Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors

循环肿瘤 DNA 测序为儿童中枢神经系统肿瘤提供全面的突变分析

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作者:Erin R Bonner, Robin Harrington, Augustine Eze, Miriam Bornhorst, Cassie N Kline, Heather Gordish-Dressman, Adam Dawood, Biswajit Das, Li Chen, Rini Pauly, P Mickey Williams, Chris Karlovich, Amanda Peach, D'andra Howell, James Doroshow, Lindsay Kilburn, Roger J Packer, Sabine Mueller, Javad Nazaria

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.

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