TP53-mutated AML (adverse risk)
Vista determinista de la entidad fuente YAML. La autoridad clínica sigue con los ID de fuente citados y estado de firma del revisor.
| ID | BIO-AML-TP53-ADVERSE |
|---|---|
| Tipo | Biomarcador |
| Aliaces | AML TP53-mutAML p53TP53-AML adversoAML mutado TP53ГМЛ з мутацією TP53 (несприятливий ризик) |
| Situación | reviewed 2026-04-30 | pending_clinical_signoff |
| Enfermedades | Ninguna declarada |
| Fuentes | SRC-ELN-AML-2022 SRC-IPSS-M-BERNARD-2022 SRC-NCCN-AML-2025 |
Datos sobre biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalles de la mutación | {"functional_impact": "loss_of_function (tumor suppressor); ELN-2022 adverse-risk classifier", "gene": "TP53", "variant_type": "missense / nonsense / frameshift / splice / 17p deletion"} |
| Medición | MétodoPanel NGS (mieloide) + FISH para del(17p13.1); FAV reportado (distinción mono- vs biallélica crítica) Unidadescategorical (mutated | wild-type); VAF % + zygosity (mono- / biallelic / multi-hit) |
| Productos químicos y químicos | BIO-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.
Utilizado por
Biomarcador
BIO-MDS-DEL-5Q- MDS con anormalidad citogenética del(5q)BIO-WT1-MUTATION- mutación WT1 (gen de tumor de Wilms 1)