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Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study
Open accessAbstract
The potential of circulating tumor DNA (ctDNA) analysis to serve as a real-time "liquid biopsy" for children with central nervous system (CNS) and non-CNS solid tumors remains to be fully elucidated. We conducted a study to investigate the feasibility and potential clinical utility of ctDNA sequencing in pediatric patients enrolled on an institutional clinical genomics trial. A total of 240 patients had tumor DNA profiling performed during the study period. Plasma samples were collected at study enrollment from 217 patients and then longitudinally from a subset of patients. Successful cell-free DNA extraction and quantification occurred in 216 of 217 (99.5%) of these initial samples. Twenty-four patients were identified whose tumors harbored 30 unique variants that were potentially detectable on a commercially-available ctDNA panel. Twenty of these 30 mutations (67%) were successfully detected by next-generation sequencing in the ctDNA from at least one plasma sample. The rate of ctDNA mutation detection was higher in patients with non-CNS solid tumors (7/9, 78%) compared to those with CNS tumors (9/15, 60%). A higher ctDNA mutation detection rate was also observed in patients with metastatic disease (9/10, 90%) compared to non-metastatic disease (7/14, 50%), although tumor-specific variants were detected in a few patients in the absence of radiographic evidence of disease. This study illustrates the feasibility of incorporating longitudinal ctDNA analysis into the management of relapsed or refractory patients with childhood CNS or non-CNS solid tumors.
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Previous studies have found that children with solid tumors often have clinically relevant variants detected by ctDNA assays designed to capture common pediatric tumor copy number alterations and translocations.
“Previous studies have found that children with solid tumors have frequently detected variants of clinical relevance via ctDNA assays designed to capture common pediatric tumor CNAs and translocations.”
From Clinical Liquid Biopsy Testing for Detection of Actionable Genomic Alterations in Children and Young Adults With Advanced Solid Tumors on the GAIN Study (2026) · cites this paper as [24]
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Roberts, H. J., Comeau, H., Klega, K., DuBois, S. G., Lazo de la Vega, L., Ceca, E., Mullen, E. A., Smith, G. A., Tukachinsky, H., Huang, R. S. P., et al. (2026) · JCO Precision Oncology · doi:10.1200/po-25-01125
Metadata
- Authors
- Mangum, R., Reuther, J., Sen Baksi, K., Gandhi, I., Zabriskie, R. C., Recinos, A., Raesz-Martinez, R., Lin, F. Y., Potter, S. L., Sher, A. C., Kralik, S. F., Mohila, C. A., Chintagumpala, M. M., Muzny, D., Hu, J., Gibbs, R. A., Fisher, K. E., Bernini, J. C., Gill, J., Griffin, T. C., Tomlinson, G. E., Vallance, K. L., Plon, S. E., Roy, A., & Parsons, D. W.
- Affiliations
- Phoenix Children's Hospital (US)
- Baylor College of Medicine (US)
- Texas Children’s Cancer Center, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA
- Nationwide Children's Hospital (US)
- Texas Children's Hospital (US)
- The University of Texas MD Anderson Cancer Center (US)
- The University of Texas at San Antonio Health Science Center (US)
- Cook Children's Medical Center (US)
- Corresponding author
- Mangum, Ross
- ORCID
- Mangum, Ross
- Gandhi, Ilavarasi
- Lin, Frank Y.
- Potter, Samara L.
- Sher, Andrew C.
- Kralik, Stephen F.
- Mohila, Carrie A.
- Chintagumpala, Murali M.
- Muzny, Donna
- Gibbs, Richard A.
- Fisher, Kevin E.
- Bernini, Juan Carlos
- Gill, Jonathan
- Griffin, Timothy C.
- Tomlinson, Gail E.
- Vallance, Kelly L.
- Plon, Sharon E.
- Roy, Angshumoy
- Parsons, D. Williams
- Venue
- Pediatric Hematology and Oncology
- Publisher
- Informa UK Limited
- Published
- 2023-06-27
- Volume
- 40
- Issue
- 8
- Pages
- 719-738
- ISSN
- 0888-0018 (ISSN-L)
- 1521-0669
- PMC
- PMC10592361
- OpenAlex
- W4382181247
- Cited by
- 8
- References
- 53
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 2
- FWCI
- 1.01
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Pediatric Hematology and Oncology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Digital Commons-TMC (Texas Medical Center) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Figshare (cc-by)
- Funders
- Chance for Hope Foundation
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Oncology › Glioma Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- circulating tumor DNA, liquid biopsy, pediatric solid tumors, pediatric brain tumors, central nervous system tumors, plasma cell-free DNA, longitudinal ctDNA monitoring, metastatic disease, relapsed/refractory cancer
- MeSH terms
- Circulating Tumor DNA, Brain Neoplasms, Child, Feasibility Studies, Humans, Mutation, Biomarkers, Tumor, High-Throughput Nucleotide Sequencing
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