...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Diagnostic pathology >Alveolar soft part sarcoma of lung: report of a unique case with emphasis on diagnostic utility of molecular genetic analysis for TFE3 gene rearrangement and immunohistochemistry for TFE3 antigen expression
【24h】

Alveolar soft part sarcoma of lung: report of a unique case with emphasis on diagnostic utility of molecular genetic analysis for TFE3 gene rearrangement and immunohistochemistry for TFE3 antigen expression

机译：肺泡软组织肉瘤：一例特殊病例的报告，着重于分子遗传学分析对TFE3基因重排和免疫组织化学对TFE3抗原表达的诊断作用

获取原文
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Alveolar soft part sarcoma (ASPS) is a rare, malignant mesenchymal tumor of distinctive clinical, morphologic, ultrastructural, and cytogenetical characteristics. It typically arises in the extremities of adolescents and young adults, but has also been documented in a number of unusual sites, thus causing diagnostic confusions both clinically and morphologically. The molecular signature of ASPS is a specific der(17)t(X;17)(p11.2;q25) translocation, which results in the fusion of TFE3 transcription factor gene at Xp11.2 with ASPL at 17q25. Recent studies have shown that the ASPL-TFE3 fusion transcript can be identified by reverse-transcriptase polymerase chain reaction analysis and TFE3 gene rearragement can be detected using a dual-color, break apart fluorescence in situ hybridization assay in paraffin-embedded tissue, and the resultant fusion protein can be detected immunohistochemically with antibody directed to the carboxy terminal portion of TFE3. Herein, we report a unique case of ASPS presenting as an asymptomatic mass in the lung of a 48 year-old woman without evidence of a primary soft tissue tumor elsewhere at the time of initial diagnosis. To the best of our knowledge, this is the third report of such cases appearing in the English language literature to date. We emphasize the differential diagnoses engendered by ASPS including a series of tumors involving the lung that have nested and alveolar growth patterns, and both clear and eosinophilic cytoplasm, and demonstrate the utility of molecular genetic analysis for TFE3 rearrangement and immunohistochemistry for TFE3 antigen expression for arriving at accurate diagnosis.
机译：肺泡软部分肉瘤（ASPS）是一种罕见的恶性间质瘤，具有独特的临床，形态，超微结构和细胞遗传学特征。它通常发生在青少年和年轻人的四肢，但也已在许多不寻常的部位进行了记录，从而在临床和形态上引起诊断混乱。 ASPS的分子标记是特定的der（17）t（X; 17）（p11.2; q25）易位，这导致Xp11.2处的TFE3转录因子基因与17q25处的ASPL融合。最近的研究表明，可以通过逆转录酶聚合酶链反应分析来鉴定ASPL-TFE3融合转录本，并且可以在石蜡包埋的组织中使用双色，分开的荧光原位杂交测定法来检测TFE3基因重排。可以用针对TFE3羧基末端部分的抗体免疫组化检测所得的融合蛋白。本文中，我们报告了一个独特的ASPS病例，该病例在48岁女性的肺部表现为无症状性肿块，在初诊时没有其他原发性软组织肿瘤的迹象。据我们所知，这是迄今为止英语文献中出现的此类案例的第三次报告。我们强调ASPS引起的鉴别诊断，包括一系列涉及肺的巢状和肺泡生长模式的肿瘤，以及透明和嗜酸性的细胞质，并证明分子遗传学分析可用于TFE3重排和免疫组织化学检测TFE3抗原的表达准确诊断。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号