Annotation Detail
Information
- Associated Genes
- NPM1
- Associated Variants
-
NPM1 EXON 12 MUTATION
NPM1 EXON 12 MUTATION - Associated Disease
- acute myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- Complete remission rates were higher (P<0.001) and both disease-free survival (N=205 vs 352, P=0.041) and overall survival (N=372 vs 956, P=0.022) were longer for AML patients with Exon 12 NPM1 mutations (irrespective of FLT3 status) than those with wildtype NPM1. Improved CR rates were also higher for those with NPM1 exon 12 mutations and normal karyotype. In multivariate analysis, NPM1 mutation alone (FLT3 wildtype) was associated with improved overall survival (but not DFS) in the entire cohort and in normal karyotype patients <60 years old.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/175
- Gene URL
- https://civic.genome.wustl.edu/links/genes/35
- Variant URL
- https://civic.genome.wustl.edu/links/variants/86
- Rating
- 3
- Evidence Type
- Prognostic
- Disease
- Acute Myeloid Leukemia
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Better Outcome
- Pubmed
- 16455956
Drugs