Annotation Detail
Information
- Associated Genes
- PML
- Associated Variants
- PML PML-RARA
- Associated Disease
- acute promyelocytic leukemia
- Source Database
- CIViC Evidence
- Description
- A 39-year old woman who presented with acute myeloid leukemia revealed a complicated genetic profile using conventional metaphase cytogenetics and FISH analysis. Whole genome sequencing elucidated a PML-RARA fusion, which can be successfully treated with ATRA. Uncovering this mutation prevented an unnecessary allogeneic transplant and the patient remained in remission 15 months post-treatment (date of publication).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1519
- Gene URL
- https://civic.genome.wustl.edu/links/genes/39
- Variant URL
- https://civic.genome.wustl.edu/links/variants/108
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Acute Promyelocytic Leukemia
- Evidence Direction
- Supports
- Drug
- Tretinoin
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 21505136
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Tretinoin | Sensitivity | true |