Annotation Detail

Information
Associated Genes
ALK
Associated Variants
ALK p.Phe1245Val (p.F1245V) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 )
ALK p.Phe1245Val (p.F1245V) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 )
Associated Disease
neuroblastoma
Source Database
CIViC Evidence
Description
Clinical trial of entrectinib in patients with ALK/ROS/TRK altered tumors. One patient with an ALK F1245V-mutant neuroblastoma achieved a durable, confirmed partial response (PR) lasting 8.3 months. The patient remained on study treatment for more than 3.5 years because of clinical benefit.
Rating
3
Evidence Type
Predictive
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/2987
Gene URL
https://civic.genome.wustl.edu/links/genes/1
Variant URL
https://civic.genome.wustl.edu/links/variants/1295
Disease
Neuroblastoma
Evidence Direction
Supports
Drug
Entrectinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
28183697
Drugs
Drug NameSensitivitySupported
EntrectinibSensitivitytrue