Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
- BRAF KIAA1549-BRAF
- Associated Disease
- sarcoma
- Source Database
- CIViC Evidence
- Description
- A patient with a malignant spindle cell tumor of the chest wall treated as a soft tissue sarcoma was identified to harbor a KIAA1549-BRAF fusion. This patient responded to treatment with the pan-kinase inhibitor sorafenib in combination with bevacizumab and temsirolimus, achieving stable disease after 2 cycles extending into 11 cycles at which time she expired due to co-morbidities (acute myocardial infarction, hypotension). Of note, sequencing of 236 cancer-related genes identified CDKN2A A68fs*51, SUFU E283fs*3, MAP3K1 N325fs*3 and homozygous deletion of PTEN as well.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1664
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/618
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Sarcoma
- Evidence Direction
- Supports
- Drug
- Temsirolimus,Bevacizumab,Sorafenib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 24422672
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Bevacizumab | Sensitivity | true |
| Sorafenib | Sensitivity | true |
| Temsirolimus | Sensitivity | true |