Desmoplastic small round cell tumor: evaluation of reverse transcription-polymerase chain reaction and fluorescence in situ hybridization as ancillary molecular diagnostic techniques

Mohamed, Mustafa; González, David; Fritchie, Karen; Swansbury, John; Wren, Dörte; Benson, Charlotte; Jones, Robin L.; Fisher, Cyril; Thway, Khin

doi:10.1007/s00428-017-2207-y

Cited by 28 publications

(16 citation statements)

References 44 publications

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“…However, the fusion assay did not detect EWSR1-WT1 fusion, a near universal finding in DSRCTs. 18 Furthermore, in contrast to DSRCTs, these tumors expressed myoD1 and myogenin and did not express epithelial markers. DSRCTs, occasionally express CD99, although the reactivity is cytoplasmic and not membranous, as noted in the current two cases.…”

Section: Discussionmentioning

confidence: 89%

“…31,32 Notably DSRCT, characterized by EWSR1-WT1 fusion, also shows polyphenotypic differentiation with expression of keratins, EMA, vimentin, desmin, CD57 and S100. 18 Although the precise mechanism for this phenomenon is unknown, the chimeric EWSR1-WT1 protein transcript activates neural reprogramming factor ASCL1, accounting for neural differentiation. 33 Activation of transcriptional factors along multiple lineages might thus be responsible for polyphenotypic differentiation in DSRCT and, by extension, the EWSR1-PATZ1 fusion positive sarcoma.…”

Section: -26mentioning

confidence: 99%

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Spindle and Round Cell Sarcoma With EWSR1-PATZ1 Gene Fusion

Chougule¹,

Taylor²,

Nardi³

et al. 2019

American Journal of Surgical Pathology

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The evolving classification of round cell sarcomas is driven by molecular alterations. EWSR1-PATZ1 fusion positive spindle and round cell sarcoma is one such new tumor entity. Herein, we report two EWSR1-PATZ1 fusion positive spindle and round cell sarcomas with overlapping histological features and polyphenotypic differentiation. The intraabdominal tumors affected female patients, 31 and 53-year-old. Both tumors showed sheets and nests of round to spindle cells, fine chromatin, tiny conspicuous nucleoli, moderate cytoplasm and thick bands of intratumoral fibrosis. On immunohistochemistry, both tumors showed positivity for CD99, desmin, myogenin, myoD1, S100, Sox10, CD34 and GFAP and were negative for keratin. Fluorescence insitu hybridization revealed rearrangement at EWSR1 locus. Next generation sequencing based RNA fusion assay revealed EWSR1-PATZ1 fusion in both cases. EWSR1-PATZ1 fusion positive spindle and round cell sarcomas show abundant intratumoral fibrosis and polyphenotypic differentiation, thus mimicking a range of tumors including desmoplastic small round cell tumor. The precise classification of this spindle and round cell sarcoma and its relationship to the Ewing sarcoma family of tumors remains to be determined.

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Section: Discussionmentioning

confidence: 89%

Section: -26mentioning

confidence: 99%

Spindle and Round Cell Sarcoma With EWSR1-PATZ1 Gene Fusion

Chougule¹,

Taylor²,

Nardi³

et al. 2019

American Journal of Surgical Pathology

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“…DSRCT is distinguished by the t (11;22) (p13; q12) chromosomal translocation involving a fusion between the transcriptional activating domain of EWSR1 and the WT1 gene [19][20][21]. Studies have also suggested that the EWSR1-WT1 fusion protein can induce the expression of PDGFA.…”

Section: Discussionmentioning

confidence: 99%

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

Yuan²

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 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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“…The multi-fold genome coverage allows the MinION nanopore sequencing to reach over 99% accuracy of the post-data analysis, which is sufficient for accurate detection of known viruses ( Wang et al, 2015 ). This technology was successfully used for detection of multiple arboviruses including DENV, ZIKV, and Venezuelan Equine Encephalitis Virus ( Mohamed et al, 2017 ; Quick et al, 2017 ; Russell et al, 2018 ).…”

Section: Challenges Of Zikv Diagnostics and Treatmentmentioning

confidence: 99%

History of ZIKV Infections in India and Management of Disease Outbreaks

et al. 2018

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Zika virus (ZIKV) is an emerging arbovirus infection endemic in multiple countries spread from Asia, Africa to the Americas and Europe. Previously known to cause rare and fairly benign human infections, ZIKV has become a major international public health emergency after being linked to unexpected neurological complications, that includes fetal brain damage/death and microcephaly in babies born to infected mothers and Guillain-Barre syndrome (GBS) in adults. It appears that a single genetic mutation in the ZIKV genome, likely acquired during explosive ZIKV outbreak in French Polynesia (2013), made virus causing mild disease to target fetus brain. The Aedes mosquitoes are found to be the main carrier of ZIKV, passing the virus to humans. Originally isolated from patients in Africa in 1954 (African lineage), virus disseminated to Southeast Asia (Asian lineage), establishing new endemic foci, including one in India. Numerous cases of ZIKV infection have been reported in several locations in India and neighboring countries like Pakistan and Bangladesh since mid of the last century, suggesting that the virus reached this part of Asia soon after it was first discovered in Uganda in 1947. Although, the exact means by which ZIKV was introduced to India remains unknown, it appears that the ZIKV strain circulating in India possibly belongs to the “Asian lineage,” which has not yet been associated with microcephaly and other neurological disorders. However, there still exists a threat that the contemporary ZIKV virulent strain from South America, carrying a mutation can return to Asia, posing a potential crisis to newborns and adult patients. Currently there is no specific vaccine or antiviral medication to combat ZIKV infection, thus, vector control and continuous monitoring of potential ZIKV exposure is essential to prevent the devastating consequences similar to the ones experienced in Brazil. However, the major obstacle faced by Indian healthcare agencies is that most cases of ZIKV infection have been reported in rural areas that lack access to rapid diagnosis of infection. In this review, we attempt to present a comprehensive analysis of what is currently known about the ZIKV infection in India and the neighboring countries.

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Desmoplastic small round cell tumor: evaluation of reverse transcription-polymerase chain reaction and fluorescence in situ hybridization as ancillary molecular diagnostic techniques

Cited by 28 publications

References 44 publications

Spindle and Round Cell Sarcoma With EWSR1-PATZ1 Gene Fusion

Spindle and Round Cell Sarcoma With EWSR1-PATZ1 Gene Fusion

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

History of ZIKV Infections in India and Management of Disease Outbreaks

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