Annotation Detail
Information
- Associated Genes
- RUNX1
- Associated Variants
-
RUNX1 MUTATION
RUNX1 MUTATION - Associated Disease
- acute myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- In 878 non-APL patients with AML (18-60 years), those who had mutations in RUNX1 (N=53) had shorter event-free survival (8% vs 30%, P<0.0001) and relapse-free survival (26% vs 44%, P=0.022) relative to wild-type. EFS was also shorter for the cytogenetically normal (CN) subgroup with RUNX1 mutations (N=34; 10% vs 34%; P<0.0001) compared to wild-type (N=499), but only trending for relapse-free survival (29% vs 43%; P=0.21). For multivariate analysis, RUNX1 was a significant marker of inferior EFS in the entire cohort (P=0.011) and the intermediate-risk (P=0.005) subgroup but not the CN subgroup.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/430
- Gene URL
- https://civic.genome.wustl.edu/links/genes/43
- Variant URL
- https://civic.genome.wustl.edu/links/variants/155
- Rating
- 4
- Evidence Type
- Prognostic
- Disease
- Acute Myeloid Leukemia
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 21343560
Drugs