Annotation Detail
Information
- Associated Genes
- AKT2
- Associated Variants
-
AKT2 AMPLIFICATION
(
ENST00000392038.7 )
AKT2 AMPLIFICATION ( ENST00000392038.7 ) - Associated Disease
- lung adenocarcinoma
- Source Database
- CIViC Evidence
- Description
- Case report of a 74-year old woman with EGFR- and ALK-negative lung adenocarcinoma. FISH identified a deletion of 5'RET (FISH, indicating RET-gene rearrangement) and genomic testing confirmed a fusion of KIF5B and RET, as well as an AKT2 gene amplification. The patient was enrolled in a clinical trial with vandetanib and everolimus (NCT01582191) with everolimus used to enhance brain accumulation of vandetanib. After two cycles of therapy a repeat MRI brain showed a decrease in the intracranial disease burden and PET/CT showed systemic response as well.
- Variant Origin
- N/A
- Variant Origin
- N/A
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1621
- Gene URL
- https://civic.genome.wustl.edu/links/genes/254
- Variant URL
- https://civic.genome.wustl.edu/links/variants/635
- Rating
- 1
- Evidence Type
- Predictive
- Disease
- Lung Adenocarcinoma
- Evidence Direction
- Supports
- Drug
- Everolimus,Vandetanib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25982012
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Everolimus | Sensitivity | true |
| Vandetanib | Sensitivity | true |