美国外科病理学杂志|一种好发于青年人并与EWSR1/FUS-ATF1融合基因相关的恶性间皮瘤新亚型

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  摘要
  恶性间皮瘤(Malignant mesothelioma,MM)是一种少见的侵袭性肿瘤,常与石棉暴露相关,细胞遗传学上显示复杂性异常,包括22号染色体缺失等。2例60岁以上患有腹腔MM的患者报告显示,14q32上有涉及EWSR1和YY1基因的融合基因。EWSR1基因重排在MM中的发生频率及其相应伴侣基因的情况尚不清楚。我们最近遇到2例显示有EWSR1-ATF1融合基因的MM,因此想进一步研究这种遗传学异常在MM中的发生情况及相关的临床病理学特征。因这2例具有EWSR1-ATF1融合基因的腹腔MM均发生于青年人,我们从病例库内搜集患者年龄在40岁以下的胸膜和腹膜MM进行相关性研究。所有病例均采用EWSR1、FUS和ATF1基因探针行荧光原位杂交检测。当可行时,对BAP1进行免疫组化标记。该组病例共有25例,包括13例胸膜间皮瘤和12例腹膜间皮瘤,患者年龄均在40岁以下,中位年龄为31岁(年龄范围7~40岁)。除前述2例外,另有2例发生在胸膜和腹膜的间皮瘤分别显示有EWSR1-ATF1和FUS-ATF1融合基因,故总的融合基因阳性病例数为4例(16%,25例中有4例)。具有融合基因的病例在镜下显示典型的上皮样形态,瘤细胞表达细胞角蛋白和WT1,不表达S-100蛋白。BAP1在融合基因阳性的病例中均无表达缺失(100%,3例全部),在融合基因阴性的80%(15例中的12例)病例中无表达缺失。我们的研究结果扩展了具有EWSR1/FUS-ATF1融合基因的瘤谱,即新增了一种上皮样MM的新亚型。这种上皮样MM的新亚型除具有EWSR1/FUS-ATF融合基因外,以好发于青年人、无石棉暴露史和BAP1表达无缺失为特点。
来源:Am J Surg Pathol 2017;41:980–988
美国外科病理学杂志中文版2018年第一期摘要No.2
(刘绮颖 翻译;王坚 审校)
  The American Journal of Surgical Pathology中文版声明:
  2017 American Journal of Surgical Pathology and 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.
  Although advertising material is expected to conform to ethical (medical) standards,inclusion in this publication does not constitute a guarantee or endorsement of the quality or value of such product or of the claims made of it by its manufacturer.

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