Annotation Detail
Information
- Associated Genes
- ABL1
- Associated Variants
- ABL1 p.Thr334Ile (p.T334I) ABL1 p.Thr334Ile (p.T334I)
- Associated Disease
- chronic myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- Bone marrow mononuclear cells (BM MNCs) were isolated from a chronic myeloid leukemia patient with the BCR-ABL1 T315I variant. The patient was pretreated with imatinib, dasatinib, and chemotherapy. The patients' cells were sensitive to Ponatinib and Axitinib and insensitive to Nilotinib, Imatinib, and Dasatinib compared to BM MNCs from healthy controls using drug sensitivity scoring of proliferation assays. In a rezasurin proliferation assay, Ba/F3 cells carrying the T315I variant in the ABL1 portion of the BCR-ABL fusion showed high sensitivity to ponatinib (IC50 of 11 nM vs. 3.1 nM in wildtype fusions).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7779
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Chronic Myeloid Leukemia
- Evidence Direction
- Does Not Support
- Drug
- Ponatinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 25686603
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Ponatinib | Resitance or Non-Reponse | false |