通过RAS/RAF/MAPK途径改变的脏瘤产生,超出皮质脏瘤与逆极性
Jung Woo Kwon1, Peng Wang, Pankhuri Wanjari
1Department of Pathology, The University of Chicago, Chicago, IL.
The American journal of surgical pathology
|June 25, 2025
概括
在罕见的瘤中发现了RAS/RAF/MAPK通路的改变,具有不同的分子和形态特征. 识别这些变化对于癌潜在的向治疗至关重要.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 病理学 病理学 病理学
背景情况:
- 癌症中RAS/RAF/MAPK信号通路的定义很好,但其在脏瘤发生中的作用在很大程度上是未知的.
- 逆极性乳头瘤 (PRNRP) 是一个例外,已知有KRAS变化.
研究的目的:
- 研究瘤中RAS/RAF/MAPK路径变化的作用和特征.
- 探索这些瘤的形态,免疫组织化学和分子异质性.
主要方法:
- 下一代测序 (NGS) 在芝加哥大学的383个脏瘤和TCGA PRCC/染色恐惧RCC数据集的406个瘤上进行.
- 鉴定了RAS/RAF/MAPK路径改变的瘤,并根据形态分为三组.
主要成果:
- 确定了15种脏瘤,其中RAS/RAF/MAPK路径发生了改变 (KRAS,BRAF,RAF1,NRAS).
- 三个不同的形态群体出现了:经典的PRNRPs,主要是管囊性和带有高等级特征的乳头.
- 高度乳头瘤 (3组) 与低度组不同,显示出更频繁的额外遗传变化,显著的副本数变化和转移潜力.
结论:
- 具有RAS/RAF/MAPK通路改变的脏瘤是异质的,表现出不同的形态,免疫组织化学和分子形状.
- 鉴定这些变化具有临床意义,为FDA批准的疗法提供了潜在的点.
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