Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 BCR-ABL F311V
ABL1 BCR-ABL F311V - Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- In this study, patients on imatinib monotherapy were monitored for ABL1 kinase domain variants in BCR-ABL1 fusions amplified from peripheral blood RNA. Among 64 patients initially in late-chronic phase (CP), 11 (79%) of 14 with secondary ABL1 variants acquired resistance compared to 2 (4%) of 50 without detectable variants. A CP patient had a partial hematologic response with the Q252H and M351T variants present. The patient progressed to myeloid blast crisis (MBC) and was then negative for secondary variants. However, they had cytogenetic evidence of double Ph-chromosomes and later died. Among 40 patients initially in accelerated phase (AP), 13 of 13 who had secondary variants acquired resistance compared to 2 (7%) of 27 with unmutated BCR-ABL1. An AP patient had a complete hematologic response with the F359V and M351T variants present. The patient progressed to myeloid blast crisis (MBC) at which point there were no secondary variants but cytogenetic evidence of double Ph-chromosomes.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/8093
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/3009
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 12623848
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Resitance or Non-Reponse | true |