具有EWSR1-PATZ1 基因融合的梭形和圆形细胞肉瘤 一种多向分化的肉瘤

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  圆形细胞肉瘤分类的演变是由其分子学研究进展驱动的。具有EWSR1-PATZ1基因融合阳性的梭形和圆形细胞肉瘤正是这样一种新的肿瘤实体。在此,我们报道2例EWSR1-PATZ1基因融合阳性的梭形和圆形细胞肉瘤,它们具有交叉的组织学特征和多向分化特点。患者分别为31岁和53岁女性,临床表现为腹腔内肿瘤。2例肿瘤均由圆形至梭形细胞组成,呈片状和巢状排列,细胞染色质均匀,核仁小而明显,细胞质中等量以及肿瘤细胞间有粗大纤维条带。在免疫组化方面,2例肿瘤均表达CD99、结蛋白、抗体myogenin、MyoD1、S100、Sox10、CD34和GFAP,而角蛋白则呈阴性表达。荧光原位杂交(FISH)检测显示,肿瘤的EWSR1基因位点发生重排。基于二代测序的RNA融合分析显示,2例肿瘤均有EWSR1-PATZ1基因融合。EWSR1-PATZ1基因融合阳性的梭形和圆形细胞肉瘤表现为丰富的肿瘤内纤维增生以及多向分化特征,因此需鉴别一系列其他肿瘤,包括促结缔组织增生性小圆形细胞肿瘤。这种梭形和圆形细胞肉瘤的准确分类以及它们与尤文肉瘤家族肿瘤的关系有待进一步明确。
Am J Surg Pathol 2019;43:220-228
美国外科病理学杂志中文版2019年第三期摘要NO.7
(张晓毅 翻译 樊祥山 审校)
 
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