Annotation Detail

Information
Associated Genes
ALK
Associated Variants
ALK p.Ile1171Thr (p.I1171T) ALK p.Ile1171Thr (p.I1171T)
Associated Disease
lung non-small cell carcinoma
Source Database
CIViC Evidence
Description
A 51 year old female never smoker was diagnosed with stage IV NSCLC with liver metastases, and had adverse response to crizotinib treatment, after which she responded to alectinib until disease progressed after 5 months with new liver metastases. Liver tumor biopsy was taken and estimated to be 15% tumor. Hybrid capture next generation sequencing was performed and an I1171N mutation was found in rearranged ALK, and estimated to be in 33% of the tumor cells. Ceritinib was given at 750 mg once daily but dose reduction to 600 mg once daily was required due to persistent nausea. CT showed regression of liver lesions and primary lung lesion and ongoing response was seen at 3 months.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1368
Gene URL
https://civic.genome.wustl.edu/links/genes/1
Variant URL
https://civic.genome.wustl.edu/links/variants/527
Rating
3
Evidence Type
Predictive
Disease
Lung Non-small Cell Carcinoma
Evidence Direction
Supports
Drug
Ceritinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
25736571
Drugs
Drug NameSensitivitySupported
CeritinibSensitivitytrue