Desmoplastic Small Round Cell Tumor: A Potpourri of Cases Highlighting Diagnostic and Therapeutic Challenges

Abstract

Desmoplastic small round cell tumour (DSRCT) is a rare with an incidence of 0.3-0.7 cases/million worldwide, aggressive neoplasm characterized by small round cells in a desmoplastic stroma, commonly linked to the EWSR1-WT1 gene fusion. This malignancy primarily affects children and young adults, with a higher incidence in males. DSRCT presents significant diagnostic and therapeutic challenges due to its rarity and poor prognosis, which includes a low 5-year survival rate of 15%–30%. This case series details three instances of DSRCT, each highlighting distinct diagnostic challenges and therapeutic approaches. The first case involved a young woman with bilateral lower limb edema and a confirmed diagnosis of high-grade rhabdomyosarcoma, leading to rapid deterioration and death shortly after diagnosis. The second case described a 62-year-old woman with a poorly differentiated tumour in the breast, necessitating aggressive neoadjuvant chemotherapy. The third case featured a 62-year-old man with a mediastinal mass causing airway obstruction, requiring urgent intervention and chemotherapy. DSRCT presents formidable challenges in oncology due to its aggressive nature and poor prognosis. Emphasizing early diagnosis and a multidisciplinary approach is critical to improving patient outcomes in this rare malignancy. Further research into novel therapeutic strategies is necessary.