ArticleThoracic cancer2020
Detection of circulating tumor DNA from non-small cell lung cancer brain metastasis in cerebrospinal fluid samples.
Article in Thoracic cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 6 of them syntheses that pooled it.
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Who cites it
65 citing papers in PubMed, 6 syntheses or guidelines pooled it, 88 citations in OpenAlex.
- Association of Circulating Tumor DNA With Brain Metastases: A Systematic Review and Meta-Analysis.CNS neuroscience & therapeutics · 2026Pooled it
- Pooled it
- [Clinical Practice Guidelines for the Management of Brain Metastases from Non-small Cell Lung Cancer with Actionable Gene Alterations in China (2025 Edition)].Zhongguo fei ai za zhi = Chinese journal of lung cancer · 2025Guideline
- Liquid biopsy in the setting of leptomeningeal metastases: a systematic review and meta-analysis.Journal of neuro-oncology · 2023Pooled it
- Pooled it
- Brain metastases: A Society for Neuro-Oncology (SNO) consensus review on current management and future directions.Neuro-oncology · 2022Guideline
- Review
- Advances in cerebrospinal fluid biomarkers for the diagnosis, treatment and monitoring of leptomeningeal metastases (Review).Oncology letters · 2026Review
- Targeting MET in non-small cell lung cancer brain metastases: from molecular mechanism to precision therapy.Journal of translational medicine · 2026Review
- The Impact of Minimal Residual Disease (MRD) Testing on the Decision-Making Process in Non-Small-Cell Lung Cancer (NSCLC).Cancers · 2026Article
- Integrating liquid biopsy and mutational signatures to advance precision oncology.NPJ precision oncology · 2026Review
- MET alterations are enriched in lung adenocarcinoma brain metastases, defining a distinct biologic subtype.The Journal of clinical investigation · 2026Article
- Brain radiotherapy combined with immune checkpoint inhibitors and chemotherapy as first-line treatment for advanced non-small cell lung cancer with brain metastases: a retrospective study.BMC immunology · 2026Article
- Comprehensive Liquid Biopsy Approaches for the Clinical Management of Lung Cancer Using Multiple Biological Matrices.International journal of molecular sciences · 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
- Advances in the research of leptomeningeal metastases in non-small cell lung cancer: a narrative review.Translational lung cancer research · 2025Review
- The emerging role of circulating tumor DNA in brain tumor research.IBRO neuroscience reports · 2025Review
- Liquid biopsies for the monitoring of gliomas and brain metastases in adults.Acta neuropathologica · 2025Review
- Next-generation sequencing of circulating tumor DNA in cerebrospinal fluid for detecting gene mutations in central nervous system lymphoma patients.Therapeutic advances in hematology · 2025Article
- Detection of circulating hybrid cells and circulating tumor cells in cerebrospinal fluid for leptomeningeal metastasis diagnosis and therapeutic prediction.Frontiers in cell and developmental biology · 2025Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundEvaluating the molecular characteristics of brain metastases is limited by difficult access and by the blood-brain barrier, which prevents circulating tumor DNA (ctDNA) from entering the blood. In this study, we aimed to compare the sequencing results from cerebrospinal fluid (CSF) ctDNA versus plasma ctDNA, plasma circulating tumor cells (CTCs), and brain tissue specimens from patients with brain metastasis from non-small cell lung cancer (NSCLC).
methodsThis was a prospective study of 21 consecutive patients with NSCLC and brain metastasis diagnosed between April 2018 and January 2019. Samples of CSF and peripheral blood were obtained from all 21 patients. Brain tissues were obtained from five patients after surgical resection. Next-generation sequencing was performed using the Ion system. Single nucleotide variants (SNVs) and small insertions or deletions (indels) were searched.
resultsMutations were detected in the CSF ctDNA of 20 (95.2%) patients. The detection rate of epidermal growth factor receptor (EGFR) mutations in CSF ctDNA was 57.1% (12/21) whereas this rate was only 23.8% (5/21) in peripheral blood ctDNA and in CTCs. EGFR mutations were found in the CSF of 9 of 11 (81.8%) patients with leptomeningeal metastases, as compared with three of 10 (30%) patients with brain parenchymal metastases. Mutations were also detected in KIT, PIK3CA, TP53, SMAD4, ATM, SMARCB1, PTEN, FLT3, GNAS, STK11, MET, CTNNB1, APC, FBXW7, ERBB4, and KDR (all >10%). The status of EGFR and TP53 mutations was consistent between CSF ctDNA and brain lesion tissue in all five patients.
conclusionSequencing of CSF ctDNA revealed specific mutation patterns in driver genes among patients with NSCLC and brain metastasis. KEY POINTS: In some small-sample studies, the importance of cerebrospinal fluid in guiding the treatment of cancerous brain lesions has been verified in that it may reflect genomic mutations of brain tumors relatively accurately. Cerebrospinal fluid is a new form of liquid biopsy that can be helpful in improving the management of patients with brain metastasis from non-small cell lung cancer by detecting genetic abnormalities specific to brain metastases.
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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 Socratic graph.