Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
- ALK EML4-ALK C1156Y–L1196M
- Associated Disease
- lung non-small cell carcinoma
- Source Database
- CIViC Evidence
- Description
- A 28 year old patient with T4N3M1 stage lung adenocarcinoma harboring an EML4-ALK variant 1 fusion was treated with crizotinib after failing conventional therapy. The patient achieved a partial response but progressed after 5 months of treatment. Molecular analysis at this time identified two missense mutations in ALK C1156Y and L1196M. Ba/F3 cells expressing EML4-ALK L1196M or EML4-ALK C1156Y were more resistant to crizontinib treatment than those expressing EML4-ALK wildtype.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/236
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1
- Variant URL
- https://civic.genome.wustl.edu/links/variants/608
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Lung Non-small Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Crizotinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 20979473
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crizotinib | Resitance or Non-Reponse | true |