Intra-abdominal desmoplastic small round cell tumor: The European pediatric Soft tissue sarcoma Study Group (EpSSG) experience.

Berlanga P, Orbach D, Schoot RA, Casanova M, Alaggio R, Corradini N, Brennan B, Ramirez-Villar GL, Hjalgrim L, Chisholm J, Bisogno G, Coppadoro B, Safwat A, Merks JHM, Guillen Burrieza G, van Noesel MM, Ferrari A.Pediatr Blood Cancer 2023 May 26;e30447. doi: 10.1002/pbc.30447.

Desmoplastic small round cell tumor (DSRCT) is an ultra-rare and aggressive mesenchymal tumor characterized by the specific chromosomal translocation t(11:22)(p13;q12), which involves the EWS-WT1 fusion gene. It generally occurs in the peritoneal cavity of adolescent and young adult males, with advanced stage including large masses, multiple nodules in the peritoneal cavity, and extensive peritoneal seeding. Patients with DSRCT generally have a very poor prognosis, despite various intensive multi-modal treatments.

This study describes the clinical findings of a series of 32 patients aged less than 21 years (median age 13.7 years) with a diagnosis of DSRCT arising in the abdomen, prospectively enrolled in EpSSG protocols: the BERNIE study, the EpSSG MTS 2008 study, and the EpSSG NRSTS 2005 study. All trials recommended a multimodal approach including intensive multidrug chemotherapy and loco-regional treatment with surgery and/or radiotherapy whenever possible.

Three patients had localized tumors, seven had regionally disseminated disease, and 22 extraperitoneal metastases. All but one patient received multidrug chemotherapy and 11 had maintenance chemotherapy. Loco-regional treatment consisted of surgery only in seven cases, surgery plus adjuvant radiotherapy in 10, and radiotherapy only in six. Among the 17 cases who had radiotherapy, six had irradiation of the primary site, 10 had whole abdominopelvic radiotherapy plus boost to macroscopic residual disease, and one had irradiation to lung metastases only.

With a median follow-up of 76 months (range: 18–124 months), 5-year event-free and overall survivals were 19.7% and 21.0%, respectively. Event-free survival was significantly worse for patients who did not receive loco-regional treatment (p-value .007).

The study confirmed that the outcome of patients with DSRCT remains dismal and did not improve over recent years despite an intensive multimodal treatment approach. The management of young patients with DSRCT remains a major challenge. Different novel approaches, driven by preclinical models, are urgently needed, as well as wider collaborative research and cooperation on clinical trial design.