Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
- BRAF KIAA1549-BRAF
- Associated Disease
- skin melanoma
- Source Database
- CIViC Evidence
- Description
- A 65 yr old male patient with metastatic acral lentiginous melanoma (BRAF, NRAS, KIT negative) was found to harbor a KIAA1549-BRAF (intron 15-intron 8) fusion in a subcutaneous metastasis sample after disease progression. Trametinib was started and fatigue and ECOG status improved but imaging revealed slight disease progression after 2 weeks (15 sites measurable, 9 stable, 6 progressive). No new metastases were identified. The patient was switched to pembrolizumab and major disease progression was noted.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1571
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/618
- Rating
- 1
- Evidence Type
- Predictive
- Disease
- Skin Melanoma
- Evidence Direction
- Supports
- Drug
- Trametinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 26072686
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Trametinib | Sensitivity | true |