Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study.
Central Nervous System Tumors
cell-free DNA
circulating tumor DNA
liquid biopsy
precision oncology
Journal
Pediatric hematology and oncology
ISSN: 1521-0669
Titre abrégé: Pediatr Hematol Oncol
Pays: England
ID NLM: 8700164
Informations de publication
Date de publication:
2023
2023
Historique:
pmc-release:
27
06
2024
medline:
4
10
2023
pubmed:
27
6
2023
entrez:
27
6
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 37366551
doi: 10.1080/08880018.2023.2228837
pmc: PMC10592361
mid: NIHMS1917909
doi:
Substances chimiques
Circulating Tumor DNA
0
Biomarkers, Tumor
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
719-738Subventions
Organisme : NHGRI NIH HHS
ID : U01 HG006485
Pays : United States
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