Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
-
ABL1 p.Phe378Val (p.F378V)
(
ENST00000318560.6,
ENST00000372348.9 )
ABL1 p.Phe378Val (p.F378V) ( ENST00000318560.6, ENST00000372348.9 ) - Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- Prior to dasatinib treatment, two imatinib-resistant patients with chronic myeloid leukemia (CML) in chronic phase had the BCR-ABL1 fusion, one with the T315I, F359V, M244V, and G250E variants in 2/10, 6/10, 1/10, and 1/10 clones, respectively, and the other with F359V, F359V/F486S, F359V/L273M, and L273M variants in 6/10, 1/10, 2/10, and 1/10 clones, respectively. Clones were generated using peripheral blood RNA. The patients had no best cytogenetic responses and no or complete best hematologic responses to dasatinib. Two additional patients with CML, in myeloid blast crisis, had F359V in 1/10 and 9/10 clones. They had no hematologic and no cytogenetic responses. Overall, responses were poor compared to responses in patients with unmutated BCR-ABL1.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/3820
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/892
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Supports
- Drug
- Dasatinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 16775234
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Dasatinib | Resitance or Non-Reponse | true |