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

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

doi:10.1038/s41698-022-00306-3

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

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^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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.

Original language	English (US)
Article number	63
Journal	npj Precision Oncology
Volume	6
Issue number	1
DOIs	https://doi.org/10.1038/s41698-022-00306-3
State	Published - Dec 2022

Funding

The authors would like to acknowledge the generosity of all patients and their families. This work was supported by funding from the Isabella Kerr Molina Foundation, the National Cancer Institute and National Institutes of Health under contract HHSN261200800001E, Smashing Walnuts Foundation (Middleburg, VA), the V Foundation (Atlanta, GA), The Gabriella Miller Kids First Data Resource Center, Clinical and Translational Science Institute at Children’s National (5UL1TR001876-03), Matthew Larson Foundation (Franklin Lake, NJ), The Lilabean Foundation for Pediatric Brain Cancer Research (Silver Spring, MD), Kortney Rose Foundation (Oceanport, NJ), The Swifty Foundation (Woodridge, IL), Michael Mosier Defeat DIPG Foundation (Bethesda, MD), The Swiss National Science Fund (SNSF), Pediatric Brain Tumor Foundation (PBTF) (Asheville, NC), Pediatric Cancer Research Foundation (Irvine, CA), Kisses 4 Kayla Foundation, The Brad Kaminsky Foundation, and the We Love You Connie Foundation (Toronto, CA). This work is included in the forthcoming Doctoral Dissertation entitled “Characterizing the Evolving Genomic Landscape of Histone and Partner Gene Mutations in Pediatric High-Grade Gliomas” by E.R.B. of The George Washington University. The authors would like to acknowledge the generosity of all patients and their families. This work was supported by funding from the Isabella Kerr Molina Foundation, the National Cancer Institute and National Institutes of Health under contract HHSN261200800001E, Smashing Walnuts Foundation (Middleburg, VA), the V Foundation (Atlanta, GA), The Gabriella Miller Kids First Data Resource Center, Clinical and Translational Science Institute at Children’s National (5UL1TR001876-03), Matthew Larson Foundation (Franklin Lake, NJ), The Lilabean Foundation for Pediatric Brain Cancer Research (Silver Spring, MD), Kortney Rose Foundation (Oceanport, NJ), The Swifty Foundation (Woodridge, IL), Michael Mosier Defeat DIPG Foundation (Bethesda, MD), The Swiss National Science Fund (SNSF), Pediatric Brain Tumor Foundation (PBTF) (Asheville, NC), Pediatric Cancer Research Foundation (Irvine, CA), Kisses 4 Kayla Foundation, The Brad Kaminsky Foundation, and the We Love You Connie Foundation (Toronto, CA). This work is included in the forthcoming Doctoral Dissertation entitled “Characterizing the Evolving Genomic Landscape of Histone and Partner Gene Mutations in Pediatric High-Grade Gliomas” by E.R.B. of The George Washington University.

ASJC Scopus subject areas

Oncology
Cancer Research

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1038/s41698-022-00306-3

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Bonner, E. R., Harrington, R., Eze, A., Bornhorst, M., Kline, C. N., Gordish-Dressman, H., Dawood, A., Das, B., Chen, L., Pauly, R., Williams, P. M., Karlovich, C., Peach, A., Howell, D., Doroshow, J., Kilburn, L., Packer, R. J., Mueller, S., & Nazarian, J. (2022). Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors. npj Precision Oncology, 6(1), Article 63. https://doi.org/10.1038/s41698-022-00306-3

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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.",

author = "Bonner, {Erin R.} and Robin Harrington and Augustine Eze and Miriam Bornhorst and Kline, {Cassie N.} and Heather Gordish-Dressman and Adam Dawood and Biswajit Das and Li Chen and Rini Pauly and Williams, {P. Mickey} and Chris Karlovich and Amanda Peach and D{\textquoteright}andra Howell and James Doroshow and Lindsay Kilburn and Packer, {Roger J.} and Sabine Mueller and Javad Nazarian",

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Bonner, ER, Harrington, R, Eze, A, Bornhorst, M, Kline, CN, Gordish-Dressman, H, Dawood, A, Das, B, Chen, L, Pauly, R, Williams, PM, Karlovich, C, Peach, A, Howell, D, Doroshow, J, Kilburn, L, Packer, RJ, Mueller, S & Nazarian, J 2022, 'Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors', npj Precision Oncology, vol. 6, no. 1, 63. https://doi.org/10.1038/s41698-022-00306-3

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T1 - Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors

AU - Bonner, Erin R.

AU - Harrington, Robin

AU - Eze, Augustine

AU - Bornhorst, Miriam

AU - Kline, Cassie N.

AU - Gordish-Dressman, Heather

AU - Dawood, Adam

AU - Das, Biswajit

AU - Chen, Li

AU - Pauly, Rini

AU - Williams, P. Mickey

AU - Karlovich, Chris

AU - Peach, Amanda

AU - Howell, D’andra

AU - Doroshow, James

AU - Kilburn, Lindsay

AU - Packer, Roger J.

AU - Mueller, Sabine

AU - Nazarian, Javad

PY - 2022/12

Y1 - 2022/12

N2 - 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.

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

Abstract

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ASJC Scopus subject areas

UN SDGs

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