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What is new in epithelioid soft tissue tumors?

  • Abbas AgaimyEmail author
Review Article

Abstract

Epithelioid cell features mimicking carcinomas characterize a variety of histogenetically, phenotypically, and molecularly distinct subsets of mesenchymal neoplasms. In a pathogenetic sense, epithelioid soft tissue tumors basically fall into three main genetic categories: (1) switch/sucrose non-fermenting (SWI/SNF) complex-deficient tumors (with epithelioid sarcoma as their prototype); (2) epithelioid neoplasms driven by specific rare gene fusions (such as sclerosing epithelioid fibrosarcoma with EWSR1 fusions and GLI1-related malignant epithelioid soft tissue neoplasms); and (3) a heterogeneous group encompassing epithelioid variants of diverse other entities. Notably, lesions in the first and third groups may display variable, occasionally prominent, rhabdoid cell morphology, thus further complicating their differential diagnosis. This review summarizes the main clinicopathological, phenotypic, and genotypic features of these diseases and discusses their pertinent differential diagnostic considerations.

Keywords

Epithelioid sarcoma Rhabdoid SMARCB1 SWI/SNF complex Sclerosing epithelioid fibrosarcoma GLI1 amplification GLI1 translocation KMT2A-YAP1 fusions NUT malignancies 

Notes

Compliance with ethical standards

Conflict of interest

The author declares that he has no conflict of interest.

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© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Institute of PathologyFriedrich-Alexander-University Erlangen-Nürnberg, University HospitalErlangenGermany

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