EWSR1-NFATC2基因异位相关肉瘤:一种罕见的侵袭性原发骨或软组织肿瘤的临床病理特征研究

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  摘要:近年来,发现一种新型伴有EWSR1-NFATC2基因易位的小圆细胞肉瘤,其形态学及免疫表型与尤文氏肉瘤(Ewing sarcoma,ES)、肌上皮肿瘤和骨外黏液样软骨肉瘤类似。目前为止,未见关于描述EWSR1-NFATC2易位肉瘤的详细的临床病理和免疫组化特征的文献报道。本文采用逆转录聚合酶链反应和荧光原位杂交技术进行融合基因的转录扩增,确诊了6例EWSR1-NFATC2基因易位的相关肉瘤。患者为5名成年男性和1名成年女性。其中,原发于桡骨3例,原发于软组织3例。典型的组织学特征为,呈相互吻合条索状排列的单一形态的小圆细胞或上皮样细胞,基质富于粘液透明样或胶原化。2例出现以小圆细胞弥漫片状分布的实性区改变。所有病例的CD99和NKX2.2免疫组化染色均为阳性,部分病例可见EMA阳性、细胞角蛋白呈点灶状阳性,WT-1和SMA灶性阳性。除1例外,其余病例分化较差,且对ES特异的新辅助放化疗均不敏感。4例出现局部或远处复发。EWSR1-NFATC2肉瘤是一种新型易位相关肉瘤,原发于骨或软组织,好发于成年男性的长骨,通常具有独特的组织病理学特征。通常采用EWSR1分离荧光原位杂交检测融合基因扩增,是一种便捷可靠的诊断方法。EWSR1-NFATC2肉瘤具有潜在的局部和远处复发风险及组织学进展,并对尤文氏肉瘤特异性经典化疗方案不敏感。
  
  关键词:EWSR1-NFATC2 易位相关肉瘤,尤文样肉瘤,未分化圆形细胞肉瘤,肌上皮瘤/肌上皮癌,骨外黏液样软骨肉瘤

(Am J Surg Pathol 2019;43:1112-1122)
美国外科病理学杂志中文版2020年第一期正文NO.4
( 娄蕾 翻译 李月红   审校)
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