Annotation Detail

Information
Associated Genes
PDGFRB
Associated Variants
PDGFRB EBF1-PDGFRB
Associated Disease
childhood B-cell acute lymphoblastic leukemia
Source Database
CIViC Evidence
Description
A 16-year-old boy with B-cell acute lymphoblastic leukemia refractory to conventional chemotherapy and harboring an IKZF1 deletion (delta 2-7) and a 5q33 microdeletion resulting in an EBF1-PDGFRB fusion responded to continuous imatinib (400 mg/d) during consolidation. Following consolidation therapy that included dexamethasone, vincristine, etoposide, cytarabine, and high-dose methotrexate, MRD declined to 10^-5 and the patient underwent bone marrow transplant. MRD performed at 105 days post-BMT found no detectable blasts with a sensitivity of 10^-5.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/6976
Gene URL
https://civic.genome.wustl.edu/links/genes/4176
Variant URL
https://civic.genome.wustl.edu/links/variants/535
Rating
3
Evidence Type
Predictive
Disease
Childhood B-cell Acute Lymphoblastic Leukemia
Evidence Direction
Supports
Drug
Imatinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
24186319
Drugs
Drug NameSensitivitySupported
ImatinibSensitivitytrue