FOXL2 p.C134W mutação
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| ID | BIO-FOXL2 |
|---|---|
| Tipo | Biomarcador |
| Alegais | FOXL2 C134WМутація FOXL2 p.C134W |
| Estado | reviewed 2026-05-04 | pending_clinical_signoff |
| Doenças | DIS-GRANULOSA-CELL |
| Fontes | SRC-ESMO-OVARIAN-2024 SRC-NCCN-OVARIAN-2025 |
Fatos de biomarcadores
| Tipo de biomarcador | gene_mutation |
|---|---|
| Detalhes da mutação | {"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"} |
| Medição | MétodoPanel NGS tumoral (com base em ADN) ou FOXL2 c.402C dedicado>G Ensaio Sanger/ddPCR; ponto de alta recidiva |
| Procura de ação | {"gene": "FOXL2", "variante":"C134W"} |
| Biomarcadores relacionados | Nenhuma declaração |
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...
Usado por
Relevância terapêutica
BMA-FOXL2-GRANULOSA-CELL- FOXL2 p.C134W (c.402C>G) é o marcador molecular definidor do tumor de células granulosas adultas (...
Doença
DIS-GRANULOSA-CELL- Tumor de células granulosas adultas do ovário
Indicação
IND-GRANULOSA-CELL-1L-CARBOPLATIN-PACLITAXEL- IND-GRANULOSA-CELL-1L-CARBOPLATIN-PACLITAXEL