Journal
HUMAN PATHOLOGY
Volume 81, Issue -, Pages 281-290Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.humpath.2018.03.020
Keywords
EWSR1; NFATC2; Ewing sarcoma; Myoepithelial; Soft tissue; Bone
Categories
Funding
- NCI NIH HHS [K08 CA218691] Funding Source: Medline
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Mesenchymal 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 re-arrangements involving EWSRI 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 epithelial membrane antigen, 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 clinicopathological characteristics of EWSR1-NFATC2 gene fusion-associated neoplasms that distinguish them from Ewing sarcoma. (C) 2018 Elsevier Inc. All rights reserved.
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