我们推测，原有的多形性腺瘤（pleomorphic adenoma，PA）与上皮-肌上皮癌（epithelial-myoepithelial carcinomas，EMCA）的组织学分级和分子遗传学改变之间存在某种联系。研究人员从预先存在的PA形态学和分子遗传学证据方面对EMCA（n=39）进行了分析[应用荧光原位杂交（fluorescence in situ hybridization,FISH）检测PLAG1、HMGA2分子改变，应用新一代测序技术（next-generation sequencing，NGS）检测FGFR-PLAG1基因融合情况]。进一步应用NGS对其中23例EMCA的50个肿瘤相关基因突变和拷贝数进行检测。基于PA的形态学特征和分子改变，EMCA被归为以下4类：（a）具有预先存在的PA形态学特征，但PLAG1和HMGA2无异常改变（12/39，31%）的EMCA；（B）癌组织存在PLAG1改变（9/39，23%）；（c）癌组织存在HMGA2改变(10/39，26%)；(d）不存在PA形态学特征和分子改变的原发EMCA(8/39，21%)。12例高级别EMCA(12/39,31%)分布于上述所有类型中。EMCA患者的中位无病生存期是80个月（95%置信区间，77～84个月）。无病生存期和其他临床病理参数在上述4类EMCA间无显著差异。HRAS突变更多见于PLAG1和HMGA2无异常改变的EMCA(7/9 vs.1/14，P<0.001)病例。其他的分子遗传学改变[TP53（n=2）,FBXW7(N=1),SMARCB1缺失(n=1)]仅见于PLAG1和HMGA2无异常改变的高级别EMCA病例。综上所述，我们认为多数EMCA起源于原有的PA(31/39,80%),EMCA的分子遗传学改变在是否伴有预先存在的PA病例之间不同，并和其自身的细胞遗传学特征相关。不伴PLAG1和HMGA2异常改变的EMCA出现高级别转化与TP53、FBXW7突变或者SMARCB1缺失相关。
Am J Surg Pathol 2018;42:18-27
美国外科病理学杂志中文版2018年第二期摘要No.3
美国外科病理学杂志中文版2018年第二期摘要No.3
(马怡晖 翻译 石怀银 审校）
The American Journal of Surgical Pathology中文版声明：
2018 Wolters Kluwer Health
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.
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.
【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】
苏公网安备 32011402010112号