Annotation Detail
Information
- Associated Genes
- NTRK3
- Associated Variants
- NTRK3 ETV6-NTRK3 FUSION
- Associated Disease
- congenital fibrosarcoma
- Source Database
- CIViC Evidence
- Description
- Nagasubramanian et al reports on a case of refractory infantile fibrosarcoma (IFS) with constitutive activation of the tropomyosin‐related kinase (TRK) signaling pathway from an ETS variant gene 6–neurotrophin 3 receptor gene (ETV6–NTRK3) gene fusion. The patient was diagnosed with IFS at 6 months of age. At 16 months the patient enrolled in a pediatric Phase 1 trial of LOXO‐101 (Larotrectinib, ARRY-470), an experimental, highly selective inhibitor of TRK. The patient experienced a rapid, radiographic response, demonstrating the potential for LOXO‐101 to provide benefit for IFS harboring NTRK gene fusions.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6473
- Gene URL
- https://civic.genome.wustl.edu/links/genes/3985
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2422
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Congenital Fibrosarcoma
- Evidence Direction
- Supports
- Drug
- Larotrectinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 27093299
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Larotrectinib | Sensitivity | true |