Desmoplastic small round cell tumor of the ovary: A rare but devastating disease in young women
A 17-year-old female presented with several months of increased abdominal girth associated with pelvic pain and nausea. Ultrasound showed a 10 cm right adnexal mass and ascites. Serum tumor markers were drawn and showed normal AFP, beta-HCG and LDH. CA-125 was 35.9 U/mL, and her inhibin was elevated to 481 pg/mL. She underwent an exploratory laparotomy which found a 15 cm multicystic right ovarian mass with tumor implants on the left ovarian serosa, peritoneum, epiploica, liver, omentum and cul-de-sac. A right salpingo-oophorectomy, peritoneal stripping of the anterior cul-de-sac, appendectomy, and argon laser ablation of tumor nodules were performed. The patient was optimally debulked but visible sub-centimeter disease was present at the end of the procedure. Microscopy was consistent with DSRCT, and immunohistochemistry revealed tumor diffusely positive for keratin, desmin, p63, and focally positive for FLI-1. Stains were negative for S-100, WT-1, CD99, and inhibin. The cytogenetic studies were positive for the EWS-WT1 translocation. The patient is now status post 9 cycles of IE/VDC chemotherapy with interval debulking after seven cycles. She then received whole abdominal radiation with a pelvic boost. She is alive without disease at 11 months from her diagnosis.