Desmoplastic small round cell tumor of the ovary: A rare but devastating disease in young women
A 6-year-old female presented to a local hospital with intractable abdominal pain (previously diagnosed as constipation) that was associated with fever and tachycardia. A computed tomography (CT) showed multiple pelvic masses, enlarged para-aortic lymph nodes, and a liver hypodensity concerning for a neoplasm. The patient was transferred to a tertiary care center for further evaluation. Upon arrival, serum tumor markers, HCG and AFP, were normal (CA-125 not done), and she underwent a diagnostic laparoscopy which revealed bilaterally enlarged ovaries with several 1–3 cm masses in the cul-de-sac that were biopsied. Microscopy demonstrated islands of primitive small round blue cells in a fibroblastic stroma with abundant necrosis and scattered calcifications (). The tumor was mildly pleomorphic and composed of small cells with hyperchromatic nuclei, irregular nuclear contours and clear cytoplasm. Immunohistochemistry was strongly reactive for desmin, pan-cytokeratin, NSE, CD56, and EMA, and showed focal immunoreactivity for CD99, NB-84a, and bcl-2. The tumor cells were negative for FLI-1, S-100, myogenin, and LCA. Cytogenetic testing showed an Ewing sarcoma (EWS) gene disruption in the majority of her tumor cells (). The morphology, immunohistochemistry and cytogenetic findings were all consistent with the diagnosis of DSRCT.\nAfter surgery, further evaluation revealed bone marrow, liver, and retroperitoneal lymph node involvement; additionally a PET scan confirmed mediastinal, peri-pancreatic, mesenteric, and retroperitoneal spread. The patient's care was transferred to a regional center specializing in DSRCT where she received the P6 regimen: seven cycles of the sarcoma chemotherapy regimen IE/VDC (Ifosfamide, Etoposide, Vincristine, Adriamycin, and Cytoxan) chemotherapy. She progressed in 3 months with leptomeningeal metastases. After 3600 cGy of craniospinal radiation with a 540 cGy boost to the brain and TMZ-CPT-11 for 12 cycles, she was disease free. However, the patient recurred 11 months later and progressed through 4 months of cyclophosphamide, vinorelbine, and bevacizumab. She was placed on a phase I trial of IMC-A12 and temsirolimus without response. The patient expired 28 months after her initial diagnosis.