We received a request for information on dysgerminomas in women with Down syndrome. Dysgerminomas are germ cell tumors that typically occur in the ovary. Testicular cancer is the comparable cancer in men with Down syndrome. Testicular cancer has been found to be more common in men with Down syndrome than in men without Down syndrome. Ovarian dysgerminomas in Down syndrome have been described but less frequently than testicular cancer.
Hasle et al. (2000) mentioned one case of dysgerminoma among three cases of ovarian cancer in their review of leukemia and solid tumors in people with Down syndrome in Denmark. Despite being an overall small number of cases of ovarian cancer, this was nearly twice the expected number of ovarian cancers. The article did not compare the one case of dysgerminoma to the expected number of dysgerminomas.
In 2016, Hasle et al. also reported 3 cases of ovarian tumors. The data comes from the same registry in Denmark with an extension of the time covered to include up to the end of 2012. It appears those are likely the same 3 cases from the earlier paper.
There are also a handful of case reports - articles describing one case of a woman with Down syndrome and a dysgerminoma. Satge et al. (2006) described a woman with Down syndrome who developed a dysgerminoma in France. In 1999, Smucker et al. also described a woman with a dysgerminoma in the United States.
At this time, there are limited reports of ovarian dysgerminomas in women with Down syndrome. The numbers are likely too small to make a true comparison of the frequency in women with Down syndrome versus in those without Down syndrome. We are not aware that the treatment for dysgerminomas is different or unique in women with Down syndrome. In our limited experience with men with Down syndrome who have had testicular cancer, the treatment provided was the same as that which would be provided for men without Down syndrome. The treatment approach has been successful in those patients. Some types of leukemia have required alterations in the treatment for optimal success for people with Down syndrome. Cancer screening and cancer treatment need ongoing research, particularly as the life expectancy of people with Down syndrome increases.