Intraabdominal and ganglionic desmoplastic small round cell tumor: a case series

Abstract

Desmoplastic small round cell tumor is a rare malignancy with poor prognosis, affecting young male patients. It frequently presents as a large abdominal mass with widespread peritoneal involvement at diagnosis. In late stages, metastases may be present. We retrospectively reviewed patient characteristics, presenting symptoms, tumor pathology, treatment, and outcome of four patients with desmoplastic small round cell tumor at our institution. The first three cases reported are 32-, 17-, and 30-year-old North African males with intraabdominal desmoplastic small round cell tumor treated by surgery, chemotherapy, and radiation therapy with different follow-ups. The final case is a 16-year-old North African male with ganglionic desmoplastic small round cell tumor but no evidence of a tissue mass. He underwent two lines of chemotherapy with no response. The patient was lost after 2 years of follow-up. In all cases, desmoplastic small round cell tumor was confirmed by presence of t(11,22) (p13,q12) translocation. Treatment of desmoplastic small round cell tumor is based on multidisciplinary therapy. Despite high-dose chemotherapy, extensive surgical resection, and radiotherapy, desmoplastic small round cell tumor remains lethal.