C11orf95-RELA fusion present in a primary supratentorial ependymoma and recurrent sarcoma

Brain Tumor Pathol. 2015 Apr;32(2):105-11. doi: 10.1007/s10014-014-0205-1. Epub 2014 Nov 12.

Abstract

Ependymomas are rare glial tumors of the central nervous system that arise from the cells lining the ventricles and central canal within the spinal cord. The distribution of these tumors along the neuroaxis varies by age, most commonly involving the spinal cord in adults and the posterior fossa in children. It is becoming evident that ependymomas of infratentorial, supratentorial, and spinal cord location are genetically distinct which may explain the differences in clinical outcomes. A novel oncogenic fusion involving the C11orf95 and RELA genes was recently described in supratentorial ependymomas that results in constitutive aberrant activation of the nuclear factor-kB signaling pathway. Ependymosarcomas are rare neoplasms in which a malignant mesenchymal component arises within an ependymoma. We here describe a case of a sarcoma developing in a patient previously treated with chemotherapy and radiation whose original ependymoma and recurrent sarcoma were both shown to carry the type 1 C11orf95-RELA fusion transcript indicating a monoclonal origin for both tumors.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Ependymoma / genetics*
  • Ependymoma / pathology
  • Female
  • Gene Fusion
  • Humans
  • Magnetic Resonance Imaging
  • NF-kappa B / genetics
  • Neoplasm Recurrence, Local / genetics
  • Neoplasm Recurrence, Local / pathology
  • Neoplasms, Multiple Primary / genetics*
  • Neural Cell Adhesion Molecule L1
  • Proteins / genetics*
  • Recombinant Fusion Proteins / genetics*
  • Sarcoma / genetics*
  • Sarcoma / pathology
  • Signal Transduction / genetics
  • Supratentorial Neoplasms / genetics*
  • Supratentorial Neoplasms / pathology
  • Transcription Factor RelA / genetics*
  • Transcription, Genetic / genetics

Substances

  • C11orf95 protein, human
  • NF-kappa B
  • Neural Cell Adhesion Molecule L1
  • Proteins
  • RELA protein, human
  • Recombinant Fusion Proteins
  • Transcription Factor RelA