Annotation Detail

Information
Associated Genes
PDGFRB
Associated Variants
PDGFRB PDGFRB FUSIONS PDGFRB PDGFRB FUSIONS
Associated Disease
myeloproliferative neoplasm
Source Database
CIViC Evidence
Description
Twelve patients with BCR-ABL-negative chronic myeloproliferative disease and reciprocal translocations involving PDGFRB received imatinib for a median of 47 months (range, 0.1-60 months). Eleven had prompt responses, 10 had complete resolution of cytogenetic abnormalities and decrease or disappearance of fusion transcripts as measured by reverse transcriptase-polymerase chain reaction (RT-PCR). Updates were sought from 8 further patients previously described in the literature; prompt responses were described in 7 and persist in 6.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1498
Gene URL
https://civic.genome.wustl.edu/links/genes/4176
Variant URL
https://civic.genome.wustl.edu/links/variants/568
Rating
4
Evidence Type
Predictive
Disease
Chronic Myeloproliferative Disease
Evidence Direction
Supports
Drug
Imatinib
Evidence Level
A
Clinical Significance
Sensitivity/Response
Pubmed
16960151
Drugs
Drug NameSensitivitySupported
ImatinibSensitivitytrue