A Rare and Aggressive Abdominopelvic Tumor: A Case of Desmoplastic Small Round Cell Tumor in a Young Male

Abstract

Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive mesenchymal tumor primarily affecting young adults, commonly originating in the abdomen and pelvic region. Here, we present the case of a 21-year-old male referred to our facility due to abnormal kidney function tests and a detected abdominal mass. The patient’s laboratory results did not reveal any findings suggestive of a specific disease. The patient had experienced back pain for a month, which was managed initially with analgesics. Upon admission, hypertension was noted, and investigations revealed elevated urea, creatinine, uric acid, and lactate dehydrogenase levels. Abdominal ultrasound disclosed a hypoechoic lesion in the bladder pelvis, further confirmed by computed tomography (CT) scans, which showed lung and abdominal metastases. Positron emission tomography/CT scan highlighted hypermetabolic lymph nodes and skeletal lesions. Biopsy confirmed DSRCT with a Ki-67 proliferation index of 15-20%. The patient commenced VAC-IE chemotherapy. Key aspects of interest include the young age, the rapid metastatic spread, and the unexpected diagnosis. This case underscores the diagnostic challenges and aggressive nature of DSRCT, necessitating comprehensive management strategies. Our purpose is to describe the challenges and experiences in the diagnosis of DSRCT.