The maintenance and de-mixing of extrachromosomal DNA variants in single cells.

ABSTRACT: Extrachromosomal DNA (ecDNA) has emerged as a key driver of oncogene amplification and a major contributor to rapid intra-tumour heterogeneity, thereby promoting tumour progression and therapeutic resistance. This heterogeneity arises from pronounced cell-to-cell variability in ecDNA copy number, enabling complex ecDNA amplicon compositions within individual tumour cells. Approximately one-third of ecDNA-positive tumours harbour multiple co-selected ecDNA species. However, the mechanisms governing the heterogeneity and persistence of ecDNA variants - beyond the presence of distinct ecDNA species - remain less well understood. In particular, little is known about the maintenance of genetic or phenotypic diversity within a single ecDNA species. Here, we develop computational models to invest

SUBMITTER: Scanu E 

PROVIDER: S-EPMC12330626 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature