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- Title
Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.
- Authors
Bonner, Erin R.; Harrington, Robin; Eze, Augustine; Bornhorst, Miriam; Kline, Cassie N.; Gordish-Dressman, Heather; Dawood, Adam; Das, Biswajit; Chen, Li; Pauly, Rini; Williams, P. Mickey; Karlovich, Chris; Peach, Amanda; Howell, D'andra; Doroshow, James; Kilburn, Lindsay; Packer, Roger J.; Mueller, Sabine; Nazarian, Javad
- Abstract
Molecular profiling of childhood CNS tumors is critical for diagnosis and clinical management, yet tissue access is restricted due to the sensitive tumor location. We developed a targeted deep sequencing platform to detect tumor driver mutations, copy number variations, and heterogeneity in the liquid biome. Here, we present the sensitivity, specificity, and clinical relevance of our minimally invasive platform for tumor mutation profiling in children diagnosed with CNS cancer.
- Subjects
CENTRAL nervous system tumors; CIRCULATING tumor DNA; DNA sequencing
- Publication
NPJ Precision Oncology, 2022, Vol 6, Issue 1, p1
- ISSN
2397-768X
- Publication type
Article
- DOI
10.1038/s41698-022-00306-3