Origins of testing ctDNA markers in glioblastomas
| Year | Gene | Variation | Source | Method | Tumor |
|---|---|---|---|---|---|
| 2003 [15] | MGMT | Methylation | Serum | MS-PCR | GBM |
| 2006 [33] | Plasma | MS-PCR | GBM, AA | ||
| 2010 [34] | Serum | MS-PCR | Astrocytic tumors (WHO III, IV), oligodendroglial tumors (WHO II, III) | ||
| 2013 [29] | Serum | MS-PCR | Glial tumors (II, III, IV), meningioma | ||
| 2003 [15] | p16 | Methylation | Serum | MS-PCR | GBM |
| 2006 [33] | Plasma | MS-PCR | GBM, AA, AOA | ||
| 2003 [15] | DAPK | Methylation | Serum | MS-PCR | GBM |
| 2003 [15] | RASSF1A | Methylation | Serum | MS-PCR | GBM |
| 2013 [29] | Glial tumors (II, III, IV), meningioma | ||||
| 2006 [33] | p73 | Methylation | Plasma | MS-PCR | GBM |
| 2010 [34] | PTEN | Methylation | Serum | MS-PCR | Astrocytic tumors (WHO III, IV) |
| 2014 [17] | Mutation | Plasma, serum | Digital PCR, sequencing | Glioma II, AA, GBM | |
| 2010 [34] | 10q | LOH | Serum | LOH | Astrocytic (WHO III, IV), oligodendroglial (WHO II, III) |
| 2012 [35] | IDH1 | Mutation (R132H) | Plasma | Digital PCR | Glioma (WHO grade II, III, IV) |
| 2014 [16] | Mutation | Plasma, serum | Digital PCR, sequencing | Glioma II, AA, GBM | |
| 2013 [29] | p15INK4B | Methylation | Serum | MS-PCR | Glial tumors (II, III, IV), meningioma |
| 2013 [29] | p14ARF | Methylation | Serum | MS-PCR | Glial tumors (II, III, IV), meningioma |
| 2014 [16] | TP53 | Mutation | Plasma, serum | Digital PCR, sequencing | Glioma II, AA, GBM |
| 2014 [16] | EGFR | Mutation | Plasma, serum | Digital PCR, sequencing | Glioma II, AA, GBM |
| 2014 [16] | PIK3CA | Mutation | Plasma, serum | Digital PCR, sequencing | Glioma II, AA, GBM |
| 2015 [28] | TP53, EPHB1, TERT, PIK3CG, IDH1, ANK, EGFR, PTEN, FTH1, OR51D1 | Mutation | CSF (plasma) | ddPCR, MAF | GBM |
| 2015 [27] | Genome | Mutation | CSF | TAS/WES | AA III, PA I, ependymoma, medulloblastoma IV, GBM, LGG II, diffuse astrocytoma |
| 2017 [36] | Gene panels (54, 68, 70 genes) including TP53, EGFR, MET | Mutation | Plasma | NGS | Brain tumors (not specified) |
| 2018 [23] | IDH1, IDH2, TP53, TERT, ATRX, H3F3A, HIST1H3B | Mutation | CSF | Sequencing | Diffuse gliomas |
| 2018 [25] | Genome | SCNAs and fragmentation | CSF | WGS | Glioma |
| 2018 [37] | TERT | Mutation | CSF (plasma) | PCR, sequencing | GBM |
| 2019 [38] | Genome including TP53, JAK2, NF1, EGFR, BRAF, IDH1, NRAS, GNAS, ATM | Mutation | Plasma | NGS | Astrocytic/oligodendral tumors grades I–IV, including GBM, medulloblastoma, meningioma, and ependymoma |
| 2019 [24] | P19Q, IDH1, CIC, ATRX, TP53 | Mutation | CSF | NGS | LGG, GBM |
MS-PCR: methylation-sensitive PCR; AA: anaplastic astrocytoma; AOA: anaplastic oligoastrocytoma; DAPK: death-associated protein kinase; RASSF1A: ras association domain family 1 isoform A; LOH: loss of heterozygosity; PIK3CA: phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha; PIK3CG: phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit gamma; EPHB1: ephrin type-b receptor 1; OR51D1: olfactory receptor family 51 subfamily D member 1; TERT: telomerase reverse transcriptase; ANK: amplified natural killer; FTH1: ferritin heavy chain 1; ddPCR: droplet digital PCR; MAF: mutant allelic frequency; TAS: targeted amplicon sequencing; WES: whole exome sequencing; LGG: low-grade glioma; NGS: next generation sequencing; ATRX: alpha-thalassemia/mental retardation syndrome X-linked; H3F3A: histone 3.3 gene variant A; HIST1H3B: histone 3.1 gene; SCNA: somatic copy-number alterations; WGS: whole-genome sequencing; JAK2: janus kinase 2; NF1: neurofibromatosis type 1; BRAF: v-Raf murine sarcoma viral oncogene homolog B; NRAS: neuroblastoma RAS (viral oncogene homolog of rat sarcoma virus); GNAS: G protein alpha(s); ATM: Ataxia telangiectasia mutated; 1P19Q: 1p/19q codeletion of chromosome arms; CIC: capicua (Catalan: head-and-tail), a Drosophila homologue gene for a transcription repression factor