Table 1.
Summary of the individual samples investigated by one or more ddPCR-based assays and appropriate other methods for validation
| Number of cases | TERTp mutation | IDH mutation | BRAF mutation | H3-3A mutation | PRKCA mutation | 1p/19q co-deletion* | deletion on chr10* | gain on chr7 | EGFR amplification | EGFRvIII deletion | BRAF duplication | CDKN2A deletion | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Astrocytoma, IDH-mutant, CNS WHO grade 2 | 12 | 7 (1/6) | 6 (6/0) | 1 (0/1) | – | – | – | 1 (1/0/0) | – | – | – | – | 6 (1/5) |
| Astrocytoma, IDH-mutant, CNS WHO grade 3 | 7 | 3 (0/3) | 2 (2/0) | – | – | – | 1 (0/1/0) | – | – | – | – | – |
3 (1/2) |
| Astrocytoma, IDH-mutant, CNS WHO grade 4 | 11 | 3 (0/3) | 5 (5/0) | – | 1 (0/1) | – | – | 1 (1/0/0) | 1 (0/1) | – | – | – | 5 (4/1) |
| Glioblastoma, IDH-wildtype, CNS WHO grade 4 | 122 | 36 (36/0) | 9 (0/9) | 12 (2/10) | 1 (0/1) | 5 (0/5) | 4 (0/4/0) | 20 (16/0/4) | 15/ (13/2) | 34 (25/9) | 30 (8/22) | – | 42 (33/9) |
| Chordoid glioma, CNS WHO grade 2 | 3 | – | – | – | – | 3 (2/1) | – | – | – | – | – | – | – |
| Diffuse hemispheric glioma, H3 G34-mutant, CNS WHO grade 4 | 5 | – | – | – | 5 (5/0) | – | – | – | – | – | – | – | – |
| Diffuse midline glioma, H3 K27-altered, CNS WHO grade 4 | 9 | – | – | – | 8 (8/0) | – | – | – | 2 (0/2) | – | – | – | – |
| Oligodendroglioma, IDH-mutant, and 1p/19q-codeleted, CNS WHO grade 2 | 18 | 10 (10/0) | 13 (13/0) | – | – | – | 7 (6/0/1) | – | – | 4 (0/4) | – | – | 1 (0/1) |
| Oligodendroglioma, IDH-mutant, and 1p/19q-codeleted, CNS WHO grade 3 | 29 | 13 (13/0) | 22 (22/0) | – | 1 (0/1) | – | 14 (14/0/0) | – | – | 6 (0/6) | – | – | 5 (2/3) |
| Pilocytic astrocytoma, CNS WHO grade 1 | 25 | – | – | 5 (1/4) | – | – | 1 (0/1/0) | – | 1 (0/1) | – | – | 20 (14/6) | 4 (0/4) |
| Others | 7 | 1 (1/0) | 1 (1/0) | 4 (4/0) | – | – | – | – | 1 (0/1) | – | – | – | – |
| Blood samples | 14 | – | – | – | – | – | 10 (0/9/1) | 13 (0/12/1)) | 10 (0/10) | – | – | – | – |
| Total number of investigated samples | 262 | 73 (61/12) | 58 (49/9) | 22 (7/15) | 16 (13/3) | 8 (2/6) | 37 (20/15/2) | 35 (18/12/5) | 30 (13/17) | 44 (25/19) | 30 (8/22) | 20 (14/6) | 66 (41/25) |
The 248 tumor samples are stratified according to glioma type. The figures in the individual columns illustrate the numbers of samples from each tumor type analysed for the respective molecular biomarker. Note that not all cases were investigated for all biomarkers by ddPCR but that cases were selected for the establishment and validation of the individual assays. Numbers in brackets: first number, cases with alteration; second number, cases without alteration; *third number, cases with non-informative SNPs. –, not analysed