Intraabdominal and ganglionic desmoplastic small round cell tumor: a case series

Abstract

Introduction Desmoplastic small round cell tumor is a rare malignancy with poor prognosis, affecting young male patients. It frequently presents as a large abdominal mass with widespread peritoneal involvement at diagnosis. In late stages, metastases may be present. Aim We retrospectively reviewed patient characteristics, presenting symptoms, tumor pathology, treatment, and outcome of four patients with desmoplastic small round cell tumor at our institution. Cases presentation The first three cases reported are 32-, 17-, and 30-year-old North African males with intraabdominal desmoplastic small round cell tumor treated by surgery, chemotherapy, and radiation therapy with different follow-ups. The final case is a 16-year-old North African male with ganglionic desmoplastic small round cell tumor but no evidence of a tissue mass. He underwent two lines of chemotherapy with no response. The patient was lost after 2 years of follow-up. In all cases, desmoplastic small round cell tumor was confirmed by presence of t(11,22) (p13,q12) translocation. Conclusion Treatment of desmoplastic small round cell tumor is based on multidisciplinary therapy. Despite high-dose chemotherapy, extensive surgical resection, and radiotherapy, desmoplastic small round cell tumor remains lethal.

Intra‐abdominal omental mass as a desmoplastic round cell tumor: A rare case report

“…Desmoplastic small round cell tumor is a rare high‐grade malignant tumor of mesenchymal cell origin 6,7 . As in our case, it is more commonly seen in the young male population, usually with an average age being 22 years old 8,9 . The long‐term prognosis remains poor.…”

“…6,7 As in our case, it is more commonly seen in the young male population, usually with an average age being 22 years old. 8,9 The long-term prognosis remains poor. This usually occurs in the abdominal cavity, known as the intra-abdominal desmoplastic small round cell tumor (IDSRCT).…”

“…Gerald and Rosai describe the majority of IDSRCT's genetic makeup as a chromosomal translocation t (11; 22) (p13; q12) that resulted from the fusion of the Ewing's sarcoma gene's (EWS) N‐ and C‐terminal domains with the Wilms tumor suppressor gene's (WT1), creating the EWSR1‐WT1 gene 2,3 . Pathogenesis of this soft tissue sarcoma involves chromosomal translocation t (11; 22) (p13; q12) leading to fusion of the EWS and WT1 genes 2,8 . The fusion results in Ewing sarcoma RNA‐binding protein‐1.…”

“…The disease can be controlled by combining high‐dose chemotherapy with extensive surgery and tumor debulking. Irradiating the entire abdomen may marginally increase long‐term survival 8 . The P6 protocol, also known as the VAC‐IE regimen, contains the greatest alkylating agents, was successful, according to a study by Jayakrishnan et al 9 .…”

Giant desmoplastic small round cell tumor of the abdomen: A case report

“…The mean age at diagnosis is 20.8 years, and it has a male-to-female ratio of 10:1, with no evidence of any ethnic predilection. The most common symptom of DSRCT is vague abdominal symptoms ( 3 ), and the more common is terminal disease on diagnosis with multiple intra-abdominal lesions ( 4 ). The current diagnostic gold standard for DSRCT includes histopathologic, immunohistochemical, and cytogenetic studies in order to confirm variable phenotypic expression and characteristic chromosomal translocation ( 5 ).…”