Malignant Mixed Germ Cell Tumor in a Patient with Swyer Syndrome: A Case Report

Abstract

Mixed germ cell tumors are extremely rare tumors, usually malignant with a poor prognosis and made up of at least two different germ cell tumors. These tumors occur most often in the gonads but may also occur at other sites in body. In this case, a 24-year female presented to SMGSH, GMC Jammu with an abdominal lump associated with pain and primary amenorrhea. On examination, a firm mass reaching upto epigastrium was present. Upon investigation, all the tumor markers were raised. Her radiological evaluation showed a complex solid-cystic adnexal mass suggestive of neoplastic etiology. Simultaneously, patient was also evaluated for primary amenorrhea and upon karyotyping, she had an XY chromosome suggestive of Swyer syndrome. Patient underwent laparotomy with bilateral salpingo-gonadectomy and pelvic lymphadenectomy with preservation of the uterus. Histopathology confirmed mass to be a malignant mixed germ cell tumor with elements of teratoma, yolk sac tumor, and embryonal carcinoma.

Keywords

• Swyer Syndrome
• SRY gene
• Malignant mixed germ cell tumor