TP53-mutated AML (adverse risk)
Vue déterministe de l'entité source de la LJAM. L'autorité clinique demeure avec les ID de la source cités et l'état d'approbation de l ́examinateur.
| ID | BIO-AML-TP53-ADVERSE |
|---|---|
| Type | Biomarqueur |
| Alias | AML TP53-mutAML p53TP53-AML indésirableTP53-mutated AMLГМЛ з мутацією TP53 (несприятливий ризик) |
| État | reviewed 2026-04-30 | pending_clinical_signoff |
| Maladies | Aucune déclaration |
| Sources | SRC-ELN-AML-2022 SRC-IPSS-M-BERNARD-2022 SRC-NCCN-AML-2025 |
Données biomarqueurs
| Type de biomarqueur | gene_mutation |
|---|---|
| Détails de la mutation | {"functional_impact": "loss_of_function (tumor suppressor); ELN-2022 adverse-risk classifier", "gene": "TP53", "variant_type": "missense / nonsense / frameshift / splice / 17p deletion"} |
| Mesure | MéthodePanneaux NGS (myéloïde) + FISH pour del(17p13.1); FAV rapporté (distinction mono- par rapport à biallélique critique) Unitéscategorical (mutated | wild-type); VAF % + zygosity (mono- / biallelic / multi-hit) |
| Biomarqueurs connexes | BIO-TP53-MUTATION BIO-MDS-DEL-5Q |
Notes
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.
Utilisé par
Biomarqueur
BIO-MDS-DEL-5Q- MDS avec anomalie cytogénétique del(5q)BIO-WT1-MUTATION- mutation WT1 (gène de la tumeur 1 de Wilms)