Mesenchymal Tumors with EWSR1 Gene Rearrangements

Thway, Khin; Fisher, Cyril

doi:10.1016/j.path.2018.10.007

Cited by 62 publications

(74 citation statements)

References 220 publications

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“…These tumors are benign such as CM and rarely recur when incompletely resected [7,8] In the current study, we also reported a CSM case with dermis-located and well-cirumscribed tumor displays a showed pseudoepitheliomatous hyperplasia (Figure 1 Immunohistochemically, cellular neurothekoma exhibits no positivity for EMA or S100 [11]. [15]. Rearrangement of this gene has been detected nearly half of CM cases [16].…”

Section: Introductionsupporting

confidence: 55%

Cutaneous syncytial myoepithelioma: A potential pitfall in the differential diagnosis of superfi cial dermal tumors

Çomut¹,

Demirkan²

2019

J Surg Surgical Res

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In the spectrum of myoepithelial tumors of the skin, cutaneous myoepithelioma is composed solely of myoepithelial cells. Cutaneous syncytial myoepithelioma as a rare histological variant of cutaneous myoepithelioma has been fi rst described in the last decade. This tumor is benign and rarely shows recurrence when incompletely resected. In addition to its distinctive common histological and immunohistochemical features, cutaneous syncytial myoepithelioma shares the same changes for most cases in molecular testing (EWS RNA binding protein 1 gene rearrangement). The differential diagnosis of other superfi cial dermal tumors is one of the major diffi culties in the diagnosis of this tumor. In the current study, we present our fi ndings of a 56 year-old woman who was diagnosed as cutaneous syncytial myoepithelioma.

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Section: Introductionsupporting

confidence: 55%

Cutaneous syncytial myoepithelioma: A potential pitfall in the differential diagnosis of superfi cial dermal tumors

Çomut¹,

Demirkan²

2019

J Surg Surgical Res

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“…Studies of fusion genes in small round cell sarcomas have resulted in the discovery of new genetic abnormalities that help define distinct entities. The flag bearer of this group of tumors is Ewing sarcoma which harbors rearrangement of EWSR1 ; however, this genetic abnormality is also present in other tumor types including Ewing-like sarcoma defined by EWSR1 fusions with non-TET/ETS gene partners, myoepithelial carcinoma, extraskeletal myxoid chondrosarcoma, clear cell sarcoma, and desmoplastic small round cell tumor, amongst others (1,2). In this study we describe the features of tumors with EWSR1 or FUS - NFATc2 fusions.…”

Section: Discussionmentioning

confidence: 99%

“…Malignant small round cell tumors of bone encompass a heterogeneous group of neoplasms most commonly diagnosed in children and young adults. These neoplasms are highly aggressive and often associated with the development of disseminated disease (1,2). During the last two decades, specific molecular alterations identified in these neoplasms have allowed the creation of a new classification scheme that may bring therapeutic benefit.…”

Section: Introductionmentioning

confidence: 99%

“…Currently, the largest group of small round cell tumors of bone is Ewing sarcoma that is characterized by specific translocation fusion genes EWSR1/FUS-ETS . (1,3). Other tumors with similar but more variable morphology and behavior have been grouped in the so-called ‘Ewing-like’ tumors; they possess specific fusions such as CIC-DUX4, BCOR-CCNB3 , and EWSR1-NFATc2 (2,3,4).…”

