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

LW Lee *

Department of Surgery, Kulliyyah of Medicine, International Islamic University Malaysia, Jalan Sultan Ahmad Shah, 25200 Kuantan, Pahang, Malaysia and Hospital Pakar Sultanah Fatimah, Muar, Malaysia.

Ahmad Faidzal O

Department of Surgery, Kulliyyah of Medicine, International Islamic University Malaysia, Jalan Sultan Ahmad Shah, 25200 Kuantan, Pahang, Malaysia.

Nadia R

Hospital Pakar Sultanah Fatimah, Muar, Malaysia.

Nurul Hana H

Hospital Pakar Sultanah Fatimah, Muar, Malaysia.

*Author to whom correspondence should be addressed.


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.

Keywords: Desmoplastic Small Round Cell Tumor (DSRCT), desmoplastic stroma, malignancy, therapeutic challenges


How to Cite

Lee, LW, Ahmad Faidzal O, Nadia R, and Nurul Hana H. 2024. “Desmoplastic Small Round Cell Tumor: A Potpourri of Cases Highlighting Diagnostic and Therapeutic Challenges”. Asian Journal of Case Reports in Surgery 7 (2):541-48. https://journalajcrs.com/index.php/AJCRS/article/view/582.

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