Table 1.
Overview of patients analyzed based on comprehensive sequencing
| Patient | Cancer Type | Sequen-cing | No. of actionable variants | No. of therapies (cancer-type specific, off-label, investigational) | No. of therapies lacking benefit | Comments |
|---|---|---|---|---|---|---|
| 1 | Cutaneous Melanoma | WES | 13 | 12 (2,4,6) | NA (not yet part of workflow) | Patient died before the report could be delivered. Based on an observed PTCH1 amplification reported in the SwissMTB analysis, vismodegib would have been considered as treatment. |
| 2 | Cutaneous Melanoma | WES | 13 | 19 (2,12,5) | 5 | Based on the high mutational load of this tumor anti-CTLA4 treatment was recommended. The patient was treated accordingly and showed a complete response. |
| 3 | Cutaneous Melanoma | WES/WGS | 6 | 12 (3,4,5) | 5 | NRAS Q61K resistance variant identified and trametinib treatment recommended. |
| 4 | Uveal Melanoma | WES/WGS | 3 | 7 (0,4,3) | 5 | Based on a PXR loss Taxol treatment was recommended. The patient was treated accordingly, but progressed after 2 months of therapy. |
| 5 | Cutaneous Melanoma | WES/WGS | 5 | 8 (2,5,1) | 3 | Based on the high mutational load anti-CTLA4 treatment was recommended. The patient was treated accordingly with a combination of anti-CTLA4 and anti-PD1 therapy and showed partial response. |
| 6 | Mucosal Melanoma | WES/WGS/RNA-seq | 3 | 7 (0,4,3) | 3 | At the time of report delivery, the condition of the patient did not allow any treatment. |
| 7 | Mucosal Melanoma | WES/WGS/RNA-seq | 6 | 12 (0,7,5) | 1 | Patient died before the report could be delivered. |
| 8 | Uveal Melanoma | WES/WGS | 4 | 10 (0,4,6) | 1 | Based on GNA11 Q209L variant treatment with sorafenib was decided but insurance did not cover drug costs. |
| 9 | Uveal Melanoma | WES/WGS/RNA-seq | 4 | 10 (0,4,6) | 1 | Patient died before the report could be delivered. |
| 10 | Uveal Melanoma | WES/WGS/RNA-seq | 5 | 11 (0,5,6) | 1 | Based on observed FGFR4 overexpression, ponatinib was recommended as off-label treatment. However, the patient died before the report could be discussed in the molecular tumor board. |
| 11 | Cutaneous Melanoma | WES/WGS/RNA-Seq | 4 | 6 (0,4,2) | 0 | Based on observed MET overexpression the patient received crizotinib as off-label treatment. |
| Summary: median (IQR) | 5 (2) | 10 (4.5) | 2 (3.5) | |||
Abbreviations: IQR Interquartile range