乳头性细胞癌,以前称为2型:一项针对组织学和分子特征的单一机构研究
Melissa Yuwono Tjota1, Jung Woo Kwon1, Pankhuri Wanjari1
1Department of Pathology, The University of Chicago, Chicago, IL, USA.
Histopathology
|December 16, 2025
概括
分子特征对于乳头性细胞癌 (pRCC) 至关重要,因为仅凭组织学特征无法识别特定的基因变异. 这项研究分析了63例pRCC病例,揭示了多种突变,并强调了分子亚型的必要性.
科学领域:
- 在瘤学瘤学.
- 脏病理学 脏病理学
- 分子诊断学 分子诊断学
背景情况:
- 乳头性细胞癌 (pRCC) 是细胞癌 (RCC) 的第二个最常见的亚型,占15%-20%的病例.
- 由于异质组织学,免疫组织化学和分子发现,对pRCC的分类,特别是2型或高等级变体,仍然具有挑战性.
研究的目的:
- 从组织学和分子学上描述一组63例最初被诊断为pRCC,2型或高度pRCC的病例.
- 在这些具有挑战性的PRCC病例中调查基因变异的频谱.
主要方法:
- 对63例被诊断为2型或高等级PRCC的病例进行了组织学审查.
- 综合分子分析以确定基因突变和拷贝数的改变.
主要成果:
- 大多数病例呈现出乳头状图案 (n=59),具有特征性的大细胞,eosinophilic细胞质和突出的细胞核.
- 分子分析显示,SETD2 (n=9),KDM6A (n=7),NF2 (n=7),TERT (n=7),PBRM1 (n=5) 和PMS2 (n=4) 中经常发生突变.
- 在RTK/RAS,PI3K,TP53通路和细胞周期相关基因 (例如,KRAS,NRAS,TSC2,TP53,CHEK2,CDKN2A,CCND3) 中也发现了变化.
结论:
- 这项研究强调了pRCC中显著的分子异质性.
- 仅仅基于组织学特征就不足以区分具有不同潜在病原性分子变化的病例.
- 分子表征对于准确的诊断至关重要,并有可能指导未来的治疗策略.
更多相关视频
05:36Comparing Metastatic Clear Cell Renal Cell Carcinoma Model Established in Mouse Kidney and on Chicken Chorioallantoic Membrane
Published on: February 8, 2020
9.4K
06:29Microfluidic Co-culture of Renal Healthy and Tumor Epithelium to Model Kidney Cancer Progression
Published on: January 31, 2025
1.2K
相关概念视频
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...