在GIST中的基因组分析:临床结果的影响和未来的挑战
German Calderillo-Ruíz1, Eloy Andrés Pérez-Yepez2, María Alejandra García-Gámez3
1Departamento de Oncología Gastrointestinal, Instituto Nacional de Cancerología, Tlalpan, CDMX, México.
Neoplasia (New York, N.Y.)
|January 6, 2024
概括
胃肠道筋瘤 (GIST) 基因组测试,包括循环瘤DNA (ctDNA) 的液体活检,指导个性化治疗. ctDNA测试提供了一种非侵入性的方法来识别GIST突变并预测治疗反应.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子诊断学 分子诊断
背景情况:
- 胃肠道流体瘤 (GIST) 是消化道中最常见的介质瘤.
- 在KIT,PDGFRA,SDH和BRAF基因中的基因组改变是GIST瘤发生的关键驱动因素.
- 在KIT和PDGFRA的特定突变影响预后和向治疗反应.
研究的目的:
- 讨论GIST中突变测试的临床影响.
- 审查在GIST.中测试循环瘤DNA (ctDNA) 的方法.
- 探索未来的挑战,为GIST建立个性化医疗.
主要方法:
- 关于GIST分子测试和临床结果的文献综述.
- 讨论传统的组织活检与液体活检 (ctDNA) 用于GIST生物标志物分析.
- 基于特定基因突变的TKI (铁氨酸激酶抑制剂) 反应的分析.
主要成果:
- 基因突变和PDGFRA突变是像伊马替尼布,苏尼替尼布和阿瓦普里提尼布这样的疗法的可操作目标.
- 液体活检 (ctDNA) 是一种非侵入性方法,有效检测GIST突变,包括那些被组织活检遗漏的突变.
- ctDNA测试有助于评估GIST进展风险和对TKI治疗的反应,提供动态瘤遗传见解.
结论:
- 突变检测,特别是ctDNA分析,对于个性化GIST管理至关重要.
- 液体活检为全面的GIST遗传分析提供了一个不那么侵入性的替代方案.
- 在ctDNA测试方面的进步是克服GIST个性化医学挑战的关键.
相关概念视频
02:02Genomics
36.4K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
36.4K
03:00Next-generation Sequencing
88.9K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
88.9K
01:11Genome-wide Association Studies-GWAS
13.4K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.4K
01:28Human Genetics
576
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
576