Extrachromosomal DNA: drivers of tumor heterogeneity and evolution.

IF 8.9 4区医学 Q1 MEDICINE, GENERAL & INTERNAL

QJM: An International Journal of Medicine Pub Date : 2026-10-10 DOI:10.1093/qjmed/hcag285

Siwen Zhao, Enwu Xu, Jirong Jie, Chao Su, Yanyi You, Ziqing Jiang, Xiaohui Wen, Fengying Gong, Ying Lv, Ying Liu, Fei Li, Qin Fan, Daoqi Zhu

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引用次数: 0

Abstract

Background: Extrachromosomal DNA (ecDNA) is a key structural variant in cancer genomes, recently identified as a crucial driver of tumor heterogeneity and evolution.

Aim: This review aims to summarize the molecular characteristics of ecDNA and elucidate the mechanisms by which it influences tumor evolution and heterogeneity.

Design: Narrative review.

Methods: We conducted a literature search on the formation, function, and clinical implications of ecDNA using PubMed and other relevant databases.

Results: ecDNA is prevalent in highly invasive tumors and enhances oncogene expression by forming multifunctional transcriptional hubs. Its random mitotic distribution generates high intra-tumoral copy number heterogeneity, allowing cells to dynamically regulate oncogene expression and rapidly adapt to selective pressures.

Conclusions: ecDNA offers a novel perspective on tumor resistance mechanisms. Targeting ecDNA formation and regulatory networks holds promise for developing new combination therapies and biomarkers for malignant tumors.

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染色体外DNA：肿瘤异质性和进化的驱动因素。

背景：染色体外DNA （ecDNA）是癌症基因组中一个关键的结构变异，最近被发现是肿瘤异质性和进化的关键驱动因素。目的：综述ecDNA的分子特征，阐明其影响肿瘤演化和异质性的机制。设计：叙述回顾。方法：利用PubMed等相关数据库对ecDNA的形成、功能和临床意义进行文献检索。结果：ecDNA在高度侵袭性肿瘤中普遍存在，并通过形成多功能转录中心来增强癌基因的表达。它的随机有丝分裂分布产生了较高的肿瘤内拷贝数异质性，使细胞能够动态调节癌基因表达并迅速适应选择压力。结论：ecDNA为研究肿瘤耐药机制提供了新的视角。靶向ecDNA形成和调控网络为开发新的联合疗法和恶性肿瘤生物标志物提供了希望。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

QJM: An International Journal of Medicine 医学-医学：内科

CiteScore

6.90

自引率

5.30%

发文量

263

审稿时长

4-8 weeks

期刊介绍： QJM, a renowned and reputable general medical journal, has been a prominent source of knowledge in the field of internal medicine. With a steadfast commitment to advancing medical science and practice, it features a selection of rigorously reviewed articles. Released on a monthly basis, QJM encompasses a wide range of article types. These include original papers that contribute innovative research, editorials that offer expert opinions, and reviews that provide comprehensive analyses of specific topics. The journal also presents commentary papers aimed at initiating discussions on controversial subjects and allocates a dedicated section for reader correspondence. In summary, QJM's reputable standing stems from its enduring presence in the medical community, consistent publication schedule, and diverse range of content designed to inform and engage readers.