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FOXL2 p.C134W Mutation

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IDBIO-FOXL2
ArtBiomarker
Aliase
FOXL2 C134WМутація FOXL2 p.C134W
Statusreviewed 2026-05-04 | pending_clinical_signoff
ErkrankungenDIS-GRANULOSA-CELL
QuellenSRC-ESMO-OVARIAN-2024 SRC-NCCN-OVARIAN-2025

Biomarker-Fakten

Biomarker-Typgene_mutation
Angaben zur Mutation{"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"}
Messung
VerfahrenTumor-NGS-Panel (DNA-basiert) oder dedizierte FOXL2 c.402C>G-Sanger/ddPCR-Test; hochrezidivierender Hotspot
Nachschlagewerk für die Aktionsfähigkeit{"gene": "FOXL2", "variant":"C134W"}
Verwandte BiomarkerNone declared

Anmerkungen

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...

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Therapeutische Relevanz

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