Mixed Gonadal Germ Cell Tumor Composed of a Spermatocytic Tumor-Like Component and Germinoma Arising in Gonadoblastoma in a Phenotypic Woman With a 46, XX Peripheral Karyotype: Report of the First Case

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We report a unique case of gonadal mixed germ cell tumor (GCT) composed of a predominantly spermatocytic tumor (ST)-like component and a minor component of germinoma arising in gonadoblastoma in a phenotypic woman with a 46, XX peripheral karotype. The patient was a 24-year-old woman (gravida 2, para 1) found to have a 7 cm pelvic mass during routine obstetric ultrasound examination at 20 weeks gestational age. She underwent a left salpingo-gonadectomy at gestational age 23 and 2/7 weeks. She recovered well and delivered a healthy baby at full term. The resected gonadal tumor measured 7.5 cm and microscopically was composed of 3 morphologically distinct components: gonadoblastoma (1%), germinoma (1%) and a ST-like component (98%). The ST-like component was composed of 3 populations of tumor cells: small cells, intermediate and large sized cells, similar to testicular ST. Scattered binucleated and multinucleated cells were present. Immunohistochemically the ST-like component was positive for pan-GCT markers SALL4 and LIN28 but with weaker staining than the germinoma. It was negative for OCT4 and TCL1. Only rare tumor cells were positive for SOX17. In contrast, the germinoma cells were diffusely and strongly positive for SALL4, LIN28, OCT4, SOX17, and TCL1. CD117 was positive in both the germinoma and ST-like component but with fewer tumor cells positive in the latter. Flurorescence in situ hybridization study demonstrated isochromosome 12p in the germinoma component but not in the gonadoblastoma and ST-like component. This patient did not receive further chemoradiation therapy after the surgery. She has been free of disease for 10 years and 1 month since her surgery. To our knowledge, this is the first case report of a ST-like GCT in a phenotypic female.

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