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. 2024 Dec 18;45:6. doi: 10.1007/s10571-024-01515-z

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