CTNNB1 mutación activadora (β-catenina)
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-CTNNB1 |
|---|---|
| Tipo | Biomarcador |
| Aliaces | CTNNB1 / mutación beta-cateninaАктивуюча мутація CTNNB1 (β-катенін) |
| Situación | reviewed 2026-05-04 | pending_clinical_signoff |
| Enfermedades | DIS-ENDOMETRIAL |
| Fuentes | SRC-ESGO-ENDOMETRIAL-2025 SRC-NCCN-HCC-2025 SRC-NCCN-UTERINE-2025 |
Datos sobre biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalles de la mutación | {"exon": "3 (phosphorylation/destruction box: codons 32–45)", "functional_impact": "activating", "gene": "CTNNB1", "variant_type": "missense activating (S33C, S37F, T41A, S45P, D32Y most common; prevent GSK-3β-mediated phosphorylation and proteasomal degradation)"} |
| Medición | MétodoPanel NGS tumoral (sequencia del exón 3); IHC (acumulación nuclear de β-catenina — sustituta de la mutación, concordancia de ~95% con el exón 3 puntos críticos) |
| Consulta de la capacidad de acción | {"gene": "CTNNB1", "variant": "activating_mutation"} |
| Productos químicos y químicos | Ninguna declarada |
Notas
CTNNB1 encodes β-catenin, a dual-function protein: (1) structural (adherens junctions, E-cadherin complex); (2) transcriptional (WNT signaling effector, activating TCF/LEF target genes including MYC, CCND1). Activating mutations in exon 3 prevent destruction complex (APC/AXIN/GSK-3β/CK1) from phosphorylating β-catenin, leading to nuclear accumulation and constitutive WNT target gene activation. Key clinical contexts: (1) Endometrial cancer (EC): CTNNB1 exon 3 mutations in ~25–30%, predominantly in endometrioid histology. The TCGA molecular classification: CTNNB1 mutation is enriched in the NSMP (No Specific Molecular Profile) and POLE-ultramutated groups. Critical prognostic finding: CTNNB1 mutations, particularly in FIGO stage I-II EC, associate with L1CAM overexpression and high risk of recurrence despite low stage — this subgroup may benefit from adjuvant chemotherapy (EC-specific risk stratification per ESGO/ESMO/ESTRO 2023). CTNNB1-mutant NSMP EC is classified as intermediate/ high-intermediate risk. (2) HCC: CTNNB1 mutations in ~20–30%, associated with the β-catenin activated molecular subtype (cholestatic, hepatocytic differentiation). CTNNB1-mutant HCC has lower response r...
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Relevancia terapéutica
BMA-CTNNB1-ENDOMETRIAL- CTNNB1 exon 3 mutations occur in ~25–30% of endometrial carcinoma (EC), predominantly end...
Biomarcador
BIO-APC- Mutación / truncación de pérdida de función de APC