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Dominant clones leverage developmental epigenomic states to drive ependymoma - PubMed

5 hours ago
  • #epigenomics
  • #oncology
  • #ependymoma
  • ZFTA-RELA (ZR) is the most recurrent genetic alteration in paediatric supratentorial ependymoma (EPN) and can initiate tumours in mice.
  • Specific chromatin modules accessible during brain development make certain cell lineage programs susceptible to transformation by ZR.
  • Combined single-nucleus assay for transposase-accessible chromatin and RNA sequencing (snMultiome) was performed on developing mouse forebrain and ZR-driven EPN.
  • Transient progenitor cells regulated by PLAG/L family transcription factors are at risk of neoplastic transformation.
  • ZR or other PLAG/L family motifs targeting fusion oncoproteins lead to persistent chromatin accessibility and oncogene expression.
  • Mouse and human ZR EPN show significant cell type heterogeneity with incomplete neurogenic and gliogenic differentiation.
  • A small percentage of cycling progenitor-like or radial glial-like cells establish a putative tumour cell hierarchy.
  • In vivo lineage tracing identified dominant neoplastic clones that drive tumour growth and establish the EPN cellular hierarchy.
  • The study identifies critical developmental epigenomic states for fusion-oncoprotein-driven transformation and their role in tumour progression.