文章：

癌症中的染色体分裂

Chromothripsis in cancer

原文发布日期：2024-11-15

DOI: 10.1038/s41568-024-00769-5

类型: Review Article

开放获取: 否

英文摘要：

Chromothripsis is a mutational phenomenon in which a single catastrophic event generates extensive rearrangements of one or a few chromosomes. This extreme form of genome instability has been detected in 30–50% of cancers. Studies conducted in the past few years have uncovered insights into how chromothripsis arises and deciphered some of the cellular and molecular consequences of chromosome shattering. This Review discusses the defining features of chromothripsis and describes its prevalence across different cancer types as indicated by the manifestations of chromothripsis detected in human cancer samples. The different mechanistic models of chromothripsis, derived from in vitro systems that enable causal inference through experimental manipulation, are discussed in detail. The contribution of chromothripsis to cancer development, the selective advantages that cancer cells might gain from chromothripsis, the evolutionary trajectories of chromothriptic tumours, and the potential vulnerabilities and therapeutic opportunities presented by chromothriptic cells are also highlighted.

摘要翻译： 

染色体碎裂是一种突变现象，指单个灾难性事件导致一条或几条染色体发生大规模重排。这种极端形式的基因组不稳定性已在30%-50%的癌症中被检测到。过去几年的研究揭示了染色体碎裂的发生机制，并破译了染色体破碎带来的部分细胞与分子后果。本综述探讨染色体碎裂的定义特征，通过人类癌症样本中检测到的染色体碎裂表现，阐述其在不同癌症类型中的普遍性。详细讨论了基于体外系统的不同染色体碎裂机制模型，这些模型通过实验操作实现了因果推断。同时重点阐述了染色体碎裂对癌症发展的贡献、癌细胞可能从染色体碎裂中获得的选择优势、染色体碎裂肿瘤的进化轨迹，以及染色体碎裂细胞呈现的潜在脆弱性和治疗机遇。

原文链接：

Chromothripsis in cancer