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

被引：0

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 Nazarian

机构：

[1] Children’s National Hospital,Center for Genetic Medicine Research

[2] The George Washington University School of Medicine and Health Sciences,Institute for Biomedical Sciences

[3] Frederick National Laboratory for Cancer Research,Molecular Characterization Laboratory

[4] University of Pennsylvania Perelman School of Medicine,Division of Oncology, Department of Pediatrics, Children’s Hospital of Philadelphia

[5] Children’s National Hospital,Department of Biostatistics

[6] National Cancer Institute,Division of Cancer Treatment and Diagnosis, Developmental Therapeutics Clinic/Early Clinical Trials Development Program

[7] Children’s National Hospital,Brain Tumor Institute

[8] University of California San Francisco,Department of Neurology, Neurosurgery and Pediatrics

[9] University Children’s Hospital Zürich,Department of Pediatrics

来源：

npj Precision Oncology | / 6卷

关键词：

D O I：

暂无

中图分类号：

学科分类号：

摘要：

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.

引用

共 50 条

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