Intra-Abdominal Desmoplastic Small Round Cell Tumor: Current Treatment Options and Perspectives

Abstract

Intra-abdominal desmoplastic small round cell tumor (IDSRCT) is a rare and highly malignant soft tissue neoplasm, which is characterized by rapid progression and poor prognosis. The mechanism underlying the development of this neoplasm remains elusive, but all cases are characterized by the chromosomal translocation t (11;22) (p13; q12), which results in a formation of EWSR1-WT1 gene fusion. The diagnosis of IDSRCT is often made with core-needle tissue biopsy specimens or laparoscopy or laparotomy. Immunohistochemical analyses have shown the co-expression of epithelial, neuronal, myogenic, and mesenchymal differentiation markers. FISH or reverse transcription polymerase chain reaction detecting EWS-WT1 fusion can be performed to assist in molecular confirmation. There is no standard of care for patients with IDSRCT currently, and majority of newly diagnosed patients received the aggressive therapy, which includes >90% resection of surgical debulking, high-dose alkylator-based chemotherapy, and radiotherapy. More recently, targeted therapy has been increasingly administered to recurrent IDSRCT patients and has been associated with improved survival in clinical conditions. Immunotherapy as a possible therapeutic strategy is being explored in patients with IDSRCT. In this review, we summarize currently available knowledge regarding the epidemiology, potential mechanisms, clinical manifestations, diagnosis, treatment, and prognosis of IDSRCT to assist oncologists in comprehensively recognizing and accurately treating this malignancy.

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

“…6 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.…”

“…Desmoplastic small round cell tumor is an extremely rare, aggressive mesenchymal tumor first described by Gerald et al in 1898. 1,2 DSRCT is histologically distinguished by solid clusters of undifferentiated small round cells admixed in the dense desmoplastic stroma, and they most commonly manifest as multiple masses in the abdominopelvic cavity with no apparent origin, growing on the peritoneal surface of the serosal lining. [1][2][3][4] With a male-to-female ratio of 4:1 and a peak incidence of 0.74 cases per million, it primarily affects children and young adolescent populations.…”

Long‐term survivors with desmoplastic small round cell tumor (DSRCT): Results from a retrospective single‐institution case series analysis

“…In the subgroup of 7/21 R0/R1 patients who received WAP-RT, m-EFS and m-OS (95% CI) were 27 (17-37) months and not reached, respectively, while in 14/21 R0/R1 patients who did not have WAP-RT, m-EFS and m-OS (95% CI) were 16 (9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23) and 43 (29-56) months, respectively (Figure 1C). In the subgroup of 7/21 R0/R1 patients who received MC (5/7, treated also with WAP-RT), m-EFS and m-OS (95% CI) were 25 (20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30) months and not reached, respectively, while in 14/21 R0/R1 patients who did not have MC, m-EFS and m-OS (95% CI) were 19 (10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28) and 43 (34-52) months, respectively (Figure…”

The contribution of Juan Rosai to the pathology of soft tissue tumors

“…Improved survival is obtained through high-dose chemotherapy and extensive debulking surgery. Nonetheless, despite multimodal treatment, with a 15% 5-year overall survival rate DSRCT remains an aggressive malignancy 16 .…”