ReviewFrontiers in cell and developmental biology2020
Beyond the Blood: CSF-Derived cfDNA for Diagnosis and Characterization of CNS Tumors.
Review in Frontiers in cell and developmental biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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Who cites it
60 citing papers in PubMed, 78 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
- Beyond variant detection: Mismatch repair gene alterations in plasma cell-free DNA from 1,226 glioma samples, and plasma-confirmed functional deficiency in an unbiopsied pontine glioma.The journal of liquid biopsy · 2026Article
- Multi-omic cell free DNA profiles of cerebral spinal fluid from lung cancer metastasis to the brain.NAR cancer · 2026Article
- Article
- Breast Cancer Brain Metastases: Current Understanding and Future Directions.Current oncology reports · 2026Review
- The Clinical Utility of Cell-Free DNA in Brain Tumor Management: A Comprehensive Review.Journal of molecular neuroscience : MN · 2025Review
- Nanopore-based cell-free DNA fragmentation and methylation profiles from the cerebral spinal fluid of patients with lung cancer brain metastases.bioRxiv : the preprint server for biology · 2025Article
- Epigenetic Profiling of Cell-Free DNA in Cerebrospinal Fluid: A Novel Biomarker Approach for Metabolic Brain Diseases.Life (Basel, Switzerland) · 2025Review
- Characterizing the molecular and spatial heterogeneity of midline gliomas in adults: a single institution analysis.Journal of neuro-oncology · 2025Article
- The emerging role of circulating tumor DNA in brain tumor research.IBRO neuroscience reports · 2025Review
- A field resource for the glioma cerebrospinal fluid proteome: Impacts of resection and location on biomarker discovery.Neuro-oncology · 2025Article
- Nanopore-based consensus sequencing enables accurate multimodal tumor cell-free DNA profiling.Genome research · 2025Article
- Protocol for Extracting Circulating Cell-Free DNA from Murine Saliva: Insights into Oral and Systemic Disease Research.bioRxiv : the preprint server for biology · 2025Article
- The Potential of cfDNA as Biomarker: Opportunities and Challenges for Neurodegenerative Diseases.Journal of molecular neuroscience : MN · 2025Review
- Extracellular Histones Profiles of Pediatric H3K27-Altered Diffuse Midline Glioma.Molecular diagnosis & therapy · 2025Article
- Advances in cfDNA research for pregnancy-related diseases.Frontiers in cell and developmental biology · 2025Review
- Liquid biopsy for evaluating mutations and chromosomal aberrations in cerebrospinal fluid from patients with primary or metastatic CNS tumors.The journal of liquid biopsy · 2024Article
- Article
- A comprehensive overview of liquid biopsy applications in pediatric solid tumors.NPJ precision oncology · 2024Review
- Innovation in Non-Invasive Diagnosis and Disease Monitoring for Meningiomas.International journal of molecular sciences · 2024Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic data are rapidly becoming part of tumor classification and are integral to prognosis and predicting response to therapy. Current molecular tumor profiling relies heavily on tissue resection or biopsy. Tissue profiling has several disadvantages in tumors of the central nervous system, including the challenge associated with invasive biopsy, the heterogeneous nature of many malignancies where a small biopsy can underrepresent the mutational profile, and the frequent lack of obtaining a repeat biopsy, which limits routine monitoring to assess therapy response and/or tumor evolution. Circulating tumor, cell-free DNA (cfDNA), has been proposed as a liquid biopsy to address some limitations of tissue-based genetics. In cancer patients, a portion of cfDNA is tumor-derived and may contain somatic genetic alterations. In central nervous system (CNS) neoplasia, plasma tumor-derived cfDNA is very low or absent, likely due to the blood brain barrier. Interrogating cfDNA in cerebrospinal fluid (CSF) has several advantages. Compared to blood, CSF is paucicellular and therefore predominantly lacks non-tumor cfDNA; however, patients with CNS-limited tumors have significantly enriched tumor-derived cfDNA in CSF. In patients with metastatic CNS disease, mutations in CSF cfDNA are most concordant with the intracranial process. CSF cfDNA can also occasionally uncover additional genetic alterations absent in concurrent biopsy specimens, reflecting tumor heterogeneity. Although CSF is enriched for tumor-derived cfDNA, absolute quantities are low. Highly sensitive, targeted methods including next-generation sequencing and digital PCR are required to detect mutations in CSF cfDNA. Additional technical and bioinformatic approaches also facilitate enhanced ability to detect tumor mutations in CSF cfDNA.
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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.