CTNNB1 mutation activatrice (β-caténine)
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.
| ID | BIO-CTNNB1 |
|---|---|
| Type | Biomarqueur |
| Alias | CTNNB1 / mutation bêta-caténineАктивуюча мутація CTNNB1 (β-катенін) |
| État | reviewed 2026-05-04 | pending_clinical_signoff |
| Maladies | DIS-ENDOMETRIAL |
| Sources | SRC-ESGO-ENDOMETRIAL-2025 SRC-NCCN-HCC-2025 SRC-NCCN-UTERINE-2025 |
Données biomarqueurs
| Type de biomarqueur | gene_mutation |
|---|---|
| Détails de la mutation | {"exon": "3 (caisse de phosphorylation/destruction: codons 32–45), "functional_impact": «activer», "gène":"CTNNB1", "variant_type":«missense activant (S33C, S37F, T41A, S45P, D32Y le plus commun; prévenir la phosphorylation et la dégradation protéasomale médiate par GSK-3β)} |
| Mesure | MéthodePanneaux NGS tumoraux (séquençage de l'exon 3); IHC (accumulation nucléaire de β-caténine — substitut de mutation, concordance d'environ 95 % avec l'Exon 3 hotspot) |
| Recherche de la faisabilité | {"gene": "CTNNB1", "variant": "activating_mutation"} |
| Biomarqueurs connexes | Aucune déclaration |
Notes
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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Pertinence thérapeutique
BMA-CTNNB1-ENDOMETRIAL- CTNNB1 exon 3 mutations occur in ~25–30% of endometrial carcinoma (EC), predominantly end...
Biomarqueur
BIO-APC- mutation / troncation de la perte de fonction APC