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Τετάρτη 4 Απριλίου 2018

EWSR1-NFATC2 Gene Fusion in a Soft Tissue Tumor with Epithelioid Round Cell Morphology and Abundant Stroma: A Case Report and Review of the Literature

Publication date: Available online 4 April 2018
Source:Human Pathology
Author(s): Jarish N. Cohen, Amit J. Sabnis, Gregor Krings, Soo-Jin Cho, Andrew E. Horvai, Jessica L. Davis
SummaryMesenchymal round cell tumors are a diverse group of neoplasms defined by primitive, often high-grade cytomorphology. The most common molecular alterations detected in these tumors are gene rearrangements involving EWSR1 to one of many fusion partners. Rare EWSR1-NFATC2 gene rearrangements, corresponding to a t(20;22) gene translocation, have been described in mesenchymal tumors with clear round cell morphology and a predilection for the skeleton. We present a case of a tumor harboring the EWSR1-NFATC2 gene fusion arising in the subcutaneous tissue of a young woman. The tumor exhibited corded and trabecular architecture of epithelioid cells within abundant myxoid and fibrous stroma. The cells showed strong immunoreactivity for NKX2.2, variable CD99, keratin, and EMA, but were negative for S100 and myoepithelial markers. Importantly, similar to previously reported cases the clinical course was more indolent than that of Ewing sarcoma. This case highlights the distinctive clinicopathologic characteristics of EWSR1-NFATC2 gene fusion-associated neoplasms that distinguish them from Ewing sarcoma.



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