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CNS Oncol. 2019 Jun;8(2):CNS34. doi: 10.2217/cns-2018-0015. Epub 2019 Mar 11.

Analysis of cell-free circulating tumor DNA in 419 patients with glioblastoma and other primary brain tumors.

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Department of Neurosciences, University of California San Diego Moores Cancer Center, San Diego, CA, USA.
Department of Translational Neurosciences and Neurotherapeutics, Pacific Neuroscience Institute, John Wayne Cancer Institute at Providence Saint John's Health Center, Santa Monica, CA, USA.
Department of Medical Affairs, Guardant Health, Redwood City, CA, USA.


Aim: Genomically matched trials in primary brain tumors (PBTs) require recent tumor sequencing. We evaluated whether circulating tumor DNA (ctDNA) could facilitate genomic interrogation in these patients. Methods: Data from 419 PBT patients tested clinically with a ctDNA NGS panel at a CLIA-certified laboratory were analyzed. Results: A total of 211 patients (50%) had ≥1 somatic alteration detected. Detection was highest in meningioma (59%) and gliobastoma (55%). Single nucleotide variants were detected in 61 genes, with amplifications detected in ERBB2, MET, EGFR and others. Conclusion: Contrary to previous studies with very low yields, we found half of PBT patients had detectable ctDNA with genomically targetable off-label or clinical trial options for almost 50%. For those PBT patients with detectable ctDNA, plasma cfDNA genomic analysis is a clinically viable option for identifying genomically driven therapy options.


Guardant360; cell-free DNA; ctDNA; genomic profiling; glioblastoma; liquid biopsy; personalized medicine; primary brain tumors

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