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.

A Case Report on Malignant Rhabdoid Round Cell Tumor in Pelvis

The malignant neoplasm is called as malignant rhabdoid tumor or renal tumor. The Malignant tumor had the highest rate of proliferation. Tiny, round, and generally undifferentiated cells make up malignant small round cell tumours. A round cell tumor is a group of malignant tumors composed of relatively small and undifferentiated cells with an increased nuclear - cytoplasmic ratio. Soft tissue malignant tumours of the abdomen and pelvis are a rare but serious kind of cancer. Examples of these tumours include Ewing's sarcoma, peripheral neuroectodermal tumour, rhabdomyosarcoma, synovial sarcoma, non-lymphoma, Hodgkin's retinoblastoma, neuroblastoma, and hepatoblastoma. Mast cell tumour, histiocytoma, lymphoma, plasmacytoma, and transmissible venereal tumours are some of the different types of round cell tumours. Melanomas are the cytologic "great impostor," as they might look on cytology as round cell tumours despite being classed as mesenchymal cancers. Rhabdoid tumours have long been thought to be extremely malignant and have a bad prognosis. Children with this form of tumour have a six to eleven-month median survival duration. They're also less common. In 5% of small round cell tumor patients, can be curable, and it is best achieved by combining systemic chemotherapy with thorough cytoreductive surgery. Here we report a 9-year-old female child who was diagnosed with a malignant rhabdoid round cell tumor in the pelvis. She has undergone excision of pelvic floor tumor andfurther managed with Chemotherapy.

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.

Ileocolic intussusception associated with a multicentric round cell tumor in a red-tailed boa constrictor (Boa constrictor constrictor)

A 5-year-old, female red-tailed boa constrictor ( Boa constrictor constrictor ) was presented with hyporexia, regurgitation and progressive focal distention of the caudal coelom since two months. During physical examination a firm, well-demarcated and movable intracoelomic mass was detected halfway down the caudal coelom but no other abnormalities were noticed. Ultrasonographic examination showed the mass to consist of an intestinal intussusception. A complete blood cell count and serum biochemistry blood test results revealed mild anemia and leukocytosis as well as hyperuricemia and hyperphosphatemia with inversion of the calcium/phospohorus ratio. Explorative coeliotomy was performed and revealed anterograde invagination of the ileum into the colon through the ileocolic junction. Although the intussusception was surgically repositioned, the snake died three weeks post-operatively despite showing a good general condition and defecation following assisted feeding. During necropsy, a thickened wall of the caudal segment of the ileum that was previously involved in the intussusception was observed as well as the presence of multifocal, white nodules throughout the parenchyma of the liver, spleen and kidneys. Histopathological examination demonstrated a malignant round cell tumor of the ileum with infiltration of neoplastic round cells in the liver, spleen and kidneys. Immunohistochemical staining (CD3, CD20, MAC387, S100 and NSE) could not confirm the cell origin of the round cell tumor. The present case highlights the need to include round cell tumors as a differential diagnosis in the development of ileocolic intussusception in red-tailed boa constrictors.

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.