Paratesticular desmoplastic small round cell tumors: A case report and review of the literature

Sedig, Laura; Geiger, James D.; Mody, Rajen; Jasty-Rao, Rama

doi:10.1002/pbc.26631

Cited by 18 publications

(21 citation statements)

References 24 publications

(66 reference statements)

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“…DSRCTs are less frequently reported in other locations such as the pleura (31), lung (49), parotid gland (26), kidney (12), pancreas (43), paratesticular region (3,44) or bone and soft tissues of the extremities (1,3,55). Seven intracranial DSRCT cases with confirmation of EWSR1-WT1 fusion have been reported previously (3,9,40,50,52).…”

Section: Introductionmentioning

confidence: 99%

Clinicopathologic and molecular features of intracranial desmoplastic small round cell tumors

et al. 2019

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Desmoplastic small round cell tumors (DSRCTs) are highly aggressive sarcomas that most commonly occur intra‐abdominally, and are defined by EWSR1‐WT1 gene fusion. Intracranial DSRCTs are exceptionally rare with only seven previously reported fusion‐positive cases. Herein, we evaluate the clinical, morphologic, immunohistochemical and molecular features of five additional examples. All patients were male (age range 6–25 years; median 11 years), with four tumors located supratentorially and one within the posterior fossa. The histologic features were highly variable including small cell, embryonal, clear cell, rhabdoid, anaplastic and glioma‐like appearances. A prominent desmoplastic stroma was seen in only two cases. The mitotic index ranged from <1 to 12/10 HPF (median 5). While all tumors showed strong desmin positivity, epithelial markers such as EMA, CAM 5.2 and other keratins were strongly positive in only one, focally positive in two and negative in two cases. EWSR1‐WT1 gene fusion was present in all cases, with accompanying mutations in the TERT promoter or STAG2 gene in individual cases. Given the significant histologic diversity, in the absence of genetic evaluation these cases could easily be misinterpreted as other entities. Desmin immunostaining is a useful initial screening method for consideration of a DSRCT diagnosis, prompting confirmatory molecular testing. Demonstrating the presence of an EWSR1‐WT1 fusion provides a definitive diagnosis of DSRCT. Genome‐wide methylation profiles of intracranial DSRCTs matched those of extracranial DSRCTs. Thus, despite the occasionally unusual histologic features and immunoprofile, intracranial DSRCTs likely represent a similar, if not the same, entity as their soft tissue counterpart based on the shared fusion and methylation profiles.

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Section: Introductionmentioning

confidence: 99%

Clinicopathologic and molecular features of intracranial desmoplastic small round cell tumors

et al. 2019

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“…There is no consensus in the literature regarding the treatment of patients with DSRCT in the paratesticular or testicular regions due to the small number of cases. In non-metastatic cases the initial treatment is radical orchiectomy 3,4,12,[25][26][27][28] , but in patients with disseminated tumors we cannot say that primarytumor-surgery improves survival. The administration of chemotherapy seems to be consensual due to the potentially aggressive behavior of the tumor.…”

Section: Discussionmentioning

confidence: 99%

“…This tumor presents with a polyphenotypic differentiation profile, showing muscular, neural and epithelial markers and carries the recurrent chromosomal translocation t(11;22)(p13;q12) 1,2 . Abdomen/pelvis are the major sites of growth and the prognosis is poor, but data from literature shows that patients with paratesticular DSRCT have better outcomes [2][3][4] . We present the fifth case of primary DSRCT of the testis described in literature and discuss these locations as a prognostic factor.…”

Section: Introductionmentioning

confidence: 99%

A testicular and paratesticular localization of Desmoplastic Small Round Cell Tumor: Is it a good prognostic factor?

Romagnol¹,

Alves²,

Oliveira³

et al. 2020

Preprint

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“…DSRCT preferentially involves the abdominal and pelvic cavities. DSRCT in the pleura, lung, eye, ear, and testis has been reported in only a few cases (<5%) [3][4][5][6][7], but it is not consistently associated with any speci c organ. DSRCT has no speci c clinical symptoms.…”

Section: Introductionmentioning

confidence: 99%

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

Zhou

et al. 2021

Preprint

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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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Paratesticular desmoplastic small round cell tumors: A case report and review of the literature

Cited by 18 publications

References 24 publications

Clinicopathologic and molecular features of intracranial desmoplastic small round cell tumors

Clinicopathologic and molecular features of intracranial desmoplastic small round cell tumors

A testicular and paratesticular localization of Desmoplastic Small Round Cell Tumor: Is it a good prognostic factor?

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

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