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Sequencing of adult granulosa cell tumours found a single recurrent mutation in the FOXL2 gene in almost every case, giving this rare ovarian cancer a defining molecular marker and a diagnostic test.
Whole-transcriptome sequencing of four adult granulosa cell tumours followed by targeted validation in 89 additional adult tumours and other ovarian tumours, identifying the FOXL2 c.402C>G (C134W) mutation in 97 percent of adult granulosa cell tumours and rarely in other tumour types.
FOXL2 mutation testing is now used to confirm the diagnosis of adult granulosa cell tumour, and the mutation is central to understanding and treating the disease.