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TP53-mutierte AML (gefährliche Nebenwirkung)

Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.

IDBIO-AML-TP53-ADVERSE
ArtBiomarker
Aliase
AML TP53-mutAML p53TP53-AML-NebenwirkungTP53-mutierte AMLГМЛ з мутацією TP53 (несприятливий ризик)
Statusreviewed 2026-04-30 | pending_clinical_signoff
ErkrankungenNone declared
QuellenSRC-ELN-AML-2022 SRC-IPSS-M-BERNARD-2022 SRC-NCCN-AML-2025

Biomarker-Fakten

Biomarker-Typgene_mutation
Angaben zur Mutation{"functional_impact": "loss_of_function (tumor suppressor); ELN-2022 adverse-risk classifier", "gene": "TP53", "variant_type": "missense / nonsense / frameshift / splice / 17p deletion"}
Messung
VerfahrenNGS-Panel (myeloid) + FISH für del(17p13.1); VAF berichtet (mono- vs. biallelic Unterscheidung kritisch)
Einheitencategorical (mutated | wild-type); VAF % + zygosity (mono- / biallelic / multi-hit)
Verwandte BiomarkerBIO-TP53-MUTATION BIO-MDS-DEL-5Q

Anmerkungen

TP53-mutated AML is its own ELN-2022 adverse-risk category and a WHO 5th-edition entity. Median OS 5-9 months on standard chemo or HMA-based therapy; alloHCT carries higher relapse risk vs TP53-WT AML but remains the only potentially curative pathway. Multi-hit (biallelic, often via del(17p) + point mutation) predicts even worse outcome than mono-hit. Active research questions: ven+aza (modest CR rate ~40% but short PFS), magrolimab+aza (failed ENHANCE phase-3), eprenetapopt+aza (mixed phase 2/3). NOT clear best regimen — flag triggers RF-AML-TP53-ADVERSE which routes to: (1) alloHCT consideration when fit, (2) ven+aza backbone for unfit, (3) clinical-trial referral preferentially. Distinct from BIO-TP53-MUTATION (the cross-disease standalone marker entity) and RF-MDS-TP53-MUTATION (MDS-specific RF) — this AML-scoped composite exists because the AML adverse-risk routing is distinct from MDS.

Verwendet von

Biomarker