A case of 45, XO/46 X, dic (Y) (qter-p11:: p11-qter) mosaicism in Turner syndrome with mixed germ cell tumour

We report a case of a mixed germ cell tumor of the ovary in a patient with 45, XO/46, X, dic (Y)(qter-p11:: p11-qter) mosaicism. A 24-year-old girl was admitted to our Hospital because of bloating and abdominal pain for more than half a month. Physical examination showed short stature and webbed neck. Her lower abdomen was bulging. Chromosomal analysis showed 45, XO/46, X, dic (Y) (qter-p11:: p11-qter) mosaicism in karyotype ten years ago. Chemical examination found that the values of α-fetoprotein and CA-125 were elevated. CT scan of the whole abdomen and pelvis showed a large cystic solid mass in the lower abdomen and pelvis; bilateral ovaries and uterus were not visible. Pathological examination showed a mixed germ cell tumor. After operation, chemotherapy using bleomycin- etoposide- cisplatin was performed and the tumor marker went down. However, the a-Fetoprotein in the serum elevated again. CT scan of the abdomen showed a new mass in the right lobe of the liver. After 3 courses of Kealil-Cisplatin-Ancoda chemotherapy, the liver mass was resected and diagnosed as metastatic germ-cell tumor of the liver with yolk sac tumor component. The patient died at 6 months since the diagnosis of liver metastasis of tumor.