeutic advances in medical oncology · 2026Article
- The Clinical Utility of Cell-Free DNA in Brain Tumor Management: A Comprehensive Review.Journal of molecular neuroscience : MN · 2025Review
- ctDNA detectability and representativeness in seven body liquids from patients with metastatic breast cancer.Nature communications · 2025Article
- Decoding the mechanisms underlying breast cancer brain metastasis: paving the way for precision therapeutics.Biomarker research · 2025Review
- Multi-Biofluid Approaches for cftDNA and cftRNA Biomarker Detection: Advances in Early Cancer Detection and Monitoring.Current issues in molecular biology · 2025Review
- 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
- Bridging the Gap in Breast Cancer Dormancy: Models, Mechanisms, and Translational Challenges.Pharmaceuticals (Basel, Switzerland) · 2025Review
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeCerebrospinal fluid (CSF) cytology is the gold standard diagnostic test for breast cancer leptomeningeal metastasis (BCLM), but has impaired sensitivity, often necessitating repeated lumbar puncture to confirm or refute diagnosis. Further, there is no quantitative response tool to assess response or progression during BCLM treatment. EXPERIMENTAL
designFacing the challenge of working with small-volume samples and the lack of common recurrent mutations in breast cancers, cell-free DNA was extracted from the CSF and plasma of patients undergoing investigation for BCLM (n = 30). ctDNA fraction was assessed by ultra-low-pass whole genome sequencing (ulpWGS), which does not require prior tumor sequencing.
resultsIn this proof-of-concept study, ctDNA was detected (fraction ≥0.10) in the CSF of all 24 patients with BCLM+ (median ctDNA fraction, 0.57), regardless of negative cytology or borderline MRI imaging, whereas CSF ctDNA was not detected in the six patients with BCLM- (median ctDNA fraction 0.03, P < 0.0001). Plasma ctDNA was only detected in patients with extracranial disease progression or who had previously received whole brain radiotherapy. ctDNA fraction was highly concordant with mutant allele fraction measured by tumor mutation-specific ddPCR assays (r = 0.852; P < 0.0001). During intrathecal treatment, serial monitoring (n = 12 patients) showed that suppression of CSF ctDNA fraction was associated with longer BCLM survival (P = 0.034), and rising ctDNA fraction was detectable up to 12 weeks before clinical progression.
conclusionsMeasuring ctDNA fraction by ulpWGS is a quantitative marker demonstrating potential for timely and accurate BCLM diagnosis and therapy response monitoring, with the ultimate aim to improve management of this poor-prognosis patient group.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.