Table 5.
Summary of mutation positive cases identified by target capture DNA sequencing
| Sample | Histology | Mol. group | Depth | BRAF/FGFR1 | Additional mutations |
|---|---|---|---|---|---|
| GNT03 | GG | 1 | 682 | BRAF-V600E (12%) | ARID1B-Q717K (49%) |
| GNT15 | GG | 1 | 432 | BRAF-V600E (12%) | |
| GNT22 | GG | 1 | 37 | BRAF-V600E (15%) | CTNNB1-A39V (10%) |
| GNT16 | GG | 1 | 698 | BRAF-V600E (20%) | ASXL1-R235W (42%) |
| GNT21 | GG | 1 | 264 | BRAF-V600E (22%) | |
| GNT51 | GG | 1 | 677 | BRAF-V600E (24%) | ASXL1-S1428P (51%) |
| GNT40 | GNT NOS | 1 | 1051 | BRAF-V600E (25%) | |
| GNT17 | GG | 1 | 518 | BRAF-V600E (26%) | |
| GNT35 | GG | 1 | 557 | BRAF-V600E (32%) |
FGFR2-Q779A (46%), CDNK2A/B Del, ATM-R2461C (20%) |
| GNT29 | GG | 1 | 20 | BRAF-V600E (50%) | |
| GNT45 | GG | 1 | 14 | BRAF-V600E (50%) | |
| GNT18 | GG | 1 | 708 | BRAF-V600E (1%) | H3F3A-K27M (29%) |
| GNT09 | GG | 1 | 185 | BRAF-V600E (4%) | |
| GNT37 | DNET | 2 | 953 | FGFR1-A334T (32%) | |
| GNT31 | DNET | 2 | 258 | FGFR1-L567E (36%) | ATM-R1039L (9%) |
| GNT07 | GNT NOS | 2 | 711 | FGFR1 duplication | |
| GNT23 | DNET | 1 | 414 | FGFR1 duplication | MLL2-R3596W (43%) |
| GNT33 | DNET | 2 | 410 | FGFR1 duplication | |
| GNT10 | DNET | 2 | 714 | FGFR1 duplication | |
| GNT43 | DNET | 2 | 1153 | FGFR1 duplication | TP53-R282Q (47%), N235S (44%) |
| GNT38 | DNET | 2 | 1021 | FGFR1 duplication | AKT1-E117 Del (37%) |
| GNT14 | GNT NOS | 2 | 173 | FGFR1 duplication | |
| GNT24 | DNET | 2 | 488 | FGFR1 e18 Inversion | MAP2K2-S127L (46%) |
| GNT36 | GG | 2 | 1568 | N/A |
HRAS-A134V (48%), APC-E1209K (44%), WT1-G60R (38%) |
| GNT13 | GG | 1 | 974 | N/A | NF1-L585 Frameshift (54%) |
| GNT49 | GG | 2 | 791 | N/A | ARID1A-158S (72%), ACVR1-V435 Del (42%) |
| GNT11 | GG | 1 | 7 | N/A | |
| GNT08 | GG | 1 | 1251 | N/A | ARID1B-H92L (38%) |
| GNT42 | GG | 1 | 607 | N/A | HIST1H3B-M121T (47%) |
| GNT30 | GG | 2 | 39 | N/A | MYCN + CDK4 Amplified |
| GNT47 | GNT NOS | 1 | 712 | N/A | ATM-V2696L (48%) |