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

Authors

Erin R. Bonner, Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.
Robin Harrington, Molecular Characterization Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Augustine Eze, Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.
Miriam Bornhorst, Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.
Cassie N. Kline, Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Heather Gordish-Dressman, Department of Biostatistics, Children's National Hospital, Washington, DC, USA.
Adam Dawood, Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA.
Biswajit Das, Molecular Characterization Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Li Chen, Molecular Characterization Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Rini Pauly, Molecular Characterization Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
P Mickey Williams, Molecular Characterization Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Chris Karlovich, Molecular Characterization Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
Amanda Peach, Molecular Characterization Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
D'andra Howell, Molecular Characterization Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, USA.
James Doroshow, Division of Cancer Treatment and Diagnosis, Developmental Therapeutics Clinic/Early Clinical Trials Development Program, National Cancer Institute, Bethesda, MD, USA.
Lindsay Kilburn, Brain Tumor Institute, Children's National Hospital, Washington, DC, USA.
Roger J. Packer, Brain Tumor Institute, Children's National Hospital, Washington, DC, USA.
Sabine Mueller, Department of Neurology, Neurosurgery and Pediatrics, University of California San Francisco, San Francisco, CA, USA.
Javad Nazarian, Center for Genetic Medicine Research, Children's National Hospital, Washington, DC, USA. jnazarian@childrensnational.org.

Document Type

Journal Article

Publication Date

9-6-2022

Journal

NPJ precision oncology

Volume

6

Issue

1

DOI

10.1038/s41698-022-00306-3

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.

APA Citation

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.
https://hsrc.himmelfarb.gwu.edu/gwhpubs/1662

Department

Genomics and Precision Medicine