Evidence map›Paper›PMID 42294888›Full record

Trial reportThe Journal of clinical investigation2026

Tumor-derived cell-free DNA detected in cerebrospinal fluid enables minimally invasive profiling of pediatric brain tumors.

Liana Nobre, Yoshiko Nakano, Ian Burns, Robert Siddaway, Michal Zápotocky, Monique Johnson, Mansuba Rana, Cyril Li, Rodney K Lyn, Richard Yuditskiy and 24 more

Abstract readClinical Trial
PubMed Full text at PMC Publisher
In one paragraph

Trial report in The Journal of clinical investigation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

34 authors.

Liana NobreDivision of Hematology/Oncology (iHOPE), Stollery Children's Hospital, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
Yoshiko NakanoDivision of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Ian BurnsDepartment of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada.
Robert SiddawayArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Michal ZápotockyDepartment of Paediatric Haematology and Oncology, Charles University, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
Monique JohnsonDepartment of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Mansuba RanaDepartment of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Cyril LiDepartment of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Rodney K LynDepartment of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Richard YuditskiyDepartment of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Michelle KuDepartment of Pediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.
Javal ShethArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Adrian B LevineArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Cody L NesvickDivision of Neurosurgery, The Hospital for Sick Children, Toronto, Ontario, Canada.
Anirban DasArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Chantel CacciottiChildren's Hospital London Health Sciences/Western University, London, Ontario, Canada.
Shayna ZelcerChildren's Hospital London Health Sciences/Western University, London, Ontario, Canada.
Seth A ClimansDepartment of Clinical Neurological Sciences, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.
Maria MacDonaldDepartment of Oncology, London Health Sciences Centre, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada.
Logine NegmArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Jiil ChungArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Julie BennettArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Andrew BondocArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Jim LoukidesArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Lucie StengsArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Melissa EdwardsArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Eric BouffetArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Vijay RamaswamyArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Anthony Py LiuArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Annie HuangArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Ute BartelsDivision of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Peter B DirksArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Uri TaboriArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.
Cynthia HawkinsArthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, Ontario, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUNDLiquid biopsy has emerged as a minimally invasive method for tumor diagnosis, monitoring, and therapeutic guidance. For CNS tumors, cerebrospinal fluid (CSF) provides a reliable and accessible source of tumor-derived cell-free DNA (ctDNA).METHODSThis study evaluates the clinical utility of CSF liquid biopsy in a real-world prospective setting. A total of 148 CSF samples from 120 patients underwent molecular analysis using droplet digital PCR (ddPCR) and/or next-generation sequencing to detect mutations, fusions, copy number alterations, and mismatch-repair deficient signatures (MMRDness). Samples were collected via lumbar puncture (n = 82; 45% ctDNA positive) or from ventricle sources at the time of surgery or through shunts (n = 66; 65% ct DNA positive).RESULTSOverall, ctDNA was detected in 54% of samples with higher detection in high-grade gliomas at diagnosis (100%, 1 sample equivocal) compared with low-grade gliomas (50%). Among low-grade gliomas, ctDNA detection was higher in disseminated cases (80% versus 43%) and from ventricular versus lumbar samples (56% versus 38%).CONCLUSIONLiquid biopsy distinguished relapse from second malignancy and serial sampling demonstrated the potential for ctDNA levels to track treatment response and disease progression. In patients with MMRD tumors, high MMRDness score from ctDNA supported active disease. These findings demonstrate that combined liquid biopsy assays facilitate diagnosis, monitoring, and personalized treatment decisions, offering a viable alternative to invasive surgical biopsies in pediatric CNS tumors.TRIAL REGISTRATIONNone.FUNDINGProof of Principle Grant from The Hospital for Sick Children; The Canadian Institutes of Health Research; The Canadian Cancer Society; The We Love You Connie Foundation; Garron Family Cancer Center at SickKids; SickKids Clinician Training Program; Ben Stelter Foundation through the Women and Children's Health Research Institute; Jeffrey Brock Cancer Genetics Research Fellowship; Garron Family Cancer Center Research Fellowship/Scotiabank Clinician Scientist Fellowship; Atrium/CMCC and Hold'em for Life Oncology Fellowship; Tokyo Children's Cancer Study Group Scholarship of the Gold Ribbons Network.

Indexed as

Brain NeoplasmsCirculating Tumor DNADNA, NeoplasmGliomaAdolescentBiomarkers, TumorChildChild, PreschoolFemaleHumansInfantMaleProspective StudiesBiomarkers, TumorCirculating Tumor DNADNA, NeoplasmBrain cancerDrug therapyGeneticsMolecular diagnosisNeuroscienceOncology

Identifiers

PMID42294888
PMCPMC13262732

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Registered trials

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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.