Desmoplastic Small Round Cell Tumor in a Young Adult: A Case Report Highlighting Diagnostic Challenges and Treatment Approaches

Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive soft tissue sarcoma that predominantly affects young adults. We present the case of a 25-year-old African American male with a recent diagnosis of advanced DSRCT. The patient initially had a prolonged period of nonspecific abdominal symptoms for over a year before he was diagnosed. The patient presented with abdominal pain, abdominal bloating, ascites, constipation, and back pain. Upon admission, imaging studies revealed extensive peritoneal carcinomatosis, a large pelvic mass, and metastatic spread to the lung and lymph nodes. The diagnosis was confirmed through retroperitoneal lymph node biopsy and immunohistochemistry. The specimen showed a characteristic immunophenotype which was CD56 positive and contained the dot-like desmin staining. The Ki67 proliferation rate was greater than 90% indicating that the tumor was highly aggressive. Treatment was initiated using a multimodal approach, which included intensive chemotherapy. The patient was placed on a regimen alternating the combination of vincristine, doxorubicin, and cyclophosphamide for one week and ifosfamide and etoposide for the next. This case spotlights the challenges in early diagnosis of DSRCT and highlights the importance of increased suspicion in young adults who present with vague abdominal complaints. It also discusses the complexity and challenges of managing this rare aggressive malignancy. This case report also addresses the necessity for advanced research into targeted therapies and optimized strategies in the treatment to help improve the survival rates and quality of life for patients with DSRCT.