相关实验视频
Updated: Jun 16, 2025

Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
纵向和多位点采样揭示了转移性传播期间瘤的突变和复制数演变
Karena Zhao1,2,3, Joris Vos1,2, Stanley Lam1,2,3
1Department of Surgery, Laboratory of Experimental Cancer Immunogenomics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
癌症转移主要涉及拷贝数变化 (CNA),而不是突变. 全基因组重复和9p的丧失是常见的事件,在免疫治疗患者中,增加的CNA与免疫逃避有关.
科学领域:
- 基因组学就是基因组学.
- 癌症生物学 癌症生物学
- 进化医学是一种进化医学.
背景情况:
- 了解癌症转移的遗传基础对于开发有效的治疗方法至关重要.
- 纵向基因组分析提供了关于瘤在转移过程中经历的动态进化过程的见解.
研究的目的:
- 为了研究癌症在远程转移期间发生的基因组变化.
- 为了比较转移性进展期间的拷贝数变化 (CNAs) 与突变的积累.
- 在接受免疫治疗的患者中探索基因组改变和免疫逃避之间的关系.
主要方法:
- 分析了3732名癌症患者的基因组资料,从多个瘤部位进行了纵向活检.
- 在转移性传播过程中对拷贝数变化 (CNA) 和突变的表征.
- 基因组变化的相关性与患者对免疫治疗的反应.
主要成果:
- 在远程转移过程中,瘤积累的CNA显著超过了远程转移中的突变.
- 在转移期间,全基因组复制在28%的患者中出现了de novo.
- 在11%的患者中发生了9p (包括CDKN2A) 的损失.
- 增加CNAs,但不是突变负载,与免疫疗法治疗患者的免疫逃避相关.
结论:
- 癌症转移的特点是CNAs的大量积累,特别是整个基因组重复和特定的染色体损失.
- CNA,而不是突变,似乎是转移期间遗传进化的主要驱动力.
- 转移期间CNA的丰富可能会增强细胞适应性,同时可能平衡免疫性,影响治疗反应.
更多相关视频
05:23Author Spotlight: Decoding Metastasis-to-Metastasis Seeding Using a New In Vivo Technique for Tracking Breast Cancer Spread
Published on: July 7, 2023
10:27Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
相关概念视频
Tumor Progression
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...
Metastasis
Epithelial-to-Mesenchymal Transition
The epithelial-to-mesenchymal transition or EMT is a developmental process commonly observed in wound healing, embryogenesis, and cancer metastasis. EMT is induced by transforming growth factor-beta (TGF-β) or receptor tyrosine kinase (RTK) ligands, which further...
Cancers Originate from Somatic Mutations in a Single Cell
Adaptive Mechanisms in Cancer Cells
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Cancer