摘要：未分化子宫肉瘤是1个排除性诊断，其可用的分子遗传学数据有限。近年来对具有不同基因型的高级别子宫内膜间质肉瘤的认识表明，一些曾经分类为未分化子宫肉瘤的肿瘤可能是被误诊的高级别子宫内膜间质肉瘤。我们收集2009~2017年被诊断为未分化子宫肉瘤的10例病例资料。我们使用BCOR、ZC3H7B、CCNB3、YWHAE、 NUTM2、JAZF1和BCORL1分离探针进行BCOR免疫组化和荧光原位杂交.(fluorescence in situ hybridization, FISH)。 将FISH检测中缺乏基因重排或与未知基因发生重排的肿瘤进行靶向RNA测序。形态学与FISH 及测序结果相关。8例肿瘤中，≥50%的肿瘤细胞中至强阳性表达BCOR，而另2例病例中仅有< 5%的肿瘤细胞弱表达或者不表达BCOR。FISH检测发现，3例形态学较一致的未分化子宫肉瘤具有互斥的ZC3H7B-BCOR融合和YWHAE-NUTM2融合; 2例多形性肿瘤具有YWHAE与未知伙伴基因的重排。我们对5例FISH阴性的均质性子宫未分化肉瘤进行了靶向RNA测序，发现其中4例具有BRD8-PHF1和YWHAE-NUTM2B融合及BCOR内部串联重复。具有YWHAE-NUTM2融合及BCOR基因异常的肿瘤表现为高级别内膜间质肉瘤的形态学特点。经FISH检测仅有YWHAE重排的肿瘤经测序没有发现有融合。大多数原来归类为未分化子宫肉瘤的肿瘤其实是误诊的高级别子宫内膜间质肉瘤。≥50%的肿瘤细胞表达BCOR提示我们可以通过分子生物学方法来确认肿瘤是否具有高级别子宫内膜间质肉瘤相关基因异常，从而对肿瘤进行分类。新的YWHAE重排或许能明确1种真正的未分化多形性肉瘤亚型。
关键词：子宫内膜间质肉瘤，未分化子宫肉瘤，未分化子宫内膜肉瘤，YWHAE， BCOR，PHF1
(Am J Surg Pathol 2019;43:662- -669)
美国外科病理学杂志中文版2019年第四期正文NO.3
（林 洁 翻译 钟定荣 审校）
美国外科病理学杂志中文版2019年第四期正文NO.3
（林 洁 翻译 钟定荣 审校）
The American Journal of Surgical Pathology 中文版版权说明：
©2019 Wolters Kluwer Health.
This material is from Wolters Kluwer Health, and authorize to 91360 Medical Group（Shen Zhen）Co.,Ltd. (91360 Pathologist group) and Shanghai EBM Info Tech Co., Ltd. (CME Window) freely distribute such material to medical professionals. No part of this material may be reproduced in any form, stored in a retrieval system or transmitted in any form, by any means.
Opinions expressed in this material are not necessarily those of Wolters Kluwer or associates. No responsibility is assumed by Wolters Kluwer or associates, for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material. Because of rapid advances in the medical sciences, in particular, independent verification of diagnoses and drug dosages should be made.
【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；所有文章仅供公益交流，不代表本站立场。欢迎提供素材、资料等，投稿邮箱： tougao@91360.com，一经采纳将给予稿费】
©2019 Wolters Kluwer Health.
This material is from Wolters Kluwer Health, and authorize to 91360 Medical Group（Shen Zhen）Co.,Ltd. (91360 Pathologist group) and Shanghai EBM Info Tech Co., Ltd. (CME Window) freely distribute such material to medical professionals. No part of this material may be reproduced in any form, stored in a retrieval system or transmitted in any form, by any means.
Opinions expressed in this material are not necessarily those of Wolters Kluwer or associates. No responsibility is assumed by Wolters Kluwer or associates, for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material. Because of rapid advances in the medical sciences, in particular, independent verification of diagnoses and drug dosages should be made.
【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；所有文章仅供公益交流，不代表本站立场。欢迎提供素材、资料等，投稿邮箱： tougao@91360.com，一经采纳将给予稿费】
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