Two cases of spinal tanycytic ependymomas occurring in brothers with a neurofibromatosis type 2 gene mutation

Clin Neurol Neurosurg. 2022 Jul;218:107303. doi: 10.1016/j.clineuro.2022.107303. Epub 2022 May 18.

Abstract

Tanycytic ependymomas are a rare spinal cord tumour arising from tanycyte cells lining the ventricle or spinal central canal. This is the first report of familial spinal tanycytic ependymoma occurring in two first degree relatives. Both patients underwent surgical resection of the intra-medullary tumours with good overall recovery. Genetic analysis identified that the brothers shared a previously unreported mutation in the NF-2 gene. NF-2 mutations in spinal tanycytic ependymomas may be more common than initially thought and consideration should be given to screening the neural axis for other tumours and genetic counselling.

Keywords: Intra-medullary tumour; NF-2; Neurofibromatosis; Spinal tumour; Tanycytic ependymoma.

Publication types

  • Case Reports

MeSH terms

  • Brain Stem Neoplasms*
  • Ependymoma* / diagnosis
  • Ependymoma* / genetics
  • Ependymoma* / surgery
  • Humans
  • Male
  • Mutation / genetics
  • Neurofibromatosis 2* / complications
  • Neurofibromatosis 2* / genetics
  • Siblings
  • Spinal Cord Neoplasms* / diagnosis
  • Spinal Cord Neoplasms* / genetics
  • Spