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Updated: Oct 22, 2026

DNA-FISH Metaphase Spreads to Distinguish Extrachromosomal DNA from Homogeneously Staining Regions in Human Cancer Cell Lines
Published on: August 4, 2026
Extrachromosomal DNA: drivers of tumor heterogeneity and evolution
Siwen Zhao1, Enwu Xu2,3, Jirong Jie1
1The School of Traditional Medicine, Southern Medical University, Guangzhou, Guangdong, China.
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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