Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors
NPJ precision oncology
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.
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; and Nazarian, Javad, "Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors" (2022). GW Authored Works. Paper 1662.
Genomics and Precision Medicine