Annotation Detail
Information
- Associated Genes
- NRG1
- Associated Variants
- NRG1 APP-NRG1 fusion
- Associated Disease
- pancreatic ductal adenocarcinoma
- Source Database
- CIViC Evidence
- Description
- Whole genome sequencing and transcriptomic analysis were performed on 47 advanced PDAC patients. 3/47 patients were KRAS wildtype and all three of these cases harbored a NRG1 fusion. In a 54-year-old with metastatic PDAC, a complex rearrangement involving the insertion of exons 6 and 7 of NRG1 between exons 15 and 16 of APP was found. This in-frame fusion resulted in the preservation and increased expression of the EGF-like domain of NRG1, which is required for HER-family kinase activation. Treatment with afatinib resulted in the resolution of multiple metastases and imaging showed ongoing response 5 months after treatment initiation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7493
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2593
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2772
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Pancreatic Ductal Adenocarcinoma
- Evidence Direction
- Supports
- Drug
- Afatinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 31068372
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Afatinib | Sensitivity | true |