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
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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