伴BCOR-CCNB3基因融合的原发性肾脏肉瘤-关于显示肾透明细胞肉瘤存在组织学重叠的2例病例报道,提示肾脏和软组织BCOR相关肉瘤的深层联系
  ——本文经《美国外科病理学杂志》授权发布,其他媒体转载或引用须经《美国外科病理学杂志》同意,否则追究法律责任。

  我们报道了2例伴有BCOR-CCNB3基因融合的原发性肾脏肉瘤,最近在骨和软组织的未分化圆形细胞肉瘤中也检出了BCOR-CCNB3基因融合。患者分别为11岁和12岁男性儿童,肿瘤都由于自身肾小管受压、扩张而呈囊性。2例肿瘤病灶都由多形性的温和梭形细胞构成,核染色质细腻,分布在黏液样的间质中,被分支状的毛细血管结构分隔。2例肿瘤均表现出梭形肿瘤细胞阳性,而毛细血管阴性的BCOR、 CyclinD1、TLE1和SATB2的免疫原性。其中1例表现为广泛囊性,并具有类似囊性肾瘤的寡细胞区域;该例患者3年后出现腹腔内复发,表现为实性富于细胞的梭形细胞肉瘤。我们将这些肾肿瘤的形态学特征和免疫表型与包括肾透明细胞肉瘤(clear cell sarcoma of the kidney, CCSK)、婴幼儿未分化圆细胞软组织肉瘤/发生于婴幼儿的原始黏液样间质肿瘤,以及伴BCOR-CCNB3基因融合的骨/软组织肉瘤,以及原发性肾滑膜肉瘤进行了比较。我们的研究结果表明,BCOR-CCNB3基因融合的肾肉瘤与CCSK具有组织学重叠。这些结果符合一类"BCOR突变家族",这类肾脏和肾外肿瘤包括CCSK、婴幼儿未分化圆细胞软组织肉瘤/发生于婴幼儿的原始黏液样间质肿瘤(通常有BCOR内串联重复突变)以及伴BCOR-CCNB3基因融合的骨/软组织肉瘤,以上肿瘤均由BCOR的过表达所驱动,并具有重叠的(但不完全相同)临床病理学特征。
Am J Surg Pathol 2017;41:1702-1712
  美国外科病理学杂志中文版2018年第二期摘要No.8
李新强 翻译 邱雪杉 审校
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