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TP53-mutated AML (adverse risk)

Visão determinística da entidade fonte YAML. A autoridade clínica permanece com os IDs de fonte citados e estado de assinatura do revisor.

IDBIO-AML-TP53-ADVERSE
TipoBiomarcador
Alegais
AML TP53-mutAML p53TP53-AML adversaAML mutada TP53ГМЛ з мутацією TP53 (несприятливий ризик)
Estadoreviewed 2026-04-30 | pending_clinical_signoff
DoençasNenhuma declaração
FontesSRC-ELN-AML-2022 SRC-IPSS-M-BERNARD-2022 SRC-NCCN-AML-2025

Fatos de biomarcadores

Tipo de biomarcadorgene_mutation
Detalhes da mutação{"functional_impact": "loss_of_function (tumor suppressor); ELN-2022 adverse-risk classifier", "gene": "TP53", "variant_type": "missense / nonsense / frameshift / splice / 17p deletion"}
Medição
MétodoNGS painel (mieloide) + FISH para del(17p13.1); VAF relatado (distinção mono- vs biallélica crítica)
Unidadescategorical (mutated | wild-type); VAF % + zygosity (mono- / biallelic / multi-hit)
Biomarcadores relacionadosBIO-TP53-MUTATION BIO-MDS-DEL-5Q

Notas

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.

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Biomarcador