Morimura Y, Nishiyama H, Yanagida K, Sato A
Department of Obstetrics and Gynecology, Fukushima Medical College, Hikarigaoka, Japan.
Obstet Gynecol. 1998 Oct;92(4 Pt 2):654-6. doi: 10.1016/s0029-7844(98)00117-3.
Dysgerminoma with syncytiotrophblastic giant cells is a rare ovarian tumor. Only ten cases of this tumor have been reported, and all tumors developed in normal ovaries. This report presents a case of dysgerminoma with syncytiotrophoblastic giant cells arising in a patient with 46,XX pure gonadal dysgenesis.
An 18-year-old phenotypic female of normal height without somatic anomalies with nonfunctional ovaries underwent a bilateral gonadectomy for a right ovarian tumor and left streak gonad. The tumor revealed a dysgerminoma containing scattered syncytiotrophoblastic giant cells. Her serum hCG was elevated, and hCG was demonstrated within syncytiotrophoblastic giant cells immunohistochemically. The clinical diagnosis was stage Ia dysgerminoma with syncytiotrophoblastic giant cells. Her karyotype was 46,XX and the sex-determining region Y gene was not detected in tumor DNA by polymerase chain reaction analysis.
This rare gonadal tumor may arise from dysgenetic gonads in addition to gonadoblastoma and pure dysgerminoma. It is an example of tumorgenesis in pure gonadal dysgenesis with no identifiable Y chromosome component.
伴有合体滋养层巨细胞的无性细胞瘤是一种罕见的卵巢肿瘤。仅报道过10例该肿瘤，且所有肿瘤均发生于正常卵巢。本报告介绍了1例发生于46,XX单纯性腺发育不全患者的伴有合体滋养层巨细胞的无性细胞瘤。
一名18岁表型正常、身高正常且无躯体异常、卵巢无功能的女性因右侧卵巢肿瘤和左侧条索状性腺接受了双侧性腺切除术。肿瘤显示为含有散在合体滋养层巨细胞的无性细胞瘤。她的血清人绒毛膜促性腺激素（hCG）升高，免疫组化显示合体滋养层巨细胞内有hCG。临床诊断为伴有合体滋养层巨细胞的Ia期无性细胞瘤。她的核型为46,XX，通过聚合酶链反应分析在肿瘤DNA中未检测到Y染色体性别决定区基因。
这种罕见的性腺肿瘤除了性腺母细胞瘤和单纯无性细胞瘤外，还可能起源于发育异常的性腺。它是在无可识别Y染色体成分的单纯性腺发育不全中肿瘤发生的一个例子。
