融合基因在肺状细胞癌的频率和功能性特征
Christina Alidousty1, Arvid Becker2, Elke Binot2
1University Hospital and Medical Faculty, University of Cologne, Institute of Pathology, Kerpener Straße 62, 50937 Cologne, Germany; Network Genomic Medicine, Cologne, Germany.
Gene
|November 19, 2023
概括
在肺状细胞癌 (LUSC) 中,基因融合是罕见的,已知和新型类型在3%的病例中被发现. 染色体的不稳定性可能导致这些重组,这表明在解释它们的作用时要谨慎.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 分子生物学分子生物学
背景情况:
- 肺状细胞癌 (LUSC) 与肺腺癌 (LUAD) 相比,具有更少的可向基因变异.
- 基因融合正在成为各种固体瘤中重要的治疗点.
- 这项研究调查了LUSC中反复发生的基因融合,以了解它们的基因组景观.
研究的目的:
- 在LUSC患者队列中识别和表征复发性基因融合.
- 为了功能性地分析这些融合的瘤基因组.
- 评估在LUSC.中发现的基因融合的潜在治疗影响.
主要方法:
- 使用FusionPlex®肺部面板对1608例LUSC病例进行针对性的下一代测序.
- 光在位杂交 (FISH),细胞扫描HD阵列和细胞培养以供进一步分析.
- 复发性基因融合的瘤的全面基因组特征.
主要成果:
- 大约3%的LUSC病例含有已知的和新的基因融合.
- 已识别的已知融合包括ALK::EML4,EGFRvIII,EZR::ROS1和FGFR3::TACC.
- 发现了新的复发融合EGFR::VSTM2A和NSD3::FGFR1;EGFR::VSTM2A与高水平EGFR放大相关.
- LUSC基因组表现出显著的染色体不稳定性,这表明重排可能是由于"染色体混乱"而不是特定的驱动事件造成的.
结论:
- 在LUSC中的新基因融合应该在疾病的特定分子背景下谨慎地解释.
- 在LUSC中高程度的染色体不稳定性可能有助于形成无法采取行动的基因组重组.
- 需要进一步的研究,以阐明这些融合在LUSC病原和潜在的治疗向中的确切作用.
相关概念视频
02:11Reporter Genes
11.4K
Reporter genes are a type of protein-coding gene that are often tagged to a gene of interest. Once inside a target cell, reporter genes usually produce visually identifiable characteristics like fluorescence and luminescence when expressed along with the gene of interest. Thus, reporter genes “report” the presence or absence of genes of interest in an organism, determine the gene expression pattern, or track the physical location of a DNA segment or protein in the cell.
11.4K
01:12Loss of Tumor Suppressor Gene Functions
4.8K
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...
4.8K
02:23Abnormal Proliferation
4.5K
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...
4.5K
01:03Rous Sarcoma Virus (RSV) and Cancer
5.1K
Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
5.1K
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
7.4K
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...
7.4K
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