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Mutação TP53 / del(17p)

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IDBIO-TP53-MUTATION
TipoBiomarcador
Alegais
17p eliminaçãoTP53do 17pmutação p53Мутація TP53 / del(17p)
Estadoreviewed 2026-04-25 | pending_clinical_signoff
DoençasDIS-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
FontesSRC-NCCN-AML-2025 SRC-NCCN-BCELL-2025 SRC-NCCN-MM-2025

Fatos de biomarcadores

Tipo de biomarcadorgene_mutation
Detalhes da mutação{"functional_impact": "loss_of_function (tumor suppressor)", "gene":"TP53", "gene_hugo_id": «11998", "variant_type": ‘missense / absurdo / frameshift / empilhagem / 17p deletion'}
Medição
MétodoNGS painel (PCR + sequenciamento) para mutações pontuais + FISH para del(17p13.1) em células tumorais
Unidadescategorical (positive | negative); positive = mutation OR del(17p) OR both
Biomarcadores relacionadosBIO-CLL-HIGH-RISK-GENETICS BIO-MM-CYTOGENETICS-HR

Notas

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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