ArticleNeuro-oncology advances
Droplet digital PCR-based detection of circulating tumor DNA from pediatric high grade and diffuse midline glioma patients.
Article in Neuro-oncology advances. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 2 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, 2 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- An update of clinical value of circulating tumor DNA in esophageal cancer: a systematic review and meta-analysis.BMC cancer · 2024Pooled it
- Cerebrospinal Fluid biomarkers in pediatric brain tumors: A systematic review.Neoplasia (New York, N.Y.) · 2023Pooled it
- Tumor-derived cell-free DNA detected in cerebrospinal fluid enables minimally invasive profiling of pediatric brain tumors.The Journal of clinical investigation · 2026Trial
- Cerebrospinal fluid cell-free DNA sequencing in pediatric CNS tumors: towards liquid molecular neuropathology.Acta neuropathologica · 2026Review
- Noninvasive enrichment of circulating tumor biomarkers in a mouse model of diffuse midline glioma using focused ultrasound.Neuro-oncology advances · 2026Review
- Extracellular Vesicles in the Biology and Liquid Biopsy Diagnostics of Pediatric High-Grade Glioma - Emerging Findings and Opportunities.Journal of extracellular biology · 2026Review
- Cerebrospinal Fluid in Pediatric Neuro-Oncology: Molecular Diagnosis, Disease Monitoring, and Clinical Translation.International journal of molecular sciences · 2026Review
- Liquid biopsy of plasma and urinary CfDNA differentiates glioma recurrence from radiation brain necrosis in preclinical models.Scientific reports · 2026Article
- MUTE-Seq: An Ultrasensitive Method for Detecting Low-Frequency Mutations in cfDNA With Engineered Advanced-Fidelity FnCas9.Advanced materials (Deerfield Beach, Fla.) · 2025Article
- Preanalytical variables and analytes in liquid biopsy approach for brain tumors: A comprehensive review and recommendations from the RANO Group and the Brain Liquid Biopsy Consortium.Neuro-oncology · 2025Review
- Establishment of xenografts and methods to evaluate tumor burden for the three most frequent subclasses of pediatric-type diffuse high grade gliomas.Journal of neuro-oncology · 2025Article
- Single-molecule systems for the detection and monitoring of plasma-circulating nucleosomes and oncoproteins in diffuse midline glioma.Cell reports. Medicine · 2025Article
- Liquid biopsy: Comprehensive overview of circulating tumor DNA (Review).Oncology letters · 2024Review
- Diagnosis of pediatric central nervous system tumors using methylation profiling of cfDNA from cerebrospinal fluid.Clinical epigenetics · 2024Article
- Droplet digital PCR analysis of CDH13 methylation status in Slovak women with invasive ductal breast cancer.Scientific reports · 2024Article
- Efficient DNA Coding Algorithm for Polymerase Chain Reaction Amplification Information Retrieval.International journal of molecular sciences · 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
- Liquid biopsy in H3K27M diffuse midline glioma.Neuro-oncology · 2024Review
- Rational combination platform trial design for children and young adults with diffuse midline glioma: A report from PNOC.Neuro-oncology · 2024Article
- D-Loop Mutations as Prognostic Markers in Glioblastoma-A Pilot Study.International journal of molecular sciences · 2024Article
Corrections and comments
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Authors and funding
23 authors at 11 institutions in 6 countries.
Funding
Abstract
backgroundThe use of liquid biopsy is of potential high importance for children with high grade (HGG) and diffuse midline gliomas (DMG), particularly where surgical procedures are limited, and invasive biopsy sampling not without risk. To date, however, the evidence that detection of cell-free DNA (cfDNA) or circulating tumor DNA (ctDNA) could provide useful information for these patients has been limited, or contradictory.
methodsWe optimized droplet digital PCR (ddPCR) assays for the detection of common somatic mutations observed in pediatric HGG/DMG, and applied them to liquid biopsies from plasma, serum, cerebrospinal fluid (CSF), and cystic fluid collected from 32 patients.
resultsAlthough detectable in all biomaterial types, ctDNA presented at significantly higher levels in CSF compared to plasma and/or serum. When applied to a cohort of 127 plasma specimens from 41 patients collected from 2011 to 2018 as part of a randomized clinical trial in pediatric non-brainstem HGG/DMG, ctDNA profiling by ddPCR was of limited use due to the small volumes (mean = 0.49 mL) available. In anecdotal cases where sufficient material was available, cfDNA concentration correlated with disease progression in two examples each of poor response in
conclusionTumor-specific DNA alterations are more readily detected in CSF than plasma. Although we demonstrate the potential of the approach to assessing tumor burden, our results highlight the necessity for adequate sample collection and approach to improve detection if plasma samples are to be used.
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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.