通过整合分子数据,根据世卫组织最新的指导方针,更新TCGA质瘤分类
Mónica Leiria de Mendonça1, Roberta Coletti2, Céline S Gonçalves3,4
1INESC-ID, Instituto Superior Técnico, Universidade de Lisboa, R. Alves Redol 9, 1000-029, Lisbon, Portugal.
Scientific data
|June 4, 2025
概括
这项研究更新了癌症基因组图谱 (TCGA) 结质瘤分类,使用了2016年和2021年世界卫生组织 (WHO) 的指导方针. 这些方法成功地重新分类了大多数样本,改善了用于脑瘤研究的数据.
科学领域:
- 神经瘤学神经瘤学
- 基因组学就是基因组学.
- 癌症分类 癌症分类
背景情况:
- 质瘤的诊断和分类已经随着遗传和分子分析而演变.
- 世界卫生组织 (WHO) 中枢神经系统 (CNS) 瘤分类在2016年和2021年进行了更新.
- 像癌症基因组图集 (TCGA) 这样的大型数据集至关重要,但可能包含过时的质瘤注释.
研究的目的:
- 开发和验证更新TCGA质瘤样本分类的方法.
- 为了使TCGA质瘤数据与2016年和2021年世卫组织中枢神经系统瘤指南保持一致.
- 为质瘤重新分类提供可复制的管道.
主要方法:
- 集成开放访问策划的分子分析数据.
- 开发两种不同的重新分类方法 (方法-2016和方法-2021).
- 使用R脚本来实现和定制管道.
主要成果:
- 方法-2016成功更新了对98%的TCGA质瘤病例的分类.
- 方法-2021更新了TCGA质瘤病例的87%的分类.
- 这些管道有助于简单地复制和适应未来的指南更新.
结论:
- 提出的方法有效地根据当前的世卫组织指导方针重新分类TCGA质瘤样本.
- 这些更新的分类增强了回顾性多omics数据对脑瘤研究的有用性.
- 提供的R脚本确保了科学界的可访问性和可重复性.
相关概念视频
Cancer
Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.
Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Cancer-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...
Tumor Progression
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Cancer-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...
Tumor Immunotherapy
Immunotherapy is a treatment that boosts or manipulates the immune system to fight diseases, including cancer. For instance, by stimulating an immune response through vaccinations against viruses that cause cancers, like hepatitis B virus and human papillomavirus, these diseases can be prevented. Nonetheless, some cancer cells can avoid the immune system due to their rapid mutation and division. The immune response to many cancers involves three phases: elimination, equilibrium, and escape.


