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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Brief Communication
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
Descripción
Sumario: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.

Ejemplares similares