SMO activando mutación (Limpiado)
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-SMO |
|---|---|
| Tipo | Biomarcador |
| Aliaces | SMO mutationАктивуюча мутація SMO (Smoothened) |
| Situación | reviewed 2026-05-04 | pending_clinical_signoff |
| Enfermedades | DIS-BCC |
| Fuentes | SRC-ESMO-SARCOMA-2024 SRC-NCCN-SKIN-2025 |
Datos sobre biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalles de la mutación | {"exon": "multiple", "functional_impact": "activating", "gene": "SMO", "variant_type": "missense activating"} |
| Medición | MétodoPanel de NGS tumoral (basado en ADN); variantes comunes: W535L, L412F, Q477E, S533N |
| Consulta de la capacidad de acción | {"gene": "SMO", "variant": "activating_mutation"} |
| Productos químicos y químicos | BIO-PTCH1 |
Notas
SMO (Smoothened) is a G-protein-coupled receptor that transmits Hedgehog (HH) signaling. Normally suppressed by PTCH1; activated when PTCH1 loses its inhibitory function (whether via PTCH1 loss-of-function or SMO gain-of-function mutation). SMO activating mutations (~10–20% of BCCs) and PTCH1 loss-of-function (~90% of BCCs) both result in constitutive HH pathway activation. Vismodegib and sonidegib are SMO antagonists — they bind the SMO transmembrane domain and block downstream HH signaling (GLI1/2 repression). In practice, BCC HHI therapy does not require pre-testing for SMO vs PTCH1 mutation — all BCCs have HH pathway activation. SMO mutations also occur in sporadic medulloblastoma (SHH subtype) and rarely in other tumors. Resistance: secondary SMO mutations (D473H most common) emerge during vismodegib therapy, driving acquired resistance. Sonidegib may be active in some vismodegib-resistant D473H mutants.
Utilizado por
Relevancia terapéutica
BMA-SMO-BCC- Inhibidores de la vía del hedgehog (HH) - vismodegib (Erivedge, FDA 2012) y sonidegib (Odomzo,...
Biomarcador
BIO-PTCH1- Mutación por pérdida de función del PTCH1 (Patched-1)
Enfermedad
DIS-BCC- Carcinoma de células basales (BCC)
Indicación
IND-BCC-1L-SONIDEGIB- IND-BCC-1L-SONIDEGIB