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
Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.
Institute for Biomedical Sciences, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
NPJ Precis Oncol. 2022 Sep 6;6(1):63. doi: 10.1038/s41698-022-00306-3.
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.
儿童中枢神经系统肿瘤的分子谱分析对于诊断和临床管理至关重要，但由于肿瘤位置敏感，组织获取受限。我们开发了一种靶向深度测序平台，以检测液体生物群中的肿瘤驱动突变、拷贝数变异和异质性。在此，我们展示了我们的微创平台对诊断为中枢神经系统癌症的儿童进行肿瘤突变谱分析的敏感性、特异性和临床相关性。