Section: Introductionmentioning

confidence: 99%

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EWSR1/FUS-NFATc2 rearranged round cell sarcoma: clinicopathological series of 4 cases and literature review

et al. 2019

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Background: The classification of bone neoplasms composed of small round cells is experiencing a transformation after the discovery of various gene fusion rearrangements that determine diagnosis, behavior, and response to therapy. Aim: We present herein four new cases of small round cell tumor of the bone that harbor NFATc2 rearrangements involving either EWSR1 or FUS genes. Materials and methods: We studied the clinical presentation, pathologic features, genetics (FISH, targeted RNA sequencing) and outcome in these four patients. We also reviewed the literature describing similar cases. Results: All our patients were male. The median age at diagnosis was 33.5 years. All tumors presented in long bones of the extremities as a large destructive mass with a mean size of 12.5 cm. All cases were hypercellular with prominent collagenous stroma and consisted of small to medium size round cells arranged in cords, thin trabeculae, and pseudoacinar structures. Most cases showed focal or diffuse membrane staining for CD99; whereas S100, synaptophysin and chromogranin were negative. EMA showed cytoplasmic staining in one case. Genetic studies identified EWSR1-NFATc2 fusion in three cases, and FUS-NFATc2 fusion in one case. The patients were treated with chemotherapy using Ewing sarcoma regimens and surgical excision was performed on three patients; necrosis was minimal. Follow-up is limited; after a median follow-up of 8.7 months one patient developed local recurrence and metastases to the lungs. Conclusion: Poorly differentiated round cell sarcoma with EWSR1/FUS-NFATc2 fusions are uncommon. The tumors have consistent clinical findings, morphology, and immunoprofile that in combination are distinctive and differ from that of Ewing sarcoma. Importantly, these tumors do not respond to Ewing sarcoma chemotherapy regimens.

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“…To our knowledge, EWSR1-rearranged sarcomas have not been identified as members of the clinical spectrum of tumors that occur in DICER1 syndrome. EWSR1 is a member of the TET (TLS, EWSR1, TAFII68) family (Thway and Fisher 2019) and a gene commonly involved in translocation-associated sarcomas (Fisher 2014). EWSR1 rearrangements lead to formation of chimeric genes in which the EWSR1 amino-terminal transcriptional activation domain is fused to the carboxy-terminal DNS-binding domain of the partner gene, usually a transcription factor.…”

Section: Discussionmentioning

confidence: 99%

DICER1-associated metastatic abdominopelvic primitive neuroectodermal tumor with an EWSR1 rearrangement in a 16-yr-old female

Pancaldi

Peng

Rhee

et al. 2020

Cold Spring Harb Mol Case Stud

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We report a case of a DICER1-associated EWSR1-rearranged malignant primitive neuroectodermal tumor (PNET) arising in a patient with DICER1 tumor predisposition syndrome. A 16-yr-old female with a history of multinodular goiter presented with a widely metastatic abdominal small round blue cell tumor with neuroectodermal differentiation. EWSR1 gene rearrangement was identified in the tumor by fluorescence in situ hybridization (FISH). Genetic analysis revealed biallelic pathogenic DICER1 variation. The patient was treated with an aggressive course of chemotherapy, surgery, and radiation with complete pathologic response. We believe this case to represent a new expression of the DICER1 tumor predisposition syndrome, an entity caused by deleterious germline mutations in the DICER1 gene, encoding a ribonuclease active in the processing of miRNA. Patients with germline mutations in DICER1 develop a diverse group of benign and malignant tumors. Some of these tumors have been noted to have immature neuroepithelium as a component, including the ciliary body medulloepithelioma and the recently described DICER1-associated presacral malignant teratoid neoplasm. To our knowledge, abdominal sarcomas that resemble PNET histology with an EWSR1 rearrangement have not previously been described as a classical expression of the DICER1 syndrome phenotype.

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Mesenchymal Tumors with EWSR1 Gene Rearrangements

Cited by 62 publications

References 220 publications

Cutaneous syncytial myoepithelioma: A potential pitfall in the differential diagnosis of superfi cial dermal tumors

Cutaneous syncytial myoepithelioma: A potential pitfall in the differential diagnosis of superfi cial dermal tumors

EWSR1/FUS-NFATc2 rearranged round cell sarcoma: clinicopathological series of 4 cases and literature review

DICER1-associated metastatic abdominopelvic primitive neuroectodermal tumor with an EWSR1 rearrangement in a 16-yr-old female

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