FOXL2 p.C134W mutación
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-FOXL2 |
|---|---|
| Tipo | Biomarcador |
| Aliaces | FOXL2 C134WМутація FOXL2 p.C134W |
| Situación | reviewed 2026-05-04 | pending_clinical_signoff |
| Enfermedades | DIS-GRANULOSA-CELL |
| Fuentes | SRC-ESMO-OVARIAN-2024 SRC-NCCN-OVARIAN-2025 |
Datos sobre biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalles de la mutación | {"exon": "1 (single exon gene)", "functional_impact": "dominant-negative / gain-of-function", "gene": "FOXL2", "hgvs_cdna": "c.402C>G", "hgvs_protein": "p.C134W", "variant_type": "missense"} |
| Medición | MétodoPanel de NGS tumoral (basado en ADN) o dedicado a FOXL2 c.402C>G Ensayo de Sanger/ddPCR; punto de contacto altamente recurrente |
| Consulta de la capacidad de acción | {"gene": "FOXL2", "variante":"C134W"} |
| Productos químicos y químicos | Ninguna declarada |
Notas
FOXL2 (Forkhead Box L2) is a transcription factor essential for granulosa cell differentiation and maintenance of ovarian identity. The p.C134W (c.402C>G) hotspot mutation is present in ~97% of adult granulosa cell tumors (AGCTs) and is the only known pathognomonic point mutation in any solid tumor (100% specificity if hotspot confirmed). The mutation is a dominant-negative gain-of-function: C134W FOXL2 protein mislocalizes and aberrantly activates target genes (including CYP19A1/aromatase), driving estrogen excess. Clinically, the mutation is used: (1) Diagnostic: confirms AGCT vs other sex cord-stromal tumors (Sertoli-Leydig, fibroma). (2) Prognostic/monitoring: ctDNA detection of FOXL2 c.402C>G for early relapse detection (AGCTs recur late — 10–20 years post-diagnosis; ctDNA surveillance under investigation). (3) Therapeutic target: FOXL2 inhibition and CDK4/6 inhibitors (olaparib, palbociclib, ribociclib) are in clinical trials. Luteinizing hormone-RH agonists (leuprolide) and progestins are used for recurrent disease but no FDA approval in this specific context. ESCAT IIB: clinically useful diagnostic marker with emerging predictive utility; no FDA-approved targeted drug for...
Utilizado por
Relevancia terapéutica
BMA-FOXL2-GRANULOSA-CELL- FOXL2 p.C134W (c.402C>G) es el marcador molecular que define...
Enfermedad
DIS-GRANULOSA-CELL- Tumor de células granulosas adultas del ovario
Indicación
IND-GRANULOSA-CELL-1L-CARBOPLATIN-PACLITAXEL- IND-GRANULOSA-CELL-1L-CARBOPLATIN-PACLITAXEL