Annotation Detail

Information
Associated Genes
ALK
Associated Variants
ALK EML4-ALK I1171S
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
Case study describes a caucasian male (age 38) never smoker presenting with stage IV non-small cell lung cancer with an ALK rearrangement. Patient was given crizotinib and exhibited a partial response after 5 months with brain metastasis occurring at 21 months. Patient then received alectinib and exhibited partial response however liver metastasis presented after 12 months on alectinib. Sequencing of this liver metastasis revealed an EML4-ALK fusion with an I1171S variant at a variant frequency of 36% (tumor purity estimated as 70%).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1484
Gene URL
https://civic.genome.wustl.edu/links/genes/1
Variant URL
https://civic.genome.wustl.edu/links/variants/589
Rating
2
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Alectinib,Crizotinib
Evidence Level
C
Clinical Significance
Resistance
Pubmed
25393796
Drugs
Drug NameSensitivitySupported
AlectinibResitance or Non-Reponsetrue
CrizotinibResitance or Non-Reponsetrue