NOTCH1和PIK3CA突变与与HPV相关的皮状细胞癌有关
M Choschzick1, C Stergiou1, A Gut1
1Department of Pathology and Molecular Pathology, University Hospital Zurich, Zurich, Switzerland.
Pathology, research and practice
|October 15, 2023
概括
NOTCH1和PIK3CA基因的突变在状状细胞癌 (vulvSCC) 中很常见,并且与HPV感染和瘤攻击性行为有关. 这些遗传变化表明NOTCH1作为瘤抑制剂和PIK3CA作为 vulva癌症发展中的瘤基因具有不同的作用.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 阴道状细胞癌 (vulvSCC) 按HPV关联分类,但NOTCH1和PIK3CA突变的作用尚不清楚.
- NOTCH1和PIK3CA是细胞信号通路的关键参与者,在各种状细胞癌中经常受到失调.
研究的目的:
- 调查不同vulvSCC队列中NOTCH1和PIK3CA突变的流行率和临床意义.
- 确定这些突变与HPV状况,瘤特征和患者存活率的关联.
主要方法:
- 使用混合捕获对 vulvSCC.的两个队列进行了全面的基因组分析.
- 分析包括在NOTCH1和PIK3CA中识别短变体,更改副本编号和重新排列.
- 使用统计方法将突变与HPV感染,瘤阶段,分化和存活率相关联.
主要成果:
- NOTCH1和PIK3CA突变分别在35%和31%的原发性 vulvSCC中被发现,并且与HPV感染有显著的相关性.
- 这些基因的突变与晚期瘤阶段和差异化有关.
- NOTCH1突变主要是失活的,这表明瘤抑制作用,而PIK3CA突变更有利于瘤热点.
结论:
- NOTCH1和PIK3CA突变在vulvSCC中很常见,并且与HPV状态和瘤攻击性行为有关.
- NOTCH1充当瘤抑制剂,而PIK3CA则在癌发生过程中充当瘤基因.
- 这些发现强调了这些基因变化的重要性,以了解vulvSCC病原体和潜在的治疗点.
更多相关视频
10:26RNAscope for In situ Detection of Transcriptionally Active Human Papillomavirus in Head and Neck Squamous Cell Carcinoma
Published on: March 11, 2014
27.4K
07:43Four-color Fluorescence Immunohistochemistry of T-cell Subpopulations in Archival Formalin-fixed, Paraffin-embedded Human Oropharyngeal Squamous Cell Carcinoma Samples
Published on: July 29, 2017
9.7K
相关概念视频
03:14Notch Signaling Pathway
4.3K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.3K
01:12Role Of Notch Signalling In Intestinal Stem Cell Renewal
2.1K
Notch signaling was first discovered in Drosophila melanogaster, where it is involved in cell lineage differentiation. Notch signaling regulates the maintenance and differentiation of intestinal stem cells or ISCs by controlling the expression of atonal homolog 1 or Atoh1. Atoh1 directs cells to differentiate into secretory cells.
Direct cell-to-cell contact is needed for the activation of Notch signaling. The signal is initiated when a notch ligand binds to a receptor on an adjacent cell, also...
Direct cell-to-cell contact is needed for the activation of Notch signaling. The signal is initiated when a notch ligand binds to a receptor on an adjacent cell, also...
2.1K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
7.5K
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...
7.5K
01:12Loss of Tumor Suppressor Gene Functions
4.9K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
4.9K
01:33Cancer-Critical Genes I: Proto-oncogenes
8.9K
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...
8.9K
02:23Abnormal Proliferation
4.6K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.6K