Description
AML with mutated NPM1 is a provisional entity in the WHO classification of AML and is recommended to be tested in patients with cytogenetically normal AML (CN-AML). FLT3 mutations should be evaluated concurrently as they have prognostic consequences. NPM1 mutations are concentrated in exon 12, most frequently W288fs which results in cytoplasmic sequestration of the protein. Exon 12 NPM1 mutations in the absence of FLT3-ITD are associated with good prognostic outcomes. Mice expressing the Npm1-W288fs mutation develop myeloproliferative neoplasms but not overt leukemia, indicating it may require additional mutations to promote leukemic development.
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Variants (3)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 86 | EXON 11 MUTATION EXON 12 MUTATION | exon_variant | |
| 3138 | MUTATION | ||
| 87 | W288FS NPM1-A,RS587776806,TRP288FS | NM_002520.6:c.860_863dupTCTG,NC_000005.9:g.170837544_170837547dupTCTG,NP_002511.1:p.Trp288Cysfs,ENST00000517671.1:c.860_863dupTCTG | frameshift_elongation |