具有状和状特征的侵入性泌尿管癌显示增加了RAS/RAF通路变化
Emily Chan1, Bradley A Stohr2, Ankur R Sangoi3
1Department of Pathology, University of California San Francisco, San Francisco, CA, USA; Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.
Human pathology
|August 2, 2025
概括
状和状尿路癌 (UCa) 呈现出混合尿路和腺癌特征的分子形状. 这种罕见的UCa亚型在DNA修复和RAS/RAF途径中具有可操作的治疗点.
科学领域:
- 在瘤学瘤学.
- 生殖尿路病理学
- 分子诊断学 分子诊断
背景情况:
- 具有状和状特征的侵袭性尿路细胞癌 (UCa) 是一种罕见的亚型.
- 这种UCa变体的分子特征在很大程度上仍未知.
研究的目的:
- 为了阐明状和状UCa的分子特征.
- 在这种不常见的瘤亚型中确定潜在的治疗点.
主要方法:
- 综合性下一代测序对9例状和状UCA进行了测序.
- 分析了UCa标记物 (p63,GATA3) 和其他血统标记物 (SOX10,CDX2) 的免疫组织化学.
主要成果:
- 管状和状UCa与传统UCa具有共同的分子形状,包括TERTp的改变,染色质重塑和细胞周期基因.
- 很大一部分病例 (5/9) 显示RAS/RAF通路的改变,更为典型的腺癌.
- 观察到高率的DNA损伤修复基因变异和高瘤突变负担.
结论:
- 管状和状UCa呈现出混合基因组特征的混合基因组特征,具有尿路和腺癌特征.
- 在RAS/RAF和DNA损伤修复途径的改变代表了潜在的治疗点.
- 这些分子发现支持该实体的分类,并指导潜在的治疗策略.
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