Ependymoma: genetics and demographics

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Ependymoma: genetics and demographics. The highest incidence is in children and young adults. Fully referenced neurology checklist.

Demographic features

  • The highest incidence is in children and young adults
  • Males are more frequently affected
  • 90% of childhood ependymomas are intracranial
  • Two-thirds of these are in the posterior fossa

High risk genetic mutations

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Poor prognostic gene markers

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References

  1. Rudà R, Reifenberger G, Frappaz D, et al. EANO guidelines for the diagnosis and treatment of ependymal tumors. Neuro Oncol 2018; 20:445-456.
  2. Pajtler KW, Witt H, Sill M, et al. Molecular classification of ependymal tumors across all CNS compartments, histopathological grades, and age groups. Cancer Cell 2015; 27:728-743. 
  3. Andreiuolo F, Varlet P, Tauziède-Espariat A, et al. Childhood supratentorial ependymomas with YAP1-MAMLD1 fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features. Brain Pathol 2018; doi: 10.1111/bpa.12659 (Epub ahead of print).
  4. Hosoya T, Kambe A, Nishimura Y, Sakamoto M, Maegaki Y, Kurosaki M. A pediatric case of Li-Fraumeni syndrome complicated with supratentorial anaplastic ependymoma. World Neurosurg 2018; pii: S1878-8750(18)31989-2.

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