TP53-mutated AML (adverse risk)

Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.

ID	`BIO-AML-TP53-ADVERSE`
Type	Biomarker
Aliases	AML TP53-mutAML p53TP53-AML adverseTP53-mutated AMLГМЛ з мутацією TP53 (несприятливий ризик)
Status	reviewed 2026-04-30 \| pending_clinical_signoff
Diseases	None declared
Sources	`SRC-ELN-AML-2022` `SRC-IPSS-M-BERNARD-2022` `SRC-NCCN-AML-2025`

Biomarker Facts

Biomarker type	gene_mutation
Mutation details	{"functional_impact": "loss_of_function (tumor suppressor); ELN-2022 adverse-risk classifier", "gene": "TP53", "variant_type": "missense / nonsense / frameshift / splice / 17p deletion"}
Measurement	MethodNGS panel (myeloid) + FISH for del(17p13.1); VAF reported (mono- vs biallelic distinction critical) Unitscategorical (mutated \| wild-type); VAF % + zygosity (mono- / biallelic / multi-hit)
Related biomarkers	`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.

Used By

Biomarker

BIO-MDS-DEL-5Q - MDS with del(5q) cytogenetic abnormality
BIO-WT1-MUTATION - WT1 mutation (Wilms tumor 1 gene)