Annotation Detail

Information
Associated Genes
ALK
Associated Variants
ALK p.Phe1174Leu (p.F1174L) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 )
ALK p.Phe1174Leu (p.F1174L) ( ENST00000618119.4, ENST00000642122.1, ENST00000389048.8 )
Associated Disease
neuroblastoma
Source Database
CIViC Evidence
Description
In a Phase I trial (NCT00939770) of the drug crizotinib in pediatric patients, a subset of 11 neuroblastoma patients were characterized for mutations in ALK. Of these 11 patients, 4 had the F1174L mutation. Among these 4 patients, stable disease (SD) was observed in one, and progressive disease (PD) was observed in 3 others after administration of crizotinib. In contrast, in the remaining 7 patients with mutations different than F1174L, 4 had PD, 2 had SD and one had complete response as best response after initiation of crizotinib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1271
Gene URL
https://civic.genome.wustl.edu/links/genes/1
Variant URL
https://civic.genome.wustl.edu/links/variants/8
Rating
3
Evidence Type
Predictive
Disease
Neuroblastoma
Evidence Direction
Does Not Support
Drug
Crizotinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
23598171
Drugs
Drug NameSensitivitySupported
CrizotinibSensitivityfalse