Annotation Detail

Information
Associated Genes
CDKN2A
Associated Variants
CDKN2A LOSS ( ENST00000579755.2 )
CDKN2A LOSS ( ENST00000579755.2 )
Associated Disease
dermatofibrosarcoma protuberans
Source Database
CIViC Evidence
Description
An imatinib-resistant cell line, DFSP105, was established from a dermatofibrosarcoma protuberans which had progressed to a high-grade fibrosarcomatous DFSP. The disease-associated PDGFB-COL1A1 fusion was consistent with the most common form, a supernumerary ring chromosome. Genetic characterization of the cell line with a SNP array identified a homozygous CDKN2A/B deletion. Treatment of this cell line with CDK4/6 inhibitor palbociclib led to growth inhibition and reduced RB1 phosphorylation in vitro and in-vivo.
Variant Origin
Unknown
Variant Origin
Unknown
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1881
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
Dermatofibrosarcoma Protuberans
Evidence Direction
Supports
Drug
Palbociclib
Evidence Level
D
Clinical Significance
Sensitivity/Response
Pubmed
25852058
Drugs
Drug NameSensitivitySupported
PalbociclibSensitivitytrue