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mutation TP53 / del(17p)

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.

IDBIO-TP53-MUTATION
TypeBiomarqueur
Alias
Suppression 17pTP53du 17e sièclemutation p53Мутація TP53 / del(17p)
Étatreviewed 2026-04-25 | pending_clinical_signoff
MaladiesDIS-AML DIS-BREAST DIS-CERVICAL DIS-CLL DIS-CRC DIS-DLBCL-NOS DIS-ENDOMETRIAL DIS-ESOPHAGEAL DIS-GASTRIC DIS-GBM DIS-HCC DIS-MCL DIS-MDS-HR DIS-MELANOMA DIS-MM DIS-MPNST DIS-NSCLC DIS-OVARIAN DIS-PDAC DIS-PROSTATE DIS-RCC DIS-SCLC DIS-THYROID-PAPILLARY DIS-UROTHELIAL
SourcesSRC-NCCN-AML-2025 SRC-NCCN-BCELL-2025 SRC-NCCN-MM-2025

Données biomarqueurs

Type de biomarqueurgene_mutation
Détails de la mutation{"functional_impact": "loss_of_function (tumor suppressor)", "gene": "TP53", "gene_hugo_id": "11998", "variant_type": "missense / nonsense / frameshift / splice / 17p deletion"}
Mesure
MéthodePanneau NGS (PCR + séquençage) pour les mutations ponctuelles + FISH pour del(17p13.1) sur les cellules tumorales
Unitéscategorical (positive | negative); positive = mutation OR del(17p) OR both
Biomarqueurs connexesBIO-CLL-HIGH-RISK-GENETICS BIO-MM-CYTOGENETICS-HR

Notes

Universal adverse marker across most hematologic + solid malignancies — predicts poor response to chemo + chemoimmuno; selects for novel- agent regimens / targeted therapies / cellular therapy / alloSCT. **Cross-disease decision impact in our KB (current scope):** - **CLL/SLL**: TP53-mut OR del(17p) → contraindicates chemoimmuno (FCR/BR); favors fixed-duration VenO (CLL14) over BTKi continuous in some guidelines. Captured in composite BIO-CLL-HIGH-RISK-GENETICS + RF-CLL-HIGH-RISK. - **MCL**: TP53-mut → predicts chemoimmuno failure (intensive R-CHOP/R-DHAP+autoSCT outcomes substantially worse); routes to BTKi-based 1L (acalabrutinib+R) regardless of fitness. Captured in RF-MCL-BLASTOID-OR-TP53. - **MM**: del(17p) part of high-risk cytogenetics composite — drives quadruplet (D-VRd) over triplet (VRd). Captured in BIO-MM-CYTOGENETICS-HR + RF-MM-HIGH-RISK-CYTOGENETICS. - **DLBCL** (future scope): predicts R-CHOP failure; flag for early CAR-T pathway consideration at 2L+. Not yet driving 1L algorithm. - **AML** (future scope, not in KB yet): TP53-mut AML has dismal chemo outcomes — currently routes directly to alloSCT consideration + venetoclax-azacitidine for unfit + clinical trials....

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Pertinence thérapeutique

Biomarqueur

Maladie

Chapitres du manuel

Indication

Signal d’alerte