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NPM1-mutated AML is a distinct WHO 2022 / ICC 2022 entity and ELN 2022 favorable-risk cat...

Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.

IDBMA-NPM1-AML
TypeActionability
Statusreviewed 2026-04-27 | pending_clinical_signoff | actionability review required
DiseasesDIS-AML
SourcesSRC-CIVIC SRC-ELN-AML-2022 SRC-ESMO-AML-2020 SRC-NCCN-AML-2025 SRC-QUAZAR-WEI-2020 SRC-VIALE-A-DINARDO-2020

Actionability Facts

BiomarkerBIO-NPM1
Variantexon 12 frameshift insertions (type A 4-bp duplication most common; ~30% of de novo AML, ~50% of normal-karyotype AML)
DiseaseDIS-AML
ESCAT tierIA
Recommended combinations7+3 induction → consolidation (fit, NPM1-mut without FLT3-ITD, intermediate/favorable per SRC-ELN-AML-2022), oral azacitidine maintenance post-CR (per SRC-QUAZAR-WEI-2020), venetoclax + azacitidine (unfit per SRC-VIALE-A-DINARDO-2020), MRD-guided allogeneic HCT (NPM1-MRD persistence post-2 cycles per SRC-ELN-AML-2022)
Evidence summaryNPM1-mutated AML is a distinct WHO 2022 / ICC 2022 entity and ELN 2022 favorable-risk category in the absence of adverse co-mutations (per SRC-ELN-AML-2022, SRC-NCCN-AML-2025, SRC-ESMO-AML-2020). For fit patients, intensive induction (7+3 cytarabine/anthracycline) remains standard 1L; oral azacitidine maintenance after CR significantly prolongs OS in non-transplant patients (QUAZAR AML-001 Wei NEJM 2020 — median OS 24.7 vs 14.8 mo, HR 0.69). For unfit patients, venetoclax + azacitidine is preferred (VIALE-A DiNardo NEJM 2020 — NPM1-mutated subgroup particularly responsive, CR/CRi ~67%, mOS 14.7 mo). NPM1-mutation MRD by RT-qPCR drives post-CR intensification decisions in younger fit patients per SRC-ELN-AML-2022.

Notes

ESCAT IA / OncoKB Level 1 — definitional, prognostic, and MRD- trackable. Co-occurring FLT3-ITD high-allelic-ratio shifts NPM1-mut AML from favorable to intermediate/adverse risk per SRC-ELN-AML-2022; see also BMA-FLT3-ITD-AML for FLT3-targeted therapy. Mutation- specific therapy (e.g., menin inhibitors revumenib / ziftomenib in NPM1-mutated R/R AML) is in late-phase trials but has no FDA approval for NPM1 yet; menin-inhibitor sources not in repo.

Used By

No reverse references found in the YAML corpus.