Table 1.
Summary of studies demonstrating clinical utility of ctDNA-CSF in CNS disease.
Study | Tumor types | Number of samples | Assay method | Analyte | Mutation detection rate |
---|---|---|---|---|---|
De Mattos-Arruda et al. PMID: 26554728 | Breast, lung, GBM | n = 12 | Targeted sequencing | CSF | 60% |
Plasma | 55% | ||||
Pentsova et al. PMID: 27161972 | Advanced solid tumors and primary CNS tumors | n = 32 | Targeted sequencing | CSF | 60–75% |
Li et al. PMID: 29346604 | NSCLC | n = 26 | Targeted sequencing | CSF | 100% |
Plasma | 73% | ||||
Bettegowda et al. PMID: 24553385 | Advanced solid tumors and primary CNS tumors | n = 640 | Targeted sequencing | Plasma | >75% for most solid tumors |
Zill et al. PMID: 29776953 | Advanced solid tumors and primary CNS tumors | n = 21,807 | Targeted sequencing | Plasma | 51–93% |
Wang et al. PMID: 26195750 | Primary CNS tumors | n = 35 | Targeted sequencing | CSF | 74% |
Miller et al. PMID: 30675060 | Primary CNS tumors | n = 85 | Targeted sequencing | CSF | 50% |
Plasma | 0% | ||||
von Baumgarten et al. PMID: 31903155 | Advanced solid tumors | n=27 | Targeted sequencing | CSF | 74% |
Martinez-Ricarte et al. PMID: 29615461 | Primary CNS tumors | n = 20 | Targeted sequencing | CSF | 79% |
Momtaz et al. PMID: 27863426 | Advanced melanoma | n = 11 | Digital droplet PCR (ddPCR) | CSF | 55% |
Schwaederle et al. PMID: 26848768 | Advanced solid tumors and GBM | n = 171 | Targeted Sequencing | Plasma | 65% |
Piccioni et al. PMID: 30855176 | Primary CNS tumors | n = 419 | Targeted sequencing | Plasma | 50% |
Mouliere et al. PMID: 30401727 | Primary CNS tumors | n = 13 | Shallow whole genome sequencing | CSF | 39% |
Plasma | |||||
Pan et al. PMID: 25605683 | Advanced solid tumors and primary CNS tumors | n = 7 | ddPCR | CSF | 86% |
Targeted sequencing | Plasma | ||||
Bobillo et al. PMID: 32079701 | B-cell lymphoma | n = 19 | ddPCR | CSF | 32% |
Targeted sequencing | Plasma | ||||
Huang et al. PMID: 31161597 | Lung adenocarcinoma | n = 35 | ddPCR | CSF | 50–75% |
Plasma |