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
- Peripheral blood from NPM1 mutated AMLs was assessed for NPM1 mutation status at multiple time points using RT-qPCR with primers designed to amplify different mutant NPM1 transcripts. The test development cohort consisted of 194 cases and an independent validation cohort consisted of 91 cases. Persistence of NPM1-mutated transcripts in blood was present in 15% of the patients after the second chemotherapy cycle. This persistence was associated with a greater risk of relapse after 3 years of follow-up than was an absence of such transcripts (82% vs. 30%; hazard ratio, 4.80; 95% confidence interval [CI], 2.95 to 7.80; P<0.001) and a lower rate of survival (24% vs. 75%; hazard ratio for death, 4.38; 95% CI, 2.57 to 7.47; P<0.001). The presence of minimal residual disease was the only independent prognostic factor for death in multivariate analysis (hazard ratio, 4.84; 95% CI, 2.57 to 9.15; P<0.001). On sequential monitoring of minimal residual disease, relapse was reliably predicted by a rising level of NPM1-mutated transcripts.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1102
- Gene URL
- https://civic.genome.wustl.edu/links/genes/35
- Variant URL
- https://civic.genome.wustl.edu/links/variants/86
- Rating
- 4
- Evidence Type
- Prognostic
- Disease
- Acute Myeloid Leukemia
- Evidence Direction
- Supports
- Evidence Level
- B
- Clinical Significance
- Poor Outcome
- Pubmed
- 26789727
Drugs