Adult<unk> s Ovarian tumours by incidence and risk of ovarian cancer, with adult<unk>  at right. Using next generation DNA sequencing, 97% of adult<unk> s were found to contain an identical mutation in the FOXL2 gene . This is a somatic mutation, meaning it is not usually transmitted to descendants. Mutation c.402C>G in the sequence of FOXL2 leads to the amino acid substitution p. C134W. It is believed that this mutation may be the cause of<unk> s. Juvenile<unk> s Two recent studies show that the enzyme AKT1 is involved in juvenile<unk> s. In-frame duplications in the pleckstrin-homology domain of the protein were found in more than 60% of juvenile<unk> s occurring in girls under 15 years of age. The tumours without duplications carried point mutations affecting highly conserved residues. The mutated proteins carrying the duplications displayed a non-wild-type subcellular distribution, with a marked enrichment at the plasma membrane, leading to a strong activation of AKT1. Analysis by RNA-Seq pinpointed a series of differentially expressed genes that are involved in cytokine and hormone signaling and cell division-related processes. Further analyses pointed to a possible dedifferentiation process, and suggested that most of the transcriptomic dysregulations might be mediated by a limited set of transcription factors perturbed by AKT1 activation. These results incriminate somatic mutations of AKT1 as probable driver events in the pathogenesis of juvenile<unk> s.
Granulosa cell tumour
Sertoli cell tumour
Leydig cell tumour
Gonadoblastoma
Metanephric adenoma
Germ cell tumor
Sertoli–Leydig cell tumour
Ovarian germ cell tumors