Abstract
BackgroundDesmoplastic 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 presentationWe 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.ConclusionsDSRCT 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.
Highlights
Desmoplastic small round cell tumor (DSRCT) is a sporadic, highly malignant tumor with a poor prognosis
We have described a case of DSRCT in the submandibular gland and reviewed the literature on DSRCT over the past 5 years
We have described and summarized the clinicopathological and cytological features of DSRCT, in addition to discussing its diagnosis and treatment based on the literature review
Summary
DSRCT is a poorly understood malignant tumor with characteristic morphology, immunophenotype, and cytological features. The EWSR1-WT1 fusion detection by reverse transcriptionpolymerase chain reaction is the gold standard for the diagnosis of DSRCT. When it is not feasible, as in our case, definitive diagnosis mainly depends on a comprehensive analysis of histological and immunohistochemical studies. The submandibular gland is an unusual site for DSRCT, suggesting that the tumor may not have a sitespecific predilection. Pathologists and clinicians have to be aware of its possible occurrence in extraperitoneal regions. To better diagnose this rare and intriguing disease, further studies are needed in future
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