在子宫内膜癌中具有主导性的负 PTEN 变化与保留的免疫组织化学 PTEN 表达有关
Kianoosh Keyhanian1, Aurelia Busca1, Brooke Howitt2
1Gynecologic Pathologist, Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Canada .
主导阴性PTEN突变在子宫内膜癌 (EC) 中很常见,并且经常显示保留的PTEN免疫组织化学 (IHC) 染色. IHC和下一代测序 (NGS) 对于充分评估EC中PTEN异常至关重要.
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 是一个
背景情况:
- PTEN免疫组织化学 (IHC) 用于评估子宫内膜癌 (EC) 中的PTEN异常.
- PTEN IHC染色模式并不总是与测序结果相关,因为一些PTEN变体以主导负 (DN) 方式作用,抑制野生类型的活动.
- 了解PTEN突变和IHC模式之间的相关性对于准确的诊断和治疗至关重要.
研究的目的:
- 评估子宫内膜癌 (ECs) 中的PTEN IHC模式,特别是具有主导负 (DN) PTEN突变.
- 确定结合IHC和下一代测序 (NGS) 的实用性,以便在EC中进行全面的PTEN异常评估.
主要方法:
- 在3年时间内注册了182个EC病例,可获得下一代测序 (NGS) 数据.
- 使用Oncomine综合测试v3进行NGS分析.
- 获得的PTEN IHC作为损失,亚克隆损失,减少或完整 (保留表达).
主要成果:
- 在EC病例中发现了114例 (62.6%) 的PTEN突变,主要是子宫内膜组织型 (87.7%).
- 在47例病例中 (41.2%的突变病例) 发现了主导阴性 (DN) PTEN突变,发生在各种组织型和分子类.
- 在95.8%的DNA突变病例中,PTEN IHC显示保留表达 (完好,减少或亚克隆损失),只有4.2%显示表达损失.
结论:
- 主导阴性PTEN突变在子宫内膜癌 (EC) 中普遍存在,并且经常与保留的PTEN IHC染色有关.
- PTEN IHC和NGS都是全面识别EC中PTEN异常的重要工具.
- 这种综合方法确保更全面地了解PTEN状态,这对于临床决策至关重要.
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