Table 2.
Mutational Results: SNVs, CNVs and Fusions
| Our sample, n (%) | TCGA-Public DB*, n (%) | Treatments options | |
|---|---|---|---|
| SNV | n = 99 | n = 2861 | |
| SNV total | |||
| • Mutated | 38 (38) | 1403 (49) | |
| • WT | 61 (62) | 1458 (51) | |
| IDH1: | |||
| • Mutated | 20 (20) | 924 (32) | TIER IIC |
| • WT | 79 (80) | 1937 (68) | |
| IDH2 | |||
| • Mutated | 3 (3) | 45 (2) | TIER IIC |
| • WT | 96 (97) | 2816 (98) | |
| EGFR | |||
| • Mutated | 8 (8) | 341 (12) | TIER IIC |
| • WT | 91 (92) | 2520 (88) | |
| BRAF | |||
| • Mutated | 2 (2) | 71 (2) | TIER IA, TIER IIC |
| • WT | 97 (98) | 2790 (98) | |
| PIK3CA | |||
| • Mutated | 8 (8) | 236 (8) | TIER IIC |
| • WT | 91 (92) | 2625 (92) | |
| FGFR3 | |||
| • Mutated | 1 (1) | 33 (1) | TIER IIC |
| • WT | 98 (99) | 2828 (99) | |
| ERBB2 | |||
| • Mutated | 1 (1) | 24 (1) | TIER IIC |
| • WTWT | 98 (99) | 2837 (99) | |
| KRAS | |||
| • Mutated | 1 (1) | 25 (1) | Basket trials of all tumors |
| • WT | 98 (99) | 2836 (99) | |
| CNV | n = 99 | n = 2861 | |
| CNV total | |||
| • Amplified | 35 (35) | 770 (27) | |
| • WT | 64 (65) | 2091 (73) | |
| EGFR | |||
| • Amplified | 25 (25) | 519 (18) | TIER IIC |
| • WT | 74 (75) | 2342 (82) | |
| PIK3CA | |||
| • Amplified | 1 (1) | 23 (1) | TIER IIC |
| • WT | 98 (99) | 2838 (99) | |
| MET | |||
| • Amplified | 2 (2) | 40 (1) | TIER IIC |
| • WT | 97 (98) | 2821 (99) | |
| CDK4 | |||
| • Amplified | 8 (8) | 201 (7) | TIER IIC |
| • WT | 91 (92) | 2660 (93) | |
| CDK6 | |||
| • Amplified | 2 (2) | 36 (1) | TIER IIC |
| • WT | 97 (98) | 2825 (99) | |
| PDGFRA | |||
| • Amplified | 3 (3) | 156 (6) | |
| • WT | 96 (97) | 2702 (94) | |
| KIT | |||
| • Amplified | 2 (2) | 116 (4) | |
| • WT | 97 (98) | 2745 (96) | |
| Fusion | n = 99 | n = 514** | |
| Fusion total | |||
| • Yes | 21 (21) | 11 (2) | |
| • No | 78 (79) | 503 (98) | |
| EGFR | |||
| • Yes | 17 (17) | 5 (1) | TIER II C |
| • No | 82 (83) | 509 (99) | |
| RET | |||
| • Yes | 1 (1) | 0 | TIER IA all tumours |
| • No | 98 (99) | 514 | |
| MET | |||
| • Yes | 2 (2) | 2 (1) | TIER II C |
| • No | 97 (98) | 512 (99) | |
| FGFR3 | |||
| • Yes | 1 (2) | 4 (1) | TIER II C |
| • No | 98 898) | 510 (99) | |
CNV copy number variants, DB database, GBM glioblastoma multiforme, LGG low-grade glioma, SNV single nucleotide variants, TCGA The Cancer Genome Atlas Program, WT wild-type
TIER: Evidence-based variant categorization into four tiers [20]
*TCGA Pan Cancer Atlas + GLASS Consortium (Nature 2019) + MSK (Clin Cancer Researc2019) + TCGA Firehose Legacy [20–33]
**Only LGG