Presentation of a rare, highly aggressive peritoneal disease: desmoplastic small round cell tumor and its therapeutic options

Summary Background Desmoplastic small round cell tumor is a rare highly aggressive peritoneal disease (sarcoma) with mortality rates up to 70% in the first 3 years after diagnosis. It mainly affects young men. Patients clinically complain about diffuse abdominal pain. Methods This case report describes the clinical course of a 69-year-old man who presented with recurrent abdominal pain. Physical examination, laboratory testing, imaging, and gastroscopy were performed. Intra-abdominal peritoneal biopsies were taken during diagnostic laparoscopy. Results Physical examination was unremarkable. Laboratory results showed elevated white blood cells, C‑reactive protein, and negative tumor markers. Computed tomography and positron emission tomography scan revealed extensive peritoneal metastases with diffuse intra-abdominal signal intensities and ascites. Gastroscopy was unremarkable, whereas diagnostic laparoscopy confirmed imaging results with a peritoneal cancer index of 39. Extensive immunohistochemical and consecutive molecular investigations led to the diagnosis of an intraperitoneal desmoplastic small round cell tumor. Conclusion Our case report demonstrates a very rare cause of recurrent abdominal pain. Desmoplastic small round cell tumor is a rare and highly aggressive undifferentiated sarcoma, which mainly affects young men. Treatment options include chemotherapy, radiotherapy, cytoreductive surgery, and/or hyperthermic intraperitoneal chemotherapy. Standardized treatment protocols are still lacking because only a few cases have been described so far. Differential diagnoses include all malignancies with peritoneal masses.