远程复发的寡质瘤的基因组变化
Guanzheng Liu1,2, Chaojie Bu1,2, Guangzhong Guo1,2
1Department of Neurosurgery, Zhengzhou University People's Hospital, Henan Provincial People's Hospital, Zhengzhou, China.
Cancer medicine
|August 3, 2023
概括
瘤进展过程中,小腺瘤的遗传变化演变,主要和复发性瘤之间共享的突变很低. 像PI3K/AKT和SHh这样的关键途径可能会导致治疗耐药性和复发.
科学领域:
- 神经瘤学神经瘤学
- 基因组学就是基因组学.
- 癌症生物学 癌症生物学
背景情况:
- 寡头质瘤通常显示出良好的预后和治疗反应.
- 有限的理解存在关于在寡头质瘤进展过程中的遗传变化.
研究的目的:
- 在Oligodendroglioma进展过程中研究体内基因进化.
- 分析来自复发瘤患者的纵向基因组数据.
主要方法:
- 循环瘤DNA (ctDNA) 的深度全基因组测序.
- 从6名患者的基因组数据分析瘤进化过程中,包括5名患有远程复发.
主要成果:
- 在原发性和复发性寡头质瘤样本之间共享突变的低率.
- 在复发瘤中观察到的主要驱动突变 (CIC,FUBP1) 和IDH突变转化损失.
- 在复发瘤中激活PI3K/AKT和Sonic hedgehog (SHh) 途径;在一个病例中,超突变与MMR基因突变有关.
结论:
- 在进化过程中,寡头质瘤表现出显著的空间和时间异质性.
- PI3K/AKT和SHh通路与治疗耐药性和远程复发有关.
- 瘤恶性瘤在进化过程中倾向于增加,远期复发作为晚期事件.
相关概念视频
Mutations
Overview
Mutations
Overview
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...
Loss of Tumor Suppressor Gene Functions
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...
Mutations
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations in Microorganisms
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...


