Primary desmoplastic small round cell tumor of the submandibular gland: a case report and literature review

Background Desmoplastic small round cell tumor (DSRCT) is a sporadic, highly malignant tumor with a poor prognosis. The abdomen and pelvis have been reported as the primary localization sites. However, to the best of our knowledge, there are few reports on primary DSRCT in the submandibular gland. Case presentation We report a case of a 26-year-old Chinese man with a mass in the right submandibular gland. Imaging studies showed a hypoechoic mass in the right submandibular region. Intraoperative pathology revealed that the tumor tissue was composed of small round tumor cells and a dense desmoplastic stroma. On immunostaining, the tumor cells showed markers of epithelial, mesenchymal, myogenic, and neural differentiation. The EWSR1 gene rearrangement was detected by fluorescence in situ hybridization. Based on the overall morphological features and immunohistochemical findings, a final diagnosis of DSRCT was made. The patient was treated with comprehensive anti-tumor therapy mainly based on radiotherapy and chemotherapy. Conclusions DSRCT is an uncommon malignant neoplasm with rare submandibular gland involvement. In this report, we have described a case of DSRCT in the submandibular gland and reviewed the literature on DSRCT over the past 5 years. Considering the importance of differential diagnosis between DSRCT, especially with rare extra-peritoneal involvement, and small round blue cell tumors, a full recognition of the clinicopathological features will help to better diagnose this neoplasm.

Immunotherapy and Radioimmunotherapy for Desmoplastic Small Round Cell Tumor

Desmoplastic small round cell tumor (DRSCT) is a highly aggressive primitive sarcoma that primarily affects adolescent and young adult males. The 5-year survival rate is 15-30% and few curative treatment options exist. Although there is no standard treatment for DSRCT, patients are most often treated with a combination of aggressive chemotherapy, radiation, and surgery. Targeted therapy inhibitors of PDGFA and IGF-1R, which are almost uniformly overexpressed in DSRCT, have largely failed in clinical trials. As in cancer in general, interest in immunotherapy to treat DSRCT has increased in recent years. To that end, several types of immunotherapy are now being tested clinically, including monoclonal antibodies, radionuclide-conjugated antibodies, chimeric antigen receptor T cells, checkpoint inhibitors, and bispecific antibodies (BsAbs). These types of therapies may be particularly useful in DSRCT, which is frequently characterized by widespread intraperitoneal implants, which are difficult to completely remove surgically and are the frequent cause of relapse. Successful treatment with immunotherapy or radioimmunotherapy following debulking surgery could eradiate these micrometasteses and prevent relapse. Although there has been limited success to date for immunotherapy in pediatric solid tumors, the significant improvements in survival seen in the treatment of other pediatric solid tumors, such as metastatic neuroblastoma and its CNS spread, suggest a potential of immunotherapy and specifically compartmental immunotherapy in DSRCT.

A rare cause of bilateral pleural effusion – desmoplastic small round cell tumor

Desmoplastic small round cell tumor (DSRCT) is a rare, extremely aggressive and malignant tumor predominantly affects young adolescent males and typically presents as a large intra-abdominal mass. However, tumor arising from other body sites are also reported in the literature. Histology and immunohistochemistry play an important role in the diagnosis and differentiating this rare tumor from other round cell tumors. A multidisciplinary approach consisting of a combination of surgery, chemotherapy and radiation therapy is the treatment of choice as there is no standard therapy. We report a case of DSRCT of pleura presenting as bilateral pleural effusion in a young adolescent male who was treated with both surgery and chemotherapy. However patient succumbed to death after one year of diagnosis.

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

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 Desmoplastic Small Round Cell Tumor: Current Treatment Options and Perspectives

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.

Prognostic Role of Ultrasound Imaging in Desmoplastic Small Round Cell Tumor: A Retrospective Study and Literature Review

Background: Desmoplastic small round cell tumor (DSRCT) mostly arose in the abdominopelvic cavity is an aggressive sarcoma with poor prognosis. The purpose of this study is to analyze ultrasonographic performance in prediction of prognosis of DSRCT.Method: Between March 1999 and October 2019, a total of 27 patients with pathologically confirmed DSRCT in our hospital were conducted. Clinical and ultrasonographic characterizations, including age, sex, symptoms, tumor size, number, location, shape, margin, echogenicity, homogeneity, vascularity, and metastases were recorded and analyzed with overall survival (OS) by using univariate analysis.Result: Ultrasonographic performance of DSRCT were irregular (74%), posterior echo enhancement (63%), calcification (51.9%), and liquefaction (55.6%) in tumors companied with ascites (63%), hydronephrosis (59%) and metastases (63%). The median OS was 22 months (range 7–36 months) and 5-year OS rate was 19.6%. Using univariate analysis, a higher hazard ratio (HR) of mortality was associated with liquefaction (HR: 3.09, 95% CI:1.23-7.76, p=0.016) and bone metastasis (HR: 2.95, 95%CI: 1.16-7.49, p=0.023). According to a risk staging system developed by selected predictors (low = neither liquefaction nor bone involvement; moderate = either liquefaction or bone involvement; high = both liquefaction and bone involvement), 40%, 10%, and 0 of 3-year survival were found in the low, moderate, and high risk patients, respectively.Conclusion: Ultrasound imaging is effective to evaluate prognosis of DSRCT. Findings of liquefaction and bone involvement in the ultrasonography may predict a poor prognosis of DSRCT patients.