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Extrachromosomal DNA in urothelial carcinoma: mechanisms and clinical applications - PubMed

5 hours ago
  • #extrachromosomal DNA
  • #biomarker
  • #urothelial carcinoma
  • Extrachromosomal DNA (ecDNA) drives genomic instability and rapid tumor evolution in urothelial carcinoma.
  • ecDNA amplifies oncogenes, reshapes chromatin interactions, reprograms transcription, and modulates the tumor-immune interface in urothelial carcinoma.
  • These features contribute to intratumoral heterogeneity, accelerate APOBEC3-associated mutational evolution, and lead to aggressive disease.
  • Advances in sequencing and imaging technologies have improved understanding of ecDNA biology.
  • ecDNA can be detected non-invasively via liquid biopsies (urine, plasma) and inferred from histopathology slides using digital pathology.
  • ecDNA has potential as a biomarker for early detection, patient stratification, and monitoring treatment response in urothelial carcinoma.