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
Younger (16-60), normal karyotype AML patients with Exon 12 NPM1 mutation and without FLT3-ITD have increased overall survival (N=74, P = .001), relapse-free survival (N=86, P < .001) and response to induction chemotherapy. Multivariate analysis identified NPM1 mutation in the absence of FLT3-ITD as a prognostic marker for the achievement of CR (P=0.004).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/185
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
16051734
Drugs