Table 1 Genetic variants detected via next-generation sequencing of pre-treatment and treatment-resistant tumor specimens
Baseline (pre-treatment) biopsy | Treatment-resistant biopsy |
|---|---|
Variants detected (NGS platform: OncoScreen ST2.0) | Variants detected (NGS platform: OncoPlus) |
Pathogenic variants | Pathogenic variants |
BRAF c.1799 T > A, p.V600E | BRAF c.1799 T > A, p.V600E |
CDKN2A loss | CDKN2A loss |
BRAF amplification | BRAF amplification |
PTEN loss | |
Variants of indeterminate clinical significance | |
APC c.385G > C, p.E129Q | |
APC c.6211A > G, p.I2071V | |
PTCH1 c.3641C > T, p.T1214 M | |
RET c.2939 + 6C > T | |
FANCA Loss | |
H3F3A Loss | |
NOTCH1 Loss | |
PALB2 Loss Equivocal | |
RAD51 Loss Equivocal | |
RET Loss | |
TSC1 Loss Equivocal | |
TSC2 Loss Equivocal |