OTHER OVARIAN NEOPLASMS
Non-epithelial ovarian Tumours are found with increased frequency in Peutz– Jeghers syndrome (sex cord-stromal and granulosa cell Tumours which are often hormone secreting) and Gorlin syndrome (ovarian fibroma), and Ollier disease and Maffucci syndrome have both been associated with ovarian granulosa cell Tumours with precocious pseudopuberty. A family has been described in which ovarian germ cell Tumours were found in two daughters of a woman who herself had had an ovarian Tumours in childhood, and her third child had a soft tissue sarcoma, but the paucity of such case reports of familial female germ cell Tumours suggests that most sporadic forms of ovarian germ cell Tumours are not attributable to inherited mutations in cancer susceptibility genes (Giambartolomei et al. 2009). Teratomas are thought to be pathogenic, arising from a single female germ cell after the first meiotic division.
There is a single-case report of a mixed ovarian germ cell Tumours occurring in a BRCA2 carrier – interestingly, no LOH was seen and thus it is possible that this was an unrelated, chance finding (Hamel et al. 2007).
Ovarian fibromas have been reported in a family in which the condition could have been inherited as an autosomal sex-limited dominant trait. Ovarian sex cord–stromal Tumours can occur in STK11 mutation carrier (usually with annular tubules) and more recently have been associated with germline DICER1 mutations, particularly in the form of Sertoli–Leydig cell Tumours (SLCT), when there may be associated androgenization (Rio Frio et al. 2011; Slade et al. 2011). In this context, SLCTs can be associated with goiter (Rio Frio et al. 2011) or other features of the DICER1-PPB syndrome (Schultz et al. 2011). SLCTs have also occasionally reported in STK11 mutation carriers (Hales et al. 1994; Howell et al. 2010).
Gonadoblastoma is a dysgenetic gonadoma that does not metastasize but which may be associated with dysgerminoma and other malignant germ cell elements. The overwhelming majority (96 %) of gonadoblastomas develop in dysgenetic gonads of 46XY individuals. Most patients with this Tumours are phenotypic females, the rest are phenotypic males with abnormalities of the genitalia and undescended testes (Giambartolomei et al. 2009).