Oligometastatic Renal Ewing Sarcoma With FUS::ERG Fusion: A Case Report And Literature Review.

Sage open pathology Pub Date : 2025-05-15 eCollection Date: 2025-01-01 DOI:10.1177/30502098251336541
Dan T Nguyen, Trent Davidson, Fiona Maclean, Pranav Dorwal, Yeh Chen Lee, Min Ru Qiu
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Abstract

Ewing sarcoma (ES) is an undifferentiated round cell sarcoma arising in skeletal and extraskeletal locations usually diagnosed in the second decade of life. It is typically characterized by a monomorphic round blue cell morphology, positive membranous CD99 immunohistochemical staining, and EWSR1 gene fusion with a partner gene from the ETS family. Less frequently, other genes from the FET family of genes substitute for EWSR1. We report a case of oligometastatic Ewing sarcoma with FUS::ERG fusion with an unusual primary location in an older patient. This case highlights the application of ancillary tests, especially next generation sequencing, as an adjunct to the morphological assessment of undifferentiated round cell tumours. We also discuss potential diagnostic pitfalls and literature review of Ewing sarcomas with FUS::ERG fusion.

少转移性肾尤文氏肉瘤合并FUS: ERG融合1例并文献复习。
尤文氏肉瘤(ES)是一种未分化的圆形细胞肉瘤,发生在骨骼和骨骼外的位置,通常在生命的第二个十年被诊断出来。其典型特征为单形圆形蓝色细胞形态,膜性CD99免疫组化染色阳性,EWSR1基因与ETS家族的伴侣基因融合。来自FET基因家族的其他基因替代EWSR1的情况较少。我们报告一例低转移性尤文氏肉瘤合并FUS: ERG融合,原发位置不寻常。本病例强调了辅助测试的应用,特别是下一代测序,作为未分化圆形细胞肿瘤形态学评估的辅助手段。我们还讨论了尤文氏肉瘤合并FUS: ERG融合的潜在诊断缺陷和文献综述。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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