Mutación SF3B1
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-SF3B1 |
|---|---|
| Tipo | Biomarcador |
| Aliaces | SF3B1 K700EМутація SF3B1 |
| Situación | reviewed 2026-04-27 | pending_clinical_signoff |
| Enfermedades | Ninguna declarada |
| Fuentes | SRC-ESMO-MDS-2021 SRC-IPSS-M-BERNARD-2022 SRC-NCCN-AML-2025 |
Datos sobre biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalles de la mutación | {"functional_impact": "Aberrant 3' splice-site recognition → cryptic exon inclusion → nonsense-mediated decay of target transcripts (e.g. ABCB7 in MDS-RS)", "gene": "SF3B1", "gene_hugo_id": "HGNC:10768", "hotspots": ["K700E (~50% of SF3B1-mutant cases — most common)", "K666N / K666E / K666T", "H662 / R625 / E622"], "variant_type": "missense (HEAT-domain hotspots)"} |
| Medición | MétodoPanel ADN-NGS (panel mieloide, panel linfoide o panel grande de tumor sólido) UnidadesCATEGORÍA DE LOS SERVICIOS DE FUNCIONAMIENTO Requisito de sensibilidadEGN estándar |
| Productos químicos y químicos | BIO-CLL-HIGH-RISK-GENETICS |
Notas
MDS: ~20% overall, ~80% of MDS with ring sideroblasts (MDS-LR-RS in WHO-2022 / ICC-2022). SF3B1-mutant MDS-LR-RS has a distinct biology — favorable in IPSS-M, transfusion-dependent anemia phenotype, responds to luspatercept (COMMAND, MEDALIST). Also luspatercept ESAs first-line for low-risk MDS irrespective of RS in some regions per ESMO 2024 update. CLL: ~10–20%, adverse prognostic marker. Uveal melanoma: ~20%, intermediate prognosis (vs BAP1 worst). H3B-8800 / E7107 splicing modulators in development but no approved agents target SF3B1 directly.
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