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FOXL2 mutation in Adult Granulosa Cell Tumor (GCT): A recurrent somatic missense point mutation in forkhead box L2 (FOXL2) gene on chromosome 3 is seen in 97-100% of adult GCTs and is absent in juvenile GCT and epithelial ovarian cancers. The mutation is also seen in about 20% of thecomas, most of which are admixed with a minor component of adult GCT.
FOXL2 is a highly conserved transcription factor and is one of the earliest markers of ovarian differentiation. It plays a critical role in granulosa cell development and steroidogenesis.
The mutation is a C→G change at position 402 in FOXL2 resulting in substitution of a tryptophan residue (W) for a highly conserved cysteine residue (C) at amino acid position 134 (C134W). Mutated FOXL2 results in up-regulation of cell-cycle progression genes (including CCND2) and down-regulation of apoptosis genes resulting in tumorigenesis. Illustration drawn with BioRender.
FOXL2 is a highly conserved transcription factor and is one of the earliest markers of ovarian differentiation. It plays a critical role in granulosa cell development and steroidogenesis.
The mutation is a C→G change at position 402 in FOXL2 resulting in substitution of a tryptophan residue (W) for a highly conserved cysteine residue (C) at amino acid position 134 (C134W). Mutated FOXL2 results in up-regulation of cell-cycle progression genes (including CCND2) and down-regulation of apoptosis genes resulting in tumorigenesis. Illustration drawn with BioRender.