Annotation Detail

Information
Associated Genes
ALK
Associated Variants
ALK EML4-ALK E6;A20
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
In a set of 31 patients with NSCLC, RT-PCR was performed to test for known EML4-ALK variants. Five patients tested positive for the 3a/3b EML4-ALK variant. Of these, 4 had partial response (PR), and one had disease progression (DP), and this was the only DP in the group of 31. In contrast, of the 13 testing positive for EML4-ALK variant 1, 12 showed PR, and 1 showed stable disease. These results potentially mirror findings in the H2228 3a/3b containing NSCLC cell line where some literature indicates it does respond as strongly to ALK inhibition as other EML4-ALK NSCLC cell lines.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1193
Gene URL
https://civic.genome.wustl.edu/links/genes/1
Variant URL
https://civic.genome.wustl.edu/links/variants/503
Rating
4
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Crizotinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
20979469
Drugs
Drug NameSensitivitySupported
CrizotinibSensitivitytrue