Table 1.
Published and potential liquid biopsy biomarkers.
| Biomarker | Source | Method | Literature | |
|---|---|---|---|---|
| Ependymoma | ||||
| Genomic | DNA methylation, gene fusions (RELA-, YAP), CNA (1q, 5p, CDKN2A) | blood/CSF | NGS, ddPCR, methylation array | |
| Glioma | ||||
| Genomic | DNA methylation, Mutations (e.g., BRAF, H3F3A, HIST3B), CNAs (e.g., CDKN2A), Fusions (e.g., NTRK) | blood/CSF | NGS, ddPCR, methylation array | [34,35,37,83] |
| miRNA | miR-21, miR-15b, miR-23a, miR-146b | blood/CSF | [30,84] | |
| Proteomics | bFGF, TIMP3 | Urine | ELISA | [8] |
| Medulloblastoma | ||||
| Genomic | DNA methylation, somatic mutations (CNNB1, TERT promoter, PTCH1 and others), CNA (monosomy 6, Gli2, MYCN, MYC) | blood/CSF | NGS, ddPCR, methylation array | |
| lipidomics | lipid profiles in CSF | CSF | lipidomics | [85] |
| protein | PDG2S, IGFBP3 | CSF | ELISA | [86,87] |
| miRNA | miRNA profiles | blood/CSF | NGS | |
| Rare tumors | ||||
| ATRT | ||||
| Genomic | DNA methylation, Mutations (SMARCB1), DNA methylation | NGS, ddPCR, methylation array | ||
| Protein | Osteopontin | blood/CSF | ELISA | [88] |
| ETMR | DNA methylation, CNA (C19MC), Mutations (DICER1), miRNA | NGS, ddPCR, methylation array | ||
| HGNET-BCOR | BCOR internal tandem duplication | NGS |
CSF, cerebrospinal fluid; NGS, next-generation sequencing; ddPCR, digital-droplet polymerase chain reaction (PCR); ELISA, enzyme-linked immunosorbent assay.