Evidence map›Paper›PMID 36757207›Full record

ArticleNeuro-oncology2023

Efficient detection and monitoring of pediatric brain malignancies with liquid biopsy based on patient-specific somatic mutation screening.

Marija Kojic, Mellissa K Maybury, Nicola Waddell, Lambros T Koufariotis, Venkateswar Addala, Amanda Millar, Scott Wood, John V Pearson, Jordan R Hansford, Tim Hassall and 1 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neuro-oncology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 1 pooled it
10.3field-weighted citation impact, top 2% of its field
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

24 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.

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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

11 authors at 3 institutions in 1 country.

Marija KojicFrazer Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia.
Mellissa K MayburyQueensland Children's Tumor Bank, The University of Queensland, Child Health Research Centre, South Brisbane, Queensland 4101, Australia.
Nicola WaddellMedical Genomics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland 4006, Australia.
Lambros T KoufariotisMedical Genomics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland 4006, Australia.
Venkateswar AddalaMedical Genomics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland 4006, Australia.
Amanda MillarFrazer Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia.
Scott WoodMedical Genomics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland 4006, Australia.
John V PearsonMedical Genomics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland 4006, Australia.
Jordan R HansfordChildren's Cancer Centre, Royal Children's Hospital, Murdoch Children's Research Institute, University of Melbourne, Melbourne, Australia.
Tim HassallOncology Service, Queensland Children's Hospital, Children's Health Queensland Hospital and Health Service, Brisbane, Queensland 4101, Australia.
Brandon J WainwrightFrazer Institute, The University of Queensland, Woolloongabba, Queensland 4102, Australia.ORCID 0000-0003-0406-2092
QIMR Berghofer Medical Research Institute · AUThe University of Queensland · AURoyal Children's Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundBrain cancer is the leading cause of cancer-related death in children. Early detection and serial monitoring are essential for better therapeutic outcomes. Liquid biopsy has recently emerged as a promising approach for detecting these tumors by screening body fluids for the presence of circulating tumor DNA (ctDNA). Here we tested the limits of liquid biopsy using patient-specific somatic mutations to detect and monitor primary and metastatic pediatric brain cancer.

methodsSomatic mutations were identified in 3 ependymoma, 1 embryonal tumor with multilayered rosettes, 1 central nervous system neuroblastoma, and 7 medulloblastoma patients. The mutations were used as liquid biomarkers for serial assessment of cerebrospinal fluid (CSF) samples using a droplet digital PCR (ddPCR) system. The findings were correlated to the imaging data and clinical assessment to evaluate the utility of the approach for clinical translation.

resultsWe developed personalized somatic mutation ddPCR assays which we show are highly specific, sensitive, and efficient in detection and monitoring of ctDNA, with a positive correlation between presence of ctDNA, disease course, and clinical outcomes in the majority of patients.

conclusionsWe demonstrate the feasibility and clinical utility of personalized mutation-based liquid biopsy for the surveillance of brain cancer in children. However, even with this specific and sensitive approach, we identified some potential false negative analyses. Overall, our results indicate that changes in ctDNA profiles over time demonstrate the great potential of our specific approach for predicting tumor progression, burden, and response to treatment.

Indexed as

Brain NeoplasmsCirculating Tumor DNABiomarkers, TumorChildHumansLiquid BiopsyMutationBiomarkers, TumorCirculating Tumor DNACSFctDNAliquid biopsypediatric brain cancersomatic mutations

Identifiers

PMID36757207
PMCPMC10398816
OpenAlexW4319656852

What OpenQuestion holds

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LicenceCC BY-NC
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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.