Desmoplastic small round cell tumor of the submandibular gland—a rare but distinctive primary salivary gland neoplasm

Desmoplastic small round cell tumor (DSRCT) is a rare and aggressively malignant tumor mostly occurring in the abdominal and pelvic cavity of young patients. However, few cases had been reported concerning DSRCT occurring in the head and neck region. We presented a rare case of DSRCT of the right submandibular in a 25-year-old man. MRI revealed a 3 × 2-cm solid nodule located in the right submandibular, and physical examination showed no other occupying lesion elsewhere. Histologically, the tumor was composed of various-sized small round cell nests, embedded in an abundant desmoplastic stroma. Immunohistochemically, the tumor cells were typically positive for epithelial (CK and EMA), mesenchymal (vimentin and desmin), and neuroendocrine (CD56, NSE, Syn, and CgA) markers, but negative for WT1. Fluorescence in situ hybridization revealed the presence of a break apart involving the Ewing sarcoma (EWS) gene. The patient received chemotherapy and radiotherapy and relapsed after 19 months of follow-up. DSRCT of the submandibular gland is rare, and the diagnosis of this tumor in an uncommon location relies on the histomorphology, immunophenotype, and EWS gene translocation detection. Differential diagnosis including primary salivary gland tumors and the other small round cell tumors needs to be excluded.

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Desmoplastic Small Round Cell Tumor of the Submandibular Gland: A Case Report and Literature Review

10.21203/rs.3.rs-64376/v1 ◽

2021 ◽

Author(s):

Qingjiao Li ◽

Xiaolu Yuan

Keyword(s):

Submandibular Gland ◽

Young Patients ◽

Neck Region ◽

Cell Tumor ◽

Pelvic Cavity ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

The Right

Abstract BackgroundDesmoplastic small round cell tumor (DSRCT) was a rare and aggressive malignant tumor mostly occurring in the abdominal and pelvic cavity of young patients. However, few cases had been reported concerning DSRCT located in the head and neck region. Case presentationA 25-year-old man was referred to our hospital due to the enlargement of the right submandibular mass. Magnetic resonance imaging revealed a 3 cm×2 cm solid nodule located in the right submandibular, and physical examination showed no other occupying lesion elsewhere. Histologically, the tumor was composed of various-sized small round cell nests, embedded in an abundant desmoplastic stroma. Immunohistochemically, the tumor cells were typically positive for epithelial (CK and EMA), mesenchymal (Vimentin and Desmin), and neuroendocrine marker (CD56, NSE, Syn and CgA), but negative for WT-1. Fluorescence in situ hybridization (FISH) revealed the presence of a break-apart involving Ewing sarcoma region 1 (EWSR1) gene. This tumor was finally diagnosed as DSRCT in the right submandibular gland. The patient received chemotherapy and radiotherapy, and showed recurrence after 17 months of follow-up.ConclusionsDSRCT of the submandibular gland is rare, the diagnosis of this tumor in uncommon location relies on the histomorphology, immunophenotype and EWSR1 gene detection. Differential diagnosis including primary salivary gland tumors and the other small round cell tumors needs to be excluded.

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Primary Desmoplastic Small Round Cell Tumor of the Submandibular Gland: A Case Report and Literature Review

10.21203/rs.3.rs-646068/v1 ◽

2021 ◽

Author(s):

jiayu zhou ◽

Qingling Li ◽

baihua luo ◽

xiaodan fu ◽

chunlin ou ◽

...

Keyword(s):

Tumor Cells ◽

Submandibular Gland ◽

Tumor Therapy ◽

Final Diagnosis ◽

Cell Tumor ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

The Right

Abstract 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 have reported a case of a 26-year-old Chinese man who presented with a mass in the right submandible. Imaging studies showed a hypoechoic mass in the right mandibular 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 a very uncommon disease in which submandibular gland involvement is rare. Considering DSRCT in the differential diagnosis of small round blue cell tumors, even in extraperitoneal locations, is beneficial for a precise diagnosis. The purpose of this report was to describe a cases of DSRCT of submandibular gland and review the literature on the other published cases of DSRCT over the past five years. Full recognition of the clinicopathological features will help to better diagnose this disease.

