Annotation Detail
Information
- Associated Genes
- PDGFRB
- Associated Variants
- PDGFRB EBF1-PDGFRB
- Associated Disease
- Pediatric B-lymphoblastic Leukemia
- Source Database
- CIViC Evidence
- Description
- The EBF1-PDGFRB fusion was detected in leukemia cells of a 7 year old Latino boy who presented with B-ALL and initial WBC of 600,000. He failed to enter remission with 4 drug induction (90% blasts at day 23), and showed testicular involvement. SNP array showed deletion of IKZF1 deletion and gains in 5q32 and 5q33.3 that interrupted the PDGFRB and EBF1 loci, respectively. FISH studies demonstrated an extra PDGFRB signal with suspect EBF1-PDGFRB that needs molecular confirmation. Imatinib, cyclophosphamide and etoposide were commenced with MRD 4.3% after 1 month. Imatinib dose was increased with MRD 0.44% after additional month of treatment. MRD was 0.0226% after two months of dasatinib treatment, and the patient proceeded to matched unrelated donor hematopoietic stem cell transplantation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7128
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4176
- Variant URL
- https://civic.genome.wustl.edu/links/variants/535
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Pediatric B-lymphoblastic Leukemia
- Evidence Direction
- Supports
- Drug
- Imatinib,Dasatinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25207766