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

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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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 Mandible: A Case Report and Literature Review

10.21203/rs.3.rs-414294/v1 ◽

2021 ◽

Author(s):

jiayu zhou ◽

Qingling Li ◽

Baihua Luo ◽

Xiaodan Fu ◽

Chunlin Ou ◽

...

Keyword(s):

Tumor Cells ◽

Tumor Therapy ◽

Final Diagnosis ◽

Cell Tumor ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

Precise Diagnosis ◽

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 mandible.Case presentation: We have reported a case of a 26-year-old Chinese man who presented with a mass in the right mandible. 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 mandibular 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. Full recognition of the clinicopathological features will help to better diagnose this disease.

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

ORL ◽

10.1159/000517563 ◽

2021 ◽

pp. 1-6

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

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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Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): desmoplastic small round-cell tumor and its variants.

Journal of Clinical Oncology ◽

10.1200/jco.1998.16.9.3028 ◽

1998 ◽

Vol 16 (9) ◽

pp. 3028-3036 ◽

Cited By ~ 261

Author(s):

W L Gerald ◽

M Ladanyi ◽

E de Alava ◽

M Cuatrecasas ◽

B H Kushner ◽

...

Keyword(s):

Tumor Cells ◽

Abdominal Cavity ◽

Neuron Specific Enolase ◽

Chimeric Protein ◽

Cell Tumor ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

Translocation Breakpoints

PURPOSE Intense investigation has reshaped concepts about undifferentiated tumors occurring in young people (small round-cell tumors). Tumors associated with t(11;22)(p13;q12) and descriptively designated desmoplastic small round-cell tumor (DSRCT) are a distinctive, rare, poorly understood member of this family. We reviewed 109 cases of DSRCT to further characterize this entity better. METHODS Clinical information and histology were reviewed. Immunohistochemistry and immunoblotting were performed using standard techniques. Chimeric EWS-WT1 RNA and DNA were detected by polymerase chain reaction (PCR) and genomic translocation breakpoints mapped in a subset of cases. RESULTS There were 90 males and 19 females from 6 to 49 years of age (mean, 22 years). A total of 103 had tumor in the abdominal cavity, four in the thoracic region, one in the posterior cranial fossa, and one in the hand. Typical histologic and immunohistochemical features were usually evident in well-sampled tumors, but variations in cellularity, stromal components, cytology, architecture, and immunoreactivity occurred. Tumor cells were usually reactive with antibodies to keratin (67 of 78 cases, 86%), epithelial membrane antigen (50 of 54, 93%), vimentin (64 of 66, 97%), desmin (70 of 78, 90%), neuron-specific enolase (60 of 74, 81%), and the EWS-WT1 chimeric protein (25 of 27, 93%); typically nonreactive for muscle common actin (one of 58, 2%), myogenin (zero of eight, 0%), and chromogranin (one of 46, 2%); and variably reactive for MIC2 (nine of 47, 20%) and p53 (five of 17 with > 20% tumor cells reactive). Functional EWS-WT1 gene fusion was evident in 25 of 26 cases with genomic breakpoints in WT1 intron 7, and EWS introns 7, 8, and 9. Prognosis in general is poor, but tumors are responsive to aggressive therapy. CONCLUSION This large review identifies a greater degree of clinical, pathologic, and molecular variation than originally appreciated for tumors associated with t(11;22)(p13;q12). Translocation and functional fusion of the EWS and WT1 genes appears to be a consistent feature of this unique tumor.

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

Human Pathology ◽

10.1016/j.humpath.2009.08.015 ◽

2010 ◽

Vol 41 (3) ◽

pp. 438-442 ◽

Cited By ~ 20

Author(s):

Wei-Hua Yin ◽

Shuang-Ping Guo ◽

Hong-Yu Yang ◽

John K.C. Chan

Keyword(s):

Salivary Gland ◽

Submandibular Gland ◽

Cell Tumor ◽

Salivary Gland Neoplasm ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell

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Mechanism of action of trabectedin in desmoplastic small round cell tumor cells

BMC Cancer ◽

10.1186/s12885-017-3091-1 ◽

2017 ◽

Vol 17 (1) ◽

Cited By ~ 4

Author(s):

S. Uboldi ◽

I. Craparotta ◽

G. Colella ◽

E. Ronchetti ◽

L. Beltrame ◽

...

Keyword(s):

Tumor Cells ◽

Mechanism Of Action ◽

Cell Tumor ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell

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Desmoplastic Small Round Cell Tumor of Parotid Gland: A Rare Entity With Diagnostic Challenge

International Journal of Surgical Pathology ◽

10.1177/1066896920913109 ◽

2020 ◽

Vol 28 (7) ◽

pp. 782-786

Author(s):

Zhenjian Cai ◽

Lin Zhang ◽

Ron J. Karni ◽

Karan Saluja ◽

Jing Liu ◽

...

Keyword(s):

Parotid Gland ◽

Cell Carcinoma ◽

Tumor Cells ◽

Cell Tumor ◽

Rare Entity ◽

Round Cell ◽

Round Cell Tumor ◽

Small Round Cell Tumor ◽

Small Round Cell ◽

Mesenchymal Neoplasm

Desmoplastic small round cell tumor (DSRCT) is a rare malignant mesenchymal neoplasm that typically affects young patients and presents as large intraabdominal masses. We report a rare case of parotid gland DSRCT in a 38-year-old man. The tumor cells were large sized and form irregular nests embedded in abundant desmoplastic stroma. Immunohistochemically, the tumor cells were positive for cytokeratin, GATA3, p40, and p63. Working differential diagnosis included squamous cell carcinoma, myoepithelial carcinoma, hyalinizing clear cell carcinoma, NUT (nuclear protein of the testis) carcinoma, and adamantinoma-like Ewing sarcoma. The characteristic morphologic features and presence of EWSR1-WT1 gene fusion are diagnostic of DSRCT. Salivary gland DSRCT is an exceedingly rare entity, with only 6 cases reported in the literature.

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