NPM1 mutation (cytoplasmic NPM1)
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-NPM1 |
|---|---|
| Type | Biomarker |
| Aliases | NPM1 mutationNPM1 type ANPM1cМутація NPM1 (цитоплазматичний NPM1) |
| Status | reviewed 2026-04-27 | pending_clinical_signoff |
| Diseases | None declared |
| Sources | SRC-ELN-AML-2022 SRC-NCCN-AML-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"exon": "12", "functional_impact": "Aberrant cytoplasmic NPM1 localization; dysregulated transcription / nucleolar function; HOXA upregulation", "gene": "NPM1", "gene_hugo_id": "HGNC:7910", "hotspots": ["Type A — c.860_863dupTCTG / p.W288fs (~75–80% of NPM1-mutant AML)", "Type B — c.863_864insCATG", "Type D — c.863_864insCCTG"], "variant_type": "frameshift insertion (4-bp duplication)"} |
| Measurement | MethodPCR / fragment-length assay (rapid TAT) OR NGS panel; real-time qPCR for MRD monitoring (post-induction + post-consolidation) Unitscategorical at diagnosis; copies / 10^4 ABL transcripts for MRD (ELN-MRD ≥2-log reduction = molecular response) Sensitivity requirementMRD qPCR LoD ~10^-5; results inform consolidation intensification + allo-HSCT decisions |
| Actionability lookup | {"gene": "NPM1", "variant": "W288fs"} |
| Related biomarkers | BIO-FLT3-ITD BIO-FLT3-D835 |
Notes
~30% of adult AML; ~50% of cytogenetically normal AML. ELN-2022: NPM1-mut without FLT3-ITD = favorable risk; with FLT3-ITD = intermediate. MRD qPCR is one of the strongest prognosticators — ELN-MRD-2021 standardizes timepoints. Selinexor monotherapy + later selinexor combinations explored in NPM1-mut R/R AML (mechanism: XPO1 inhibition restores nuclear NPM1 / p53). Menin inhibitors (revumenib, ziftomenib) are investigational for NPM1-mut and KMT2A-r AML.
Used By
Actionability
BMA-NPM1-AML- NPM1-mutated AML is a distinct WHO 2022 / ICC 2022 entity and ELN 2022 favorable-risk cat...
Biomarker
BIO-FLT3-D835- FLT3 tyrosine kinase domain (TKD) mutationBIO-FLT3-F691L- FLT3 F691L gilteritinib-resistance gatekeeper mutationBIO-FLT3-ITD- FLT3 internal tandem duplication (ITD)BIO-KMT2A-REARRANGEMENT- KMT2A rearrangement (MLL fusion)