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

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  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
  The American Journal of Surgical Pathology中文版声明:
  ©2018 Wolters Kluwer Health
  The material is published by Wolters Kluwer Health with the permission of American Journal of Surgical Pathology.No part of this publication may be reproduced in any form,stored in a retrieval system or transmitted in any form,by any means,without prior written permission from Wolters Kluwer Health.Opinions expressed by the authors and advertisers are not necessarily those of the American Journal of Surgical Pathology, its affiliates,or of the Publisher.The American Journal of Surgical Pathology,its affiliates,and the Publisher disclaim any liability to any party for the accuracy,completeness,efficacy,or availability of the material contained in this publication (including drug dosages) or for any damages arising out of the use or non-use of any of the material contained in this publication.
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