ArticleNeurospine2023
Detection of Glioma-Related Hotspot Mutations Through Sequencing of Cerebrospinal Fluid (CSF)-Derived Circulating Tumor DNA: A Pilot Study on CSF-Based Liquid Biopsy for Primary Spinal Cord Astrocytoma.
Article in Neurospine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- Cell-free DNA from cerebrospinal fluid cytology specimens as a novel liquid biopsy approach for pediatric patients with primary central nervous system tumors.Acta neuropathologica communications · 2026Article
- Temporal and spatial variations in CSF pressure are influenced by electrical stimulation of the OCI muscles in beagles.Scientific reports · 2025Article
- The emerging role of circulating tumor DNA in brain tumor research.IBRO neuroscience reports · 2025Review
- Astrocytomas of the spinal cord.Neuro-oncology advances · 2024Review
- Intramedullary pediatric low-grade glioma of the spine.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Morphogenetic Designs, and Disease Models in Central Nervous System Organoids.International journal of molecular sciences · 2024Review
- Review
- Diagnosis of pediatric central nervous system tumors using methylation profiling of cfDNA from cerebrospinal fluid.Clinical epigenetics · 2024Article
- Clinical implications of CSF-ctDNA positivity in newly diagnosed diffuse large B cell lymphoma.Leukemia · 2024Article
- A rare case of atypical intradural extramedullary glioblastoma diagnosed utilizing next-generation sequencing and methylation profiling: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- Sequencing of cerebrospinal fluid cell-free DNA facilitated early differential diagnosis of intramedullary spinal cord tumors.NPJ precision oncology · 2024Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveAlthough cerebrospinal fluid (CSF)-based liquid biopsy was proved to be practical in molecular analysis of intracranial gliomas, liquid biopsy of primary intramedullary astrocytoma was rarely reported. Given the distinct genomic profiles between primary intramedullary glioma and intracranial astrocytoma, whether the feasibility of CSF-based molecular analysis of intracranial gliomas can be replicated in primary spinal cord astrocytoma needs to be investigated. The aim of this pilot study is to evaluate the feasibility of molecular analysis of primary intramedullary astrocytoma through sequencing CSF-derived circulating tumor DNA (ctDNA).
methodsTwo grade IV diffuse midline gliomas, 1 grade II, and 1 grade I astrocytoma were included. Intraoperative collection of peripheral blood and CSF samples was conducted, along with postoperative collection of matched tumor tissues. A panel covering the 1,021 most common driver genes of solid tumors was used for targeted DNA sequencing.
resultsCSF-derived ctDNA was detected in 3 CSF samples (2 grade IV diffuse midline gliomas and 1 grade I astrocytoma), 5 mutations were found in both tumor tissues and CSF samples, while 11 mutations and 20 mutations were detected exclusively in tumor tissues and CSF samples, respectively. Importantly, hotspot genetic alterations, including H3F3A K28M, TP53, and ATRX, were identified in CSF and the average mutant allele frequency was often higher in CSF than in tumor tissues.
conclusionCSF-based liquid biopsy showed potential feasibility for molecular analysis of primary intramedullary astrocytoma through sequencing of ctDNA. This approach may assist in diagnosis and prognostic evaluation of this rare spinal cord tumor.
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