Table 1.
Selected studies using ddPCR and NGS to detect ctDNA in brain gliomas
| Tumor | Sample type | Patients(n) | Detection methods | Detection index | References |
|---|---|---|---|---|---|
| Gliomas | CSF, urine, and plasma | 49 | ddPCR | IDH1 | (Tuna et al. 2022) |
| Pediatric high-grade and diffuse midline glioma, H3K27-altered | Plasma, serum, CSF, cystic fluid, and tumor samples | 32 | ddPCR | H3F3A_K27M; BRAF-V600E | (Izquierdo et al. 2021) |
| Gliomas | CSF | 13 | sWGS | DNA fragmentation and copy number alterations | (Mouliere et al. 2018b) |
| GBM and other primary brain tumors | Blood samples | 419 | NGS | Targeted NGS sequencing | (Piccioni et al. 2019) |
| Brainstem gliomas | CSF, plasma, and tumor samples | 57 | NGS | 68 genes | (Pan et al. 2019) |
| Pediatric solid tumors | Blood samples | 39 | NGS and sWGS | 67 genes | (Stankunaite et al. 2022) |
| Gliomas | CSF and tumor samples | 26 | NGS | 520 genes | (Guo et al. 2022) |
| GBM | CSF and tumor samples | 10 | WES | ctDNA mutations | (Duan et al. 2020) |
| Gliomas | TISF and tissue samples | 10 | NGS | 68 genes | (Sheng et al. 2021) |
| Gliomas | TISF and tumor samples | 107 | NGS | 68 genes | (Sheng et al. 2023) |
| Diffuse midline glioma, H3 K27-altered | CSF, plasma, tumor samples, and human primary pediatric glioma cells | CSF (n = 6), plasma (n = 4) | ddPCR | H3F3A c.83A > T | (Li et al. 2021) |
| Pan-cancers | Blood and tumor samples | 200 | sWGS | Fragment sizes | (Mouliere et al. 2018a) |
ddPCR Droplet digital PCR; NGS next-generation sequencing; sWGS shallow whole-genome sequencing; WES whole-exome sequencing; ctDNA circulating tumor DNA; GBM glioblastoma; CSF cerebrospinal fluid