Table 3.
Genetic Alterations Identified Through NGS (N=15)
| GENE | Alterations (With allele frequency or copy number) |
|---|---|
| TP53 | V274F (10%) R282G (50%) R213* (29%) Y220C (2%) R342* (24%) C141* (21%) Splice site 559+1G>T (21%) F109V (46%) V272L |
| STK11 | R86* (11%) E120* (15%) K62fs*98 (6%) |
| CCNE1 | Amplification (copy no 11×) Amplification (copy no 13×) |
| MDM2 | Amplification (copy no 6×) Amplification (copy no 16×) |
| MYC | Amplification (copy no 12×) Amplification (copy no 7×) |
| RICTOR | Amplification (copy no 12×) Amplification (copy no 7×) |
| APC | S2113fs*25 (21%) |
| ARID1A | G284fs*78 (18%) |
| AURKA | S398L (48%) |
| CDKN2A | Truncation - exon 1 |
| CDKN2A/B | Loss Loss |
| CRKL | Amplification (copy no 12×) |
| FGF10 | Amplification (copy no 7×) |
| FGFR3-TACC | FGFR3-TACC3 fusion, Amplification (copy no 8×) |
| KRAS | G12C, 3% |
| MCL1 | Amplification (copy no 8×) Amplification (copy no 8×) |
| PRKAR1A | R97* (33%) |
| SMAD4 | Truncation |
| SMARCA4 | D558fs*6 (26%) |
| TSC2 | Loss |
| BAP1 | splice site 438-1delGTTTTTCCCC AG, 10% 1delGTTTTTCCCC AG, 10% |
| ERBB2 | Amplification (copy no 20×) Amplification (copy no 9×) |
| PIK3CA | Amplification (copy no 7×) |
| ZNF703 | Amplification (copy no 7×) |