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Droplet digital PCR-based detection of circulating tumor DNA from pediatric high grade and diffuse midline glioma patients

E. Izquierdo, P. Proszek, G. Pericoli, S. Temelso, M. Clarke, DM. Carvalho, A. Mackay, LV. Marshall, F. Carceller, D. Hargrave, B. Lannering, Z. Pavelka, S. Bailey, N. Entz-Werle, J. Grill, G. Vassal, D. Rodriguez, PS. Morgan, T. Jaspan, A....

. 2021 ; 3 (1) : vdab013. [pub] 20210127

Jazyk angličtina Země Velká Británie

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc21018258

Background: 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.

Citace poskytuje Crossref.org

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$a Background: The use of liquid biopsy is of potential high importance for children with high grade (HGG) and diffuse midline gliomas (DMG), particularly where surgical procedures are limited, and invasive biopsy sampling not without risk. To date, however, the evidence that detection of cell-free DNA (cfDNA) or circulating tumor DNA (ctDNA) could provide useful information for these patients has been limited, or contradictory. Methods: We optimized droplet digital PCR (ddPCR) assays for the detection of common somatic mutations observed in pediatric HGG/DMG, and applied them to liquid biopsies from plasma, serum, cerebrospinal fluid (CSF), and cystic fluid collected from 32 patients. Results: Although detectable in all biomaterial types, ctDNA presented at significantly higher levels in CSF compared to plasma and/or serum. When applied to a cohort of 127 plasma specimens from 41 patients collected from 2011 to 2018 as part of a randomized clinical trial in pediatric non-brainstem HGG/DMG, ctDNA profiling by ddPCR was of limited use due to the small volumes (mean = 0.49 mL) available. In anecdotal cases where sufficient material was available, cfDNA concentration correlated with disease progression in two examples each of poor response in H3F3A_K27M-mutant DMG, and longer survival times in hemispheric BRAF_V600E-mutant cases. Conclusion: Tumor-specific DNA alterations are more readily detected in CSF than plasma. Although we demonstrate the potential of the approach to assessing tumor burden, our results highlight the necessity for adequate sample collection and approach to improve detection if plasma samples are to be used.
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$a Proszek, Paula $u Molecular Diagnostics, Royal Marsden Hospital NHS Trust, Sutton, UK
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$a Pericoli, Giulia $u Department of Onco-haematology, Cell and Gene Therapy, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy
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$a Temelso, Sara $u Division of Molecular Pathology, Institute of Cancer Research, London, UK
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$a Clarke, Matthew $u Division of Molecular Pathology, Institute of Cancer Research, London, UK
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$a Carvalho, Diana M $u Division of Molecular Pathology, Institute of Cancer Research, London, UK
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$a Mackay, Alan $u Division of Molecular Pathology, Institute of Cancer Research, London, UK
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$a Marshall, Lynley V $u Division of Clinical Studies, The Institute of Cancer Research, London, UK $u Children & Young People's Unit, Royal Marsden Hospital NHS Trust, Sutton, UK
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$a Carceller, Fernando $u Division of Clinical Studies, The Institute of Cancer Research, London, UK $u Children & Young People's Unit, Royal Marsden Hospital NHS Trust, Sutton, UK
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$a Hargrave, Darren $u Department of Haematology and Oncology, UCL Great Ormond Street Institute for Child Health, London, UK
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$a Lannering, Birgitta $u Department of Pediatrics, Institute of Clinical Sciences, Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden
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$a Pavelka, Zdenek $u Department of Pediatric Oncology, University Hospital Brno - Children's Hospital, Brno, Czechia
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$a Bailey, Simon $u Department of Paediatric Oncology, Great North Children's Hospital, Newcastle University Center for Cancer, Newcastle upon Tyne, UK
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$a Entz-Werle, Natacha $u Pediatric Onco-Hematology Department, University Hospital of Strasbourg, Strasbourg, France $u UMR CNRS 7021, Laboratory Bioimaging and Pathologies, Tumoral Signaling and Therapeutic Targets team, Faculty of Pharmacy, Illkirch, France
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$a Grill, Jacques $u Pediatric and Adolescent Oncology and INSERM Unit U981, Team Genomics and Oncogenesis of Pediatric Brain Tumors, Gustave Roussy and Paris Saclay University, Villejuif, France
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$a Vassal, Gilles $u Pediatric and Adolescent Oncology and INSERM Unit U981, Team Genomics and Oncogenesis of Pediatric Brain Tumors, Gustave Roussy and Paris Saclay University, Villejuif, France
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$a Rodriguez, Daniel $u Medical Physics and Clinical Engineering, Nottingham University Hospital Trust Nottingham University Hospital Trust, Nottingham, UK
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$a Morgan, Paul S $u Medical Physics and Clinical Engineering, Nottingham University Hospital Trust Nottingham University Hospital Trust, Nottingham, UK
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$a Jaspan, Tim $u Department of Radiology, Nottingham University Hospital Trust, Nottingham University Hospital Trust, Nottingham, UK
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$a Mastronuzzi, Angela $u Department of Onco-haematology, Cell and Gene Therapy, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy
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$a Vinci, Mara $u Department of Onco-haematology, Cell and Gene Therapy, Bambino Gesù Children's Hospital-IRCCS, Rome, Italy
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$a Hubank, Michael $u Molecular Diagnostics, Royal Marsden Hospital NHS Trust, Sutton, UK
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$a Jones, Chris $u Division of Molecular Pathology, Institute of Cancer Research, London, UK
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