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
- In young patients (age 16-60) with previously untreated, cytogenetically normal acute myeloid leukemia, NPM1 mutation without FLT3-ITD was significantly associated with complete remission in multivariate analysis (odds ratio, 1.48; 95% CI, 1.21 to 1.80). Multivariate analysis was performed on all patients that were evaluated for a mutation in at least 1 gene (CEBPA, FLT3-ITD or NPM1) totaling 693/872 patients in the study. 130 patients had NPM1 mutations without FLT3-ITD. NPM1 mutations were evaluated in 570 patients (310 mutated). FLT3-ITD was evaluated in 531 patients (164 mutated).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/183
- 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
- 18450602
Drugs