失去了YAP1的C端表达作为一个辅助标记的转移性胸腺瘤:在检测YAP1::MAML2基因重排的潜在陷:MAML2
Xuan Wang1, Lei-Lei Liu1, Qing Li2
1Department of Pathology, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
Histopathology
|August 11, 2023
概括
甲基塑性胸腺瘤是一种罕见的瘤,由于YAP1::MAML2基因融合,导致YAP1的C端表达丧失. 这种损失是诊断转移性胸腺瘤的可靠标志物,使其与其他胸腺瘤区别开来.
科学领域:
- 在瘤学瘤学.
- 分子病理学分子病理学
- 遗传学 遗传学是一种遗传学.
背景情况:
- 甲基塑性胸腺瘤是一种罕见的胸腺瘤.
- 它的特征是Yes关联蛋白1 (YAP1) 和大脑像转录辅激剂2 (MAML2) 基因融合.
- 在YAP1重新排列的血管瘤,毛孔瘤和毛孔癌中观察到YAP1C终端表达的丧失.
研究的目的:
- 验证一种抗YAP1 C终端抗体作为用于转移性胸腺瘤诊断的辅助免疫组织化学标记物.
- 评估YAP1 C终端表达损失在区分转移性胸腺瘤与其他胸腺瘤的有用性.
主要方法:
- 分析了10种转移性胸腺瘤,50种常规胸腺瘤和7种胸腺癌.
- 光在位杂交 (FISH),下一代测序 (NGS) 和逆转录聚合酶链反应 (RT-PCR) 用于检测YAP1::MAML2融合.
- 在所有病例中,对YAP1 C端表达进行了免疫组织化学检查.
主要成果:
- 所有10种转移性胸腺瘤都显示了YAP1C端表达的丧失 (100%).
- 传统的胸腺瘤和胸腺癌保留了YAP1的C端表达.
- 分解FISH (BA-FISH) 试验在检测YAP1::MAML2融合中存在局限性,原因是基因相邻,而融合FISH (F-FISH) 和测序在大多数情况下证实了融合.
结论:
- YAP1 C端免疫组织化学是转移性胸腺瘤的敏感和特异性标记物.
- 失去了YAP1的C端表达,可以作为检测YAP1::MAML2融合的可靠替代品.
- 这种标志物有助于区分甲基塑性胸腺瘤与其模仿者.
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