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Published in: European Journal of Pediatrics 2/2020

Open Access 01-02-2020 | Solid Tumor | Review

The pitfalls and promise of liquid biopsies for diagnosing and treating solid tumors in children: a review

Authors: Ruben Van Paemel, Roos Vlug, Katleen De Preter, Nadine Van Roy, Frank Speleman, Leen Willems, Tim Lammens, Geneviève Laureys, Gudrun Schleiermacher, Godelieve A. M. Tytgat, Kathy Astrahantseff, Hedwig Deubzer, Bram De Wilde

Published in: European Journal of Pediatrics | Issue 2/2020

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Abstract

Cell-free DNA profiling using patient blood is emerging as a non-invasive complementary technique for cancer genomic characterization. Since these liquid biopsies will soon be integrated into clinical trial protocols for pediatric cancer treatment, clinicians should be informed about potential applications and advantages but also weaknesses and potential pitfalls. Small retrospective studies comparing genetic alterations detected in liquid biopsies with tumor biopsies for pediatric solid tumor types are encouraging. Molecular detection of tumor markers in cell-free DNA could be used for earlier therapy response monitoring and residual disease detection as well as enabling detection of pathognomonic and therapeutically relevant genomic alterations.
Conclusion: Existing analyses of liquid biopsies from children with solid tumors increasingly suggest a potential relevance for molecular diagnostics, prognostic assessment, and therapeutic decision-making. Gaps remain in the types of tumors studied and value of detection methods applied. Here we review the current stand of liquid biopsy studies for pediatric solid tumors with a dedicated focus on cell-free DNA analysis. There is legitimate hope that integrating fully validated liquid biopsy–based innovations into the standard of care will advance patient monitoring and personalized treatment of children battling solid cancers.
What is Known:
Liquid biopsies are finding their way into routine oncological screening, diagnosis, and disease monitoring in adult cancer types fast.
The most widely adopted source for liquid biopsies is blood although other easily accessible body fluids, such as saliva, pleural effusions, urine, or cerebrospinal fluid (CSF) can also serve as sources for liquid biopsies
What is New:
Retrospective proof-of-concept studies in small cohorts illustrate that liquid biopsies in pediatric solid tumors yield tremendous potential to be used in diagnostics, for therapy response monitoring and in residual disease detection.
Liquid biopsy diagnostics could tackle some long-standing issues in the pediatric oncology field; they can enable accurate genetic diagnostics in previously unbiopsied tumor types like renal tumors or brain stem tumors leading to better treatment strategies
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Metadata
Title
The pitfalls and promise of liquid biopsies for diagnosing and treating solid tumors in children: a review
Authors
Ruben Van Paemel
Roos Vlug
Katleen De Preter
Nadine Van Roy
Frank Speleman
Leen Willems
Tim Lammens
Geneviève Laureys
Gudrun Schleiermacher
Godelieve A. M. Tytgat
Kathy Astrahantseff
Hedwig Deubzer
Bram De Wilde
Publication date
01-02-2020
Publisher
Springer Berlin Heidelberg
Published in
European Journal of Pediatrics / Issue 2/2020
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-019-03545-y

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