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

Diagnostic Pathology ◽

10.1186/s13000-021-01183-3 ◽

2022 ◽

Vol 17 (1) ◽

Author(s):

Jiayu Zhou ◽

Qingling Li ◽

Baihua Luo ◽

Xiaodan Fu ◽

Chunlin Ou ◽

...

Keyword(s):

Tumor Cells ◽

Submandibular Gland ◽

Tumor Therapy ◽

Cell Tumor ◽

Round Cell ◽

Submandibular Region ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

The Right

Abstract 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.

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Desmoplastic small round cell tumor showing solid proliferation with limited desmoplasia and confusing immunohistochemical findings: an autopsy report

Medical Molecular Morphology ◽

10.1007/s00795-019-00242-5 ◽

2020 ◽

Vol 53 (3) ◽

pp. 177-182

Author(s):

Atsushi Kihara ◽

Kazuya Takahashi ◽

Ayataka Ishikawa ◽

Yusuke Amano ◽

Daisuke Matsubara ◽

...

Keyword(s):

Cell Tumor ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

Autopsy Report

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FDG PET/CT imaging of desmoplastic small round cell tumor: findings at staging, during treatment and at follow-up

Pediatric Radiology ◽

10.1007/s00247-015-3315-y ◽

2015 ◽

Vol 45 (9) ◽

pp. 1308-1315 ◽

Cited By ~ 15

Author(s):

Austin Ostermeier ◽

M. Beth McCarville ◽

Fariba Navid ◽

Scott E. Snyder ◽

Barry L. Shulkin

Keyword(s):

Fdg Pet ◽

Ct Imaging ◽

Cell Tumor ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

Pet Ct ◽

Fdg Pet Ct

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The Role and Clinical Effectiveness of Multiline Chemotherapy in Advanced Desmoplastic Small Round Cell Tumor

Clinical Medicine Insights Oncology ◽

10.1177/1179554920987107 ◽

2021 ◽

Vol 15 ◽

pp. 117955492098710

Author(s):

Hyehyun Jeong ◽

Yong Sang Hong ◽

Young-Hoon Kim ◽

Chan Wook Kim ◽

Si Yeol Song ◽

...

Keyword(s):

Medical Center ◽

Complete Resection ◽

Cell Tumor ◽

Line Treatment ◽

Round Cell ◽

First Line ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

First Line Treatment

Background: A multimodal approach is the standard treatment for desmoplastic small round cell tumor (DSRCT); however, many patients are diagnosed with inoperable disease, which leaves chemotherapy as the only treatment option. There are limited data on the effectiveness of palliative chemotherapy, especially when used after first-line treatment. Here, we evaluated the clinical outcomes of patients with DSRCT treated with multiple lines of chemotherapy. Methods: We reviewed medical records of 14 patients with pathologically confirmed DSRCT at Asan Medical Center between 2004 and 2018. Results: The median age at diagnosis was 25, with males comprising 92.9% of patients. All patients had inoperable disease at presentation and received chemotherapy as the initial treatment. Four patients (28.6%) were treated with surgery, and complete resection was achieved in 1 patient. Median overall survival (OS) was 23.9 months, and 1-, 2-, and 3-year survival rates were 92.9%, 48.6%, and 19.5%, respectively. In patients receiving first- (N = 14), second- (N = 10), and third-line (N = 8) chemotherapy, median time-to-progression was 9.9, 3.5, and 2.5 months, respectively, and the disease control rates were 100%, 88.9%, and 75.0%, respectively. Factors associated with longer OS in the univariable analysis were ⩽2 metastatic sites at presentation (27.0 vs 14.7 months; P = .024) and surgery with intended complete resection (43.5 vs 20.1 months; P = .027). Conclusions: Although advanced DSRCT may initially respond to chemotherapy after first-line treatment, the response becomes less durable as the disease progresses. Individualized treatment decisions focused on palliation should be made.

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