Table 5.
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.