Table 5.
Association Between Genetic Alterations in PIK3CA, PTEN and TSC1 and Treatment Response
| 8-Week Treatment Response | Patient | Gene | Genetic Alteration | Functional Impact* | Best RECIST Response | Time on Therapy (days) |
|---|---|---|---|---|---|---|
| PR | TUR | TSC1 | R500* LOH | Inactivating | −74% | 483 |
|
| ||||||
| SD | RC | TSC1 | S331Efs*10 LOH | Inactivating | −2% | 110 |
| Lung Metastasis | TSC1 | S331Efs*10 | Inactivating | |||
|
| ||||||
| TUR | PIK3CA | Amplification | Activating | 0% | 86 | |
| TSC1 | LOH | Deletion | ||||
|
| ||||||
| TUR | 7% | 106 | ||||
|
| ||||||
| RC | PTEN | LOH | Deletion | 9% | 83 | |
| Sigmoid Colon | PTEN | LOH | Deletion | |||
| Invasion | ||||||
|
| ||||||
| RC Micropapillary | 11% | 167 | ||||
| RC UC, NOS | ||||||
|
| ||||||
| PD | Nephroureterectomy | 23% | 55 | |||
|
| ||||||
| Nephroureterectomy | PIK3CA | H1047R | Activating | 27% | 55 | |
|
| ||||||
| RC | PIK3CA | E542K | Activating | 36% | 48 | |
| RC LN | TSC1 | LOH | Deletion | |||
|
| ||||||
| RC | 45% | 41 | ||||
|
| ||||||
| CP | RC-1 | NA | 3 | |||
| RC-2 | ||||||
| RC-LN | ||||||
| Metastatic LN | PIK3CA | R108H | Activating | |||
CP= Clinical progression due to malignant bowel obstruction
LN= Lymph Node
NOS = Not Otherwise Specified
PD= Progressive Disease
RC=Radical Cystectomy
SD= Stable Disease
TUR= Transurethral Resection
*
= Analyzed via MSK IMPACT Only