Table 1. Next-generation sequencing of biopsy specimensa.
| Biopsy (timing) | Molecular alterations |
|---|---|
| Soft tissue (pre-systemic chemotherapy) | PTCH1p.Q1366*, p.W197* |
| CDKN1A p.R140Q | |
| CDKN2A p.P81L | |
| CTNNA1 p.R383H | |
| LRP1B splice site c.9121-1G>A | |
| NOTCH1 p.W287* | |
| SLIT2 p.K325* | |
| SMARCA4 p.Q1166* | |
| TP53 p.P278S | |
| Liver (post-systemic chemotherapy) | CD274 (PD-L1) amplification JAK2 amplification PDCD1LG2 (PD-L2)amplification |
| CDKN1A p.R140Q CDKN2A p.P81L | |
| CTNNA1 p.R383H | |
| FLT1 p.E487K | |
| LRP1B splice site c.9121-1G>A, p.W2334* MLL2 splice site c.4132-1G>A NOTCH1 p.W287* PDGFRA p.E459K PIK3R2 p.Q412* PTCH1p.Q1366*, p.W197* SLIT2 p.K325* SMARCA4 p.Q1166* TERT promoter c.-139-138CC>TT | |
| TP53 p.P278S |
a
Foundation Medicine.
Pertinent genomic alterations for the treatment of this patient are indicated in bold. Mutated gene are indicated in italic.