Table 2.
Application of ctDNA in the auxiliary diagnosis of gliomas
| Tumor | Sample types | Sample size | Detection methods | Detection index | References |
|---|---|---|---|---|---|
| Gliomas | Plasma | 157 | ddPCR | TERT promoter mutations | (Muralidharan et al. 2021) |
| Gliomas | Plasma samples | 60 | cfMeDIP-seq | DNA methylation | (Nassiri et al. 2020) |
| Gliomas | Serum | 149 | Genome-wide DNA methylation | cfDNA-derived methylation signature | (Sabedot et al. 2021) |
| Gliomas | frozen tumors and corresponding blood samples | 80 | NGS | Circulating cell-free DNA | (Szadkowska et al. 2022) |
| Gliomas | Tumor tissues and blood sample | 21 | NGS | 1p/19q and MDM2 followed by frequencies of ERBB2, IDH1, CDKN2A, CDK4, PDGFRA, CCNE1, MET | (Liang et al. 2020) |
| Diffuse gliomas | Tumor specimens and CSF | 20 | NGS and PCR | IDH1, IDH2, TP53, TERT, ATRX, H3F3A, HIST1H3B | (Martínez-Ricarte et al. 2018) |
| Diffuse gliomas | CSF | 34 | ddPCR | IDH1 R132H, TERT promoter (C228T and C250T), and H3F3A (K27M) mutations | (Fujioka et al. 2021) |
| Gliomas | CSF | 48 | ddPCR, liquid chromatography-mass spectrometry | IDH1 p.R132H mutation and 2-hydroxyglutarate (2HG) | (Fujita et al. 2022) |
| Diffuse midline glioma, H3 K27-altered | CSF | 6 | Targeted Sanger sequencing | H3K27M mutation | (Huang et al. 2017) |
| Gliomas | Urine samples | 35 | WES | Whole exomes | (Mouliere et al. 2021) |
ddPCR droplet digital PCR; NGS next-generation sequencing; WES whole-exome sequencing; cfDNA cell-free DNA; ctDNA circulating tumor DNA; CSF cerebrospinal fluid; cfMeDIP-seq cell-free methylated DNA immunoprecipitation and sequencing