Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
- ALK EML4-ALK E20;A20
- Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- This case study presented a 53-year-old never-smoker with a poorly differentiated malignant neoplasm. Morphology and immunohistochemistry were unable to establish the primary tumor site. Right upper extremity (RUE), scalp, and multiple lung lesions were apparent. A lung lesion sample with sufficient material for molecular profiling was not attainable but sufficient material was present from the RUE for hybrid capture genomic profiling (FoundationOne kit was used). EML4-ALK variant 2 was found, and the patient was started on crizotinib. Rapid symptom improvement was seen. After 1 month, a CT scan showed significant size reduction in lung tumors, and after 5 months the patient was asymptomatic with an entirely negative examination.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1245
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1
- Variant URL
- https://civic.genome.wustl.edu/links/variants/500
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Supports
- Drug
- Crizotinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25408655
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crizotinib | Sensitivity | true |