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dc.contributor.authorIzquierdo, E
dc.contributor.authorProszek, P
dc.contributor.authorPericoli, G
dc.contributor.authorTemelso, S
dc.contributor.authorClarke, M
dc.contributor.authorCarvalho, DM
dc.contributor.authorMackay, A
dc.contributor.authorMarshall, LV
dc.contributor.authorCarceller, F
dc.contributor.authorHargrave, D
dc.contributor.authorLannering, B
dc.contributor.authorPavelka, Z
dc.contributor.authorBailey, S
dc.contributor.authorEntz-Werle, N
dc.contributor.authorGrill, J
dc.contributor.authorVassal, G
dc.contributor.authorRodriguez, D
dc.contributor.authorMorgan, PS
dc.contributor.authorJaspan, T
dc.contributor.authorMastronuzzi, A
dc.contributor.authorVinci, M
dc.contributor.authorHubank, M
dc.contributor.authorJones, C
dc.date.accessioned2021-08-10T13:24:31Z
dc.date.available2021-08-10T13:24:31Z
dc.date.issued2021-01-27
dc.identifier.citationNeuro-oncology advances, 2021, 3 (1), pp. vdab013 - ?
dc.identifier.issn2632-2498
dc.identifier.urihttps://repository.icr.ac.uk/handle/internal/4730
dc.identifier.eissn2632-2498
dc.identifier.doi10.1093/noajnl/vdab013
dc.description.abstractBackground The 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.Methods We 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.Results Although 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 H3F3A _K27M-mutant DMG, and longer survival times in hemispheric BRAF _V600E-mutant cases.Conclusion Tumor-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.
dc.formatElectronic-eCollection
dc.format.extentvdab013 - ?
dc.languageeng
dc.language.isoeng
dc.rights.urihttps://creativecommons.org/licenses/by/4.0
dc.titleDroplet digital PCR-based detection of circulating tumor DNA from pediatric high grade and diffuse midline glioma patients.
dc.typeJournal Article
dcterms.dateAccepted2021-01-27
rioxxterms.versionVoR
rioxxterms.versionofrecord10.1093/noajnl/vdab013
rioxxterms.licenseref.urihttps://creativecommons.org/licenses/by/4.0
rioxxterms.licenseref.startdate2021-01-27
rioxxterms.typeJournal Article/Review
dc.relation.isPartOfNeuro-oncology advances
pubs.issue1
pubs.notesNo embargo
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics/Glioma Team
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Glioma Team
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Translational Genomics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Translational Genomics/Translational Genomics (hon.)
pubs.organisational-group/ICR
pubs.organisational-group/ICR/Primary Group
pubs.organisational-group/ICR/Primary Group/ICR Divisions
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Cancer Therapeutics/Glioma Team
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Glioma Team
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Translational Genomics
pubs.organisational-group/ICR/Primary Group/ICR Divisions/Molecular Pathology/Translational Genomics/Translational Genomics (hon.)
pubs.publication-statusPublished
pubs.volume3
pubs.embargo.termsNo embargo
icr.researchteamGlioma Team
icr.researchteamTranslational Genomics
icr.researchteamGlioma Teamen_US
icr.researchteamTranslational Genomicsen_US
dc.contributor.icrauthorJones, Chrisen
dc.contributor.icrauthorHubank, Michaelen


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