美国外科病理学杂志 | 卵巢中/低分化Sertoli-Leydig细胞肿瘤恒定出现DICER1基因突变

免疫组化抗体神器

好评必备! 免费下载

  ——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。
 
  卵巢Sertoli-Leydig细胞肿瘤(ovarian sertoli-leydig cell tumors,SLCTs)是罕见的卵巢性索 - 间质肿瘤,常伴有DICER1基因的胚系及体细胞突变,其突变率在不同的研究中差异较大(0%~62.5%)。目前的世界卫生组织(world health organization,WHO)分类将SLCTs组织学类型分为高分化、中分化及低分化3种,仅在中/低分化者中可出现异源性成分和/或网状结构。本文作者研究了38例初始诊断为SLCTs的卵巢肿瘤中DICER1的突变率,目的是进一步揭示DICER1基因突变是否与SLCTs中特定的形态学特征有关。所有病例由病理学专家在分子检测结果不知情的情况下重新阅片,34例被诊断为SLCTs(包括中分化22例、低分化8例及高分化4例),而剩余4例没有被诊断为SLCTs。分子检测结果发现,34例被诊断为SLCTs中的30例(88%)具有DICER1基因的1个或多个位点突变,其中所有30例(100%)中分化或低分化SLCTs发现有DICER1基因突变,但所有4例高分化SLCTs没有发现有意义的DICER1突变。我们的研究是目前SLCTs中DICER1突变率最高的报道,且在中/低分化SLCTs中100%出现。这表明,DICER1突变可能是SLCTs的一个特定特征。虽然病例数量有限,但高分化SLCTs似乎与DICER1突变无关。中、低分化SLCTs成分常常共存并形成谱系,而高分化SLCTs通常以单一形态出现。这从根本上表明,它们代表2种独立的互不相关的肿瘤类型,且发病机制不同。因此,我们建议,所有卵巢SLCTs患者都要进行生殖细胞DICER1突变检测。
  来源:Am J Surg Pathol 2017;41:1267–1274
  美国外科病理学杂志中文版2017年第一期摘要No.4
  (倪浩 翻译;郭凌川 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

  【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】
责任编辑: spring
0 0 0

扫一扫下载91360客户端