Table 2.
Summary of studies using circulating free DNA-based analysis for GBM.
| Author, Year | Biofluid | Methodology of cfDNA analysis | Genetic cargo evaluated | Diagnostic sensitivity | Potential role |
|---|---|---|---|---|---|
| Balana, 2003 | Plasma | Methylation Specific PCR assay | MGMT methylation status | 81% | Prognosis; Treatment selection |
| Liu, 2010* | CSF, serum | Methylated DNA immunoprecipitation RT-PCR analysis | MGMT, p16INK4a, TIMP3, THBS1 promoter hypermethylation | CSF, 50% Serum 50% | prognosis |
| Lavon, 2010* | Serum | Methylation Specific PCR assay | MGMT promoter methylation status | 51% | Diagnosis |
| Boisselier. 2012* | Plasma | DNA amplification by COLD PCR and further characterization by digital PCR | IDH1 mutation | 60% | Diagnosis |
| Salkeni, 2013 | Plasma | Long range PCR amplification | EGFRvIII deletion variant | 23% | Monitoring |
| Majchrzak-Celińska, 2013* | Serum | Methylation Specific PCR assay | MGMT, RASSF1A, p15INK4B, p14ARF promoter methylation | 81% | Diagnosis |
| Bettegowda 2014* | Plasma | Droplet digital PCR | TP53, EGFR, PTEN | <10% | Diagnosis |
| Wang, 2015* | Serum CSF | Methylation Specific PCR assay | MGMT promotor methylation | Serum, 21% CSF, 43% | Prognosis |
| De Mattos-Arruda, 2015* | CSF, Plasma | Targeted capture massively parallel sequencing | IDH1, TP53, PTEN, EGFR, FGFR2, ERBB2 mutations | - | Monitoring |
| Schwaederle, 2016* | Plasma | Next generation sequencing | TP53, NOTCH1 | 27% | Molecular profiling, Prognosis |
| Juratli, 2018* | CSF, Plasma | Nested PCR | TERT promoter mutations | CSF, 92% Plasma, 8% | Diagnosis |
| Piccioni. 2019* | Plasma | Guardant360® cfDNA digital next generation sequencing assay | TP53, NF1, MET, APC, PDGFRA mutations MET, EGFR, ERBB2 amplifications | 55% | Molecular profiling, treatment selection |
| Miller, 2019* | CSF | Next generation sequencing | IDH1, IDH2, TP53 mutations; CDKN2A, CDKN2B deletions; EGFR amplification | 49% (posttherapy) | Prognosis, Monitoring |
| Mouliere, 2019* | CSF, Plasma Urine | Tumor-guided capture sequencing | Matched clonal and private mutations | CSF, 50% Plasma, 50% Urine, 13% | Diagnosis |
| Cordova, 2019 | Plasma | Droplet digital PCR | TERT promoter mutations | 46% | Monitoring |
Abbreviations.APC, adenomatous polyposis coli; CDKN2A, Cyclin Dependent Kinase Inhibitor 2A, CDKN2B, Cyclin Dependent Kinase Inhibitor 2B; CfDNA, circulating free DNA; CSF, cerebrospinal fluid; EGFR, epidermal growth factor receptor; ERBB2, Erb-B2 Receptor Tyrosine Kinase 2; FGFR2, Fibroblast growth factor receptor 2; IDH, isocitrate dehydrogenase; MGMT, O(6)-Methylguanine-DNA methyltransferase; NF1, neurofibromatosis type 1; PDGFRA, platelet-derived growth factor receptor alpha; PTEN, Phosphatase and tensin homolog; RASSF1A, Ras association domain family 1 isoform A; RT-PCR, real time polymerase chain reaction; TERT, Telomerase reverse transcriptase; THBS1, Thrombospondin 1; TIMP3, TIMP Metallopeptidase Inhibitor 3.
These described cases in this series are not limited to GBM.