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Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors
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 liqu...
| Autores principales: | , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9448784/ https://www.ncbi.nlm.nih.gov/pubmed/36068285 http://dx.doi.org/10.1038/s41698-022-00306-3 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Bonner, Erin R. |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-9448784 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-94487842022-09-08 Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors 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 NPJ Precis Oncol Brief Communication 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. Nature Publishing Group UK 2022-09-06 /pmc/articles/PMC9448784/ /pubmed/36068285 http://dx.doi.org/10.1038/s41698-022-00306-3 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Brief Communication 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 Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors |
| title | Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors |
| title_full | Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors |
| title_fullStr | Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors |
| title_full_unstemmed | Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors |
| title_short | Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors |
| title_sort | circulating tumor dna sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors |
| topic | Brief Communication |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9448784/ https://www.ncbi.nlm.nih.gov/pubmed/36068285 http://dx.doi.org/10.1038/s41698-022-00306-3 |
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