Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK ALTERNATIVE TRANSCRIPT (ATI)
ALK ALTERNATIVE TRANSCRIPT (ATI) - Associated Disease
- skin melanoma
- Source Database
- CIViC Evidence
- Description
- Expression of an alternative ALK transcript (ATI), encompassing exons 20–29 preceded by ~400 base pairs (bp) of intron 19, but not exons 1–19 was identified in three samples of thyroid cancer and melanoma. In TCGA samples, ALK ATI was expressed in approx. 11% of melanoma samples. Functional activity of ALK ATI was shown in-vitro. In vivo studies confirmed oncogenic activity of ALK ATI similar to other ALK mutations or fusions and sensitivity to crizotinib. A patient with metastatic melanoma and ALK ATI expression but no MET or ALK aberrations identified with FISH and a 341-gene panel sequencing was treated with crizotinib and had symptomatic improvement and tumor shrinkage within 6 weeks of therapy
- Variant Origin
- N/A
- Variant Origin
- N/A
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1936
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1
- Variant URL
- https://civic.genome.wustl.edu/links/variants/839
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Skin Melanoma
- Evidence Direction
- Supports
- Drug
- Crizotinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 26444240
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crizotinib | Sensitivity | true |