Annotation Detail

Information
Associated Genes
ABL1
Associated Variants
ABL1 ABL1-RCSD ABL1 ABL1-RCSD
Associated Disease
Pediatric B-cell Acute Lymphoblastic Leukemia
Source Database
CIViC Evidence
Description
The ABL1-RCSD1 fusion was identified in a 6 yo boy with Ph-like B-ALL and hyperleukocytosis. Following standard induction therapy the patient had an MRD of 16.4% in bone marrow, indicating a poor response. Addition of imatinib decreased MRD to 2% at day 29. In addition, this study reports that expression of the ABL1-RCSD1 fusion protein in murine Ba/F3 cells promotes cytokine-independent proliferation and that viable cells were reduced following exposure to dasatinib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/7248
Gene URL
https://civic.genome.wustl.edu/links/genes/4
Variant URL
https://civic.genome.wustl.edu/links/variants/2680
Rating
3
Evidence Type
Predictive
Disease
Pediatric B-cell Acute Lymphoblastic Leukemia
Evidence Direction
Supports
Drug
Imatinib
Evidence Level
C
Clinical Significance
Sensitivity/Response
Pubmed
25207766
Drugs
Drug NameSensitivitySupported
ImatinibSensitivitytrue