Ovarian gonadoblastoma with the karyotype of 46, XX: A case report

Abstract Gonadoblastoma is a rare tumor comprised of sex cord derivatives and germ cells. The risk for developing gonadoblastoma increases significantly in patients who possess a Y chromosome or Y chromosome material. A 49-year-old Chinese woman found a pelvic mass during a routine physical examination. Pathological analysis after surgery indicated that the tumor was unilateral ovarian gonadoblastoma with dysgerminoma. Compared with other cases in the literature, our patient was the oldest, and the tumor mass was smaller. Karyotype analysis of peripheral blood lymphocytes revealed that the woman had a 46, XX female karyotype. Whole-exon sequencing revealed that some mutations, such as altered somatic genes in the Forkhead box protein O (FoxO) signaling pathway and KIT, might cause the disease. In conclusion, we described a rare case of gonadoblastoma in a woman who had normal routine menstruation, sexual development, and successful pregnancies and possessed a normal female 46, XX karyotype.