Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A LOSS
(
ENST00000579755.2 )
CDKN2A LOSS ( ENST00000579755.2 ) - Associated Disease
- Ewing sarcoma
- Source Database
- CIViC Evidence
- Description
- A patient-derived xenograft (PDX) from a patient with cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) loss and FUS-ERG fusion positive Ewing's sarcoma was created. The PDX was treated in four cohorts (each N=6) with control, doxorubicin, CDK4/6 inhibitor palbociclib or IGF-1R inhibitor linsitinib. Both linsitinib and palbociclib cohorts were significantly more effective than control and doxorubicin. Doxorubicin was part of the patient's treatment (Neoadjuvant chemotherapy with DOX, vincristine, and cyclophosphamide) and was noted by authors as failing to control tumor growth.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1879
- Gene URL
- https://civic.genome.wustl.edu/links/genes/14
- Variant URL
- https://civic.genome.wustl.edu/links/variants/554
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Ewing Sarcoma
- Evidence Direction
- Supports
- Drug
- Linsitinib,Palbociclib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 27286459
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Linsitinib | Sensitivity | true |
| Palbociclib | Sensitivity | true |