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
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
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DOI：
10.1016/j.humpath.2018.03.020
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发表时间：
2018-11-01
期刊：
影响因子：
3.3
通讯作者：
Davis, Jessica L.
中科院分区：
文献类型：
--
作者：
Cohen, Jarish N.;Sabnis, Amit J.;Davis, Jessica L.
间充质圆细胞肿瘤是一组不同的肿瘤定义的原始，往往是高级别的细胞形态学。在这些肿瘤中检测到的最常见的分子改变是涉及EWSRI到许多融合伴侣之一的基因重排。罕见的EWSR 1-NFATC 2基因重排，对应于t（20;22）基因易位，在具有清晰圆形细胞形态和骨骼偏好的间质肿瘤中已有描述。我们目前的情况下，肿瘤窝藏EWSR 1-NFATC 2基因融合产生的皮下组织的一名年轻女子。肿瘤表现为上皮样细胞在丰富的粘液样和纤维基质中的索状和小梁状结构。细胞表现出强烈的免疫反应NKX2.2，可变CD 99，角蛋白和上皮膜抗原，但S100和肌上皮标志物呈阴性。重要的是，与以前报道的病例相似，临床过程比尤文肉瘤更缓慢。该病例突出了EWSR 1-NFATC 2基因融合相关肿瘤的独特临床病理学特征，这些特征可将其与尤文肉瘤区分开来。(C)2018爱思唯尔公司All rights reserved.
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.