The Impact of Genetics on Sarcoma Diagnosis: An Evolving Science

Barr, Frederic G.; Zhang, Paul J.

doi:10.1158/1078-0432.ccr-06-1321

Cited by 21 publications

(16 citation statements)

References 18 publications

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“…Indeed, it is now known that these same fusions may be seen in a wholly dissimilar soft tissue neoplasm: angiomatoid (malignant) fibrous histiocytoma 58 59. We share the viewpoint advanced by Barr and Zhang in a recent editorial,60 who suggested that ‘…these differing phenotypes are not due to the fusion subtypes but rather to the cell types in which the fusion is expressed.’ Barr and Zhang go on to hypothesise the existence of three distinct cell types in which EWS–ATF1 and EWS–CREB1 may occur: a cell fully capable of melanocytic differentiation, giving rise to soft tissue CCS; a cell capable of S100 protein expression only, giving rise to CCSLGT; and a cell incapable of any melanocytic differentiation, giving rise to angiomatoid (malignant) fibrous histiocytoma 60. Although further study will be necessary to fully validate this hypothesis, this seems to us to best explain the dissimilar clinicopathological features of CCS and CCSLGT, which are tumours that should continue to be regarded as distinct entities.…”

Section: Osteoclast-rich Tumour Of the Gastrointestinal Tract With Fementioning

confidence: 66%

Clear cell sarcoma of tendons and aponeuroses, and osteoclast-rich tumour of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts: a review and update

2010

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Clear cell sarcoma (CCS) is a rare, distinctive soft tissue neoplasm, typically occurring in the distal extremities of young adult patients. Although CCS shows melanocytic differentiation, it is now clear that it is clinicopathologically and genetically distinct from conventional malignant melanoma. The 'osteoclast-rich tumour of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts' is an extraordinarily rare gastrointestinal neoplasm that shares some features of CCS, but differs from it in other ways. The historical, histopathological, ultrastructural, immunohistochemical and genetic aspects of these two tumours are reviewed in this article.

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Section: Osteoclast-rich Tumour Of the Gastrointestinal Tract With Fementioning

confidence: 66%

Clear cell sarcoma of tendons and aponeuroses, and osteoclast-rich tumour of the gastrointestinal tract with features resembling clear cell sarcoma of soft parts: a review and update

2010

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“…It is not yet known how these gene fusions lead to tumorigenesis, although contributing factors might include the cell type in which the fusion is expressed, as well as the specific genetic breakpoints and epigenetic events. 39 While it remains to be seen whether EWSR1-rearranged neoplasms will be classifiable into specific clinical and histologic groups, Antonescu et al 32 EWSR1-POU5F1, which appears to be the most frequently characterized gene fusion to date, 32 has been documented in only 5 myoepithelial neoplasms, occurring expression is tightly regulated; a critical amount is required to sustain the self renewal of undifferentiated embryonic stem cells, while upregulation or downregulation induces divergent developmental programs. 40,41 In mature adult tissues, POU5F1 expression is restricted to germ cells and Oct3/4 is frequently used as a marker of germ cell neoplasia, 42,43 but it is usually negative in myoepithelial tumors bearing the EWSR1-POU5F1 fusion.…”

Section: Molecular Genetic and Cytogenetic Findingsmentioning

confidence: 99%

Myoepithelial Tumor of Soft Tissue

Thway

Fisher

2014

Advances in Anatomic Pathology

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Myoepithelial neoplasms represent a heterogeneous group of tumors of which classification is incomplete and evolving. Those of the soft tissues often form genetically distinct subgroups that differ from those arising within salivary glands. Soft-tissue myoepithelial tumors (including mixed tumors that show true glandular or ductal differentiation) exhibit a spectrum of different morphologic patterns, making them difficult to distinguish from a variety of other neoplasms. They have been increasingly shown to harbor genetic fusions involving EWSR1 and partner genes that are not seen in the well-characterized tumor classes involving EWSR1 translocations. We review the spectrum of soft-tissue myoepithelial tumors, discussing recent immunohistochemical and genetic findings and the differential diagnosis.

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“…2.13). 43,45 Congenital fibrosarcoma and mesoblastic nephroma were thought to be unrelated tumors until cytogenetic analysis revealed a common aberration, hence the t(12;15)(p13;q25) translocation with subjacent ETV6-NTRK3 fusion gene, indicating that they are simply the same tumoral entity that develops in different locations. EWSR1 gene is also involved in chromosomal translocations arising in several other tumoral entities such as the intraabdominal desmoplastic small round-cell tumor (DSRCT), myxoid chondrosarcoma, and clear cell sarcoma.…”

Section: Sarcomas With Single Karyotypic Abnormalitiesmentioning

confidence: 99%