Table 2. Summary of genomic alterations in patients with Merkel cell carcinoma.
| Aberration | Number of patients | Percent of patients | Potentially actionable [a] |
|---|---|---|---|
| TP53 | 12 | 71 | Yes |
| RB1 | 10 | 59 | No |
| NOTCH1 | 3 | 18 | No [b] |
| PIK3CA | 3 | 18 | Yes |
| BAP1 | 2 | 12 | Yes |
| BRCA1/2 | 2 | 12 | Yes |
| NF1 | 2 | 12 | Yes |
| AKT2 | 1 | 6 | Yes |
| ALK | 1 | 6 | Yes |
| APC | 1 | 6 | Yes |
| ARIDIA | 1 | 6 | No |
| ATM | 1 | 6 | Yes |
| CDKN2A/B | 1 | 6 | Yes |
| CDKN2C | 1 | 6 | Not clear [c] |
| CHEK2 | 1 | 6 | Yes |
| EGFR | 1 | 6 | Yes |
| EPHAS | 1 | 6 | Not clear [c] |
| FANCA | 1 | 6 | Yes |
| FBXW7 | 1 | 6 | Yes |
| KMT2D | 1 | 6 | Not clear [c] |
| MLH1 | 1 | 6 | Yes |
| MYC | 1 | 6 | No |
| NTRK3 | 1 | 6 | Yes |
| PDGFRB | 1 | 6 | Yes |
| PIK3R1 | 1 | 6 | Yes |
| PTCH1 | 1 | 6 | Yes |
| PTEN | 1 | 6 | Yes |
| RET | 1 | 6 | Yes |
| RICTOR | 1 | 6 | Yes |
| SMARCA4 | 1 | 6 | No |
[a]
Potentially actionable indicates some evidence in the literature that there are drugs that impact the target. This evidence may derive from clinical observations in other tumors or from preclinical evidence.
[b]
Activating NOTCH mutations are potentially actionable but the ones in this series were inactivating.
[c]
Not clear indicates mixed or inconclusive literature evidence for the potential of available drugs to impact the altered gene product.