使用下一代测序和化学疗法反应的先进类型瘤的基因组分析:使用C-CAT数据库的回顾性研究
Shuhei Suzuki1,2, Yosuke Saito3
1Yamagata Hereditary Tumor Research Center, Yamagata University School of Medicine, 2-2-2 Iida-nishi, Yamagata 990-9585, Japan.
Medicina (Kaunas, Lithuania)
|November 27, 2024
概括
植物瘤的基因组分析揭示了频繁的TERT促进器,MED12和TP53突变. 特定的变化可能预测治疗耐药性,指导未来针对性治疗这种罕见的乳腺新生体.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 病理学 病理学 病理学
背景情况:
- 乳腺瘤是罕见的乳腺瘤,治疗选择有限.
- 它们的分子特征和基因组变化仍然不太清楚.
- 确定治疗目标和预测标记对于改善患者的治疗结果至关重要.
研究的目的:
- 在先进的植物瘤中分析基因组变化.
- 为了将这些变化与治疗结果相关联.
- 为了确定潜在的治疗标和预测标记物,用于phyllodes瘤.
主要方法:
- 来自日本C-CAT数据库的60个植物瘤病例的回顾性分析.
- 使用多个平台进行全面的基因组分析.
- 使用RECIST标准对治疗反应的评估以及对病原性变异的评估.
主要成果:
- 发现的频繁突变:TERT促进体 (70%),MED12 (52%) 和TP53 (50%).
- CDKN2A和TERT的改变显示出治疗耐药性的趋势.
- 一名高瘤突变负担的患者对 pembrolizumab 有反应;在 MSH6 和 TP53 中发现了潜在的生殖系变异.
结论:
- 与其他软组织瘤相比,Phyllodes瘤表现出明显的分子模式.
- 特定的遗传变化可以通过预测治疗耐药性来指导治疗决策.
- 在某些特定病例中可操作的突变表明了针对性治疗方法的机会.
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.
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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 I: Proto-oncogenes
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...
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...
Cancer-Critical Genes I: Proto-oncogenes
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...
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...


