Annotation Detail
Information
- Associated Genes
- ALK
- Associated Variants
-
ALK p.Arg1275Gln (p.R1275Q)
(
ENST00000389048.8,
ENST00000618119.4,
ENST00000642122.1 )
ALK p.Arg1275Gln (p.R1275Q) ( ENST00000389048.8, ENST00000618119.4, ENST00000642122.1 ) - Associated Disease
- neuroblastoma
- Source Database
- CIViC Evidence
- Description
- This Phase I study of crizotinib involved a cohort of pediatric neuroblastoma patients between ages 12 months and 22 years. In 11 patients with characterized ALK mutations, 4 had R1275Q mutations, and two of these were germline mutations. Of these 2 germline patients, 1 showed stable disease (SD) and 1 complete response (CR). In contrast, in the 7 characterized patients with ALK mutations that were not R1275Q, 6 showed PD and 1 SD. The authors conclude this finding is promising and merits further study.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1269
- Gene URL
- https://civic.genome.wustl.edu/links/genes/1
- Variant URL
- https://civic.genome.wustl.edu/links/variants/9
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Neuroblastoma
- Evidence Direction
- Supports
- Drug
- Crizotinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 23598171
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crizotinib | Sensitivity | true |