CTNNB1 Aktivierungsmutation (β-Catenin)
Deterministische Ansicht der Quelle YAML Entität. Klinische Autorität bleibt mit den zitierten Quell-IDs und Rezensenten Sign-off Zustand.
| ID | BIO-CTNNB1 |
|---|---|
| Art | Biomarker |
| Aliase | CTNNB1 / Beta-Catenin-MutationАктивуюча мутація CTNNB1 (β-катенін) |
| Status | reviewed 2026-05-04 | pending_clinical_signoff |
| Erkrankungen | DIS-ENDOMETRIAL |
| Quellen | SRC-ESGO-ENDOMETRIAL-2025 SRC-NCCN-HCC-2025 SRC-NCCN-UTERINE-2025 |
Biomarker-Fakten
| Biomarker-Typ | gene_mutation |
|---|---|
| Angaben zur Mutation | {"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)"} |
| Messung | VerfahrenTumor-NGS-Panel (Exon-3-Sequenzierung); IHC (nukleare β-Catenin-Kumulation — Ersatz für Mutation, ~95% Übereinstimmung mit exon-3 Hotspot) |
| Nachschlagewerk für die Aktionsfähigkeit | {"gene": "CTNNB1", "variant": "activating_mutation"} |
| Verwandte Biomarker | None declared |
Anmerkungen
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...
Verwendet von
Therapeutische Relevanz
BMA-CTNNB1-ENDOMETRIAL- CTNNB1 exon 3 mutations occur in ~25–30% of endometrial carcinoma (EC), predominantly end...
Biomarker
BIO-APC- APC-Funktionsverlust-Mutation / Beschneidung