Ependymoma (EPM)

Overview

Ependymoma is a glial tumor arising from ependymal cells lining the ventricular system and central canal of the spinal cord. It is classified by location (supratentorial, posterior fossa, spinal) and molecular subtype. The 2021 WHO classification recognizes molecularly defined entities including RELA-fused supratentorial ependymoma (now ST EPN, ZFTA fusion-positive), YAP1-fused supratentorial ependymoma, posterior fossa group A (PFA) and group B (PFB) ependymoma, and spinal ependymomas. Prognosis varies by molecular subtype; RELA-fused supratentorial ependymoma carries a poor prognosis.

Cohorts in the corpus

  • mixed_pipseq_2017 — PIPseq pediatric pan-cancer cohort (Columbia University Medical Center), which includes ependymoma cases among 101 high-risk pediatric patients PMID:28007021.

Recurrent alterations

  • PIPseq cohort: C11orf95-RELA fusion (now designated ZFTA-RELA) with chromothripsis-like alternating gains/losses on chr11 and chr22 identified in a supratentorial EPM patient — diagnostic of RELA-type supratentorial ependymoma and prognostic for poor outcome; BRCA1 germline frameshift identified in a separate EPM patient as a breast-cancer health-maintenance flag (returned as ACMG secondary finding); VHL I180T germline variant identified in an EPM patient as Von Hippel-Lindau syndrome PMID:28007021.

Subtypes

  • Supratentorial ZFTA (C11orf95) fusion-positive (formerly RELA-fused): most common supratentorial ependymoma in children; poor prognosis.
  • Supratentorial YAP1 fusion-positive: better prognosis.
  • Posterior fossa group A (PFA): methylation-defined; younger patients; worse prognosis.
  • Posterior fossa group B (PFB): methylation-defined; older patients; better prognosis.
  • Spinal ependymoma: often NF2-associated (myxopapillary or conventional).

Therapeutic landscape

  • Surgery (maximal safe resection) is cornerstone; radiotherapy for residual/recurrent disease.
  • No standard targeted therapy; RELA-fused supratentorial EPM may be sensitive to CDK4/6 or NF-kB pathway inhibitors (preclinical rationale).

Sources

  • PMID:28007021 — Oberg et al. PIPseq pediatric pan-cancer sequencing program (n=101).

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