Annotation Detail

Information
Associated Genes
ALK
Associated Variants
ALK EML4-ALK E20;A20
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
In the PROFILE 1001 study, from 31 NSCLC tumors positive for ALK fusions with sufficient material for RT-PCR aided exon breakpoint identification, 1 case of EML4-ALK variant 2 (EML4 exon 20 fused to ALK exon 20) was found. This patient had adenocarcinoma and a 9 pack year smoking history. Crizotinib treatment duration was over 16 weeks. The patient had multiple lines of prior treatment and showed a partial response to first-time crizotinib treatment. Overall, in the 82 ALK positive patients treated in the study, 46 had partial responses (including this patient) and 1 had a complete response for an overall response rate of 57%.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1189
Gene URL
https://civic.genome.wustl.edu/links/genes/1
Variant URL
https://civic.genome.wustl.edu/links/variants/500
Rating
2
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