Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
- BRAF PPFIBP2-BRAF
- Associated Disease
- skin melanoma
- Source Database
- CIViC Evidence
- Description
- Case report of a 47year old female patient with metastatic melanoma (BRAF, NRAS, KIT negative). A PPFIBP2-BRAF fusion was identified from DNA from a brain metastasis (inton 3 of PPFIBP2 fused to intron 10 of BRAF). Trametinib was introduced and anemia and ECOG status improved. Imaging revealed a 90% decrease in extracranial and 19% decrease in intracranial metastases with no new metastases and no progressing sites at 6 weeks. Trametinib was stopped and pembrolizumab introduced at this time. Progressive disease was noted after 5 cycles of pembrolizumab but re-introduction of trametinib did not show an effect.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1570
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/617
- Rating
- 2
- 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 |