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失 histone H3K27三甲基化 (H3K27me3) 表达作为潜在的诊断陷在肉类瘤癌
Megan L Zilla1, Ivy John1, Rana Naous1
1Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
International journal of surgical pathology
|November 24, 2023
概括
失去了组织素H3K27三甲基化 (H3K27me3) 表达发生在类癌的8%,模仿恶性外周神经膜瘤. 这一发现凸显了在具有挑战性的病例中潜在的诊断陷.
科学领域:
- 在瘤学瘤学.
- 病理学 病理学 病理学
- 遗传学 遗传学 是一个
背景情况:
- 失去了组织素H3K27三甲基化 (H3K27me3) 是恶性外围神经膜瘤 (MPNST) 的诊断标志物.
- 类癌可以在组织学上模仿MPNST.
- 有限的文献存在于H3K27me3表达在肉类瘤癌中.
研究的目的:
- 为了确定H3K27me3在肉类瘤癌中丧失的频率.
- 为了确定H3K27me3损失在肉类瘤癌中所带来的潜在诊断挑战.
主要方法:
- 50个肉类瘤样本的回顾性和前性检索.
- 用于H3K27me3.3.的免疫组织化学染色
- 在H3K27me3损失的病例上进行下一代测序.
主要成果:
- H3K27me3的表达在8% (4/50) 的肉类瘤癌中丧失.
- 这四个H3K27me3损失的病例包括尿路细胞,状细胞和细胞癌.
- 基因分析显示TP53,FANC和TERT的突变,CDKN2A/B和11q的拷贝数的改变.
结论:
- H3K27me3损失可以发生在肉类瘤癌中,这是一种诊断陷.
- 这种现象在缺乏氨酸表达的状细胞瘤中尤为重要.
- 这些病例的遗传变化不同于通常在MPNST中看到的.
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