NPM1-mutated AML ist ein eigenständiges WHO 2022 / ICC 2022 Entität und ELN 2022 günstiges Risiko Katze...
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BMA-NPM1-AML |
|---|---|
| Art | Therapeutische Relevanz |
| Status | reviewed 2026-04-27 | pending_clinical_signoff | actionability review required |
| Erkrankungen | DIS-AML |
| Quellen | SRC-CIVIC SRC-ELN-AML-2022 SRC-ESMO-AML-2020 SRC-NCCN-AML-2025 SRC-QUAZAR-WEI-2020 SRC-VIALE-A-DINARDO-2020 |
Fakten zur Handlungsfähigkeit
| Biomarker | BIO-NPM1 |
|---|---|
| Variante | exon 12 frameshift Einfügungen (Typ A 4-bp-Duplikation am häufigsten; ~30% de novo AML, ~50% des normalen Karyotyps AML) |
| Erkrankung | DIS-AML |
| ESCAT-Stufe | IA |
| Empfohlene Kombinationen | 7+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) |
| Zusammenfassung der Beweise | NPM1-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. |
Anmerkungen
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.
Verwendet von
Keine Rückverweise im YAML-Korpus gefunden.