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. 2022 Jan 6;24(6):855–871. doi: 10.1093/neuonc/noac004

Table 5.

Liquid Biopsy in Pediatric Gliomas: Studies with Different Methods

Reference Tumor
type
Liquid biopsy source Technique What was measured Molecular alterations examined Suggested clinical application
Huang et al. 2017 6 DMG CSF Sanger sequencing
or nested PCR
ct-DNA H3F3A and HIST1H3B
K27M mutation
Diagnosis
Stratification
Monitoring
Panditharatna et al. 2018 48 DMG CSF
Blood
ddPCR ct-DNA H3K27M Monitoring
treatment
Stallard et al. 2018 4 DIPG CSF ddPCR ct-DNA H3F3A H3K27M Monitoring
Garcia-Romero et al. 2019 7 DIPG
4 thalamic glioma
8 gliomas I/ II, III/ IV
CSF
Blood
ddPCR cf-DNA, EV-derived DNA BRAF V600E Targeted treatment selection
Mueller et al. 2019 13 DIPG Blood ddPCR ct-DNA H3F3A, HIST1H3B Monitoring
treatment
Pan et al. 2019 23 DIPG CSF (matched blood and tumor DNA) Targeted sequencing ct-DNA HF3A, TP53ATRX, PDGRA, FAT1, HIST1H3B, PPMID, IDH1, NF1, PIK3CA, ACVR1 Diagnosis

DIPG: diffuse intrinsic pediatric gliomas; DMG: diffuse midline glioma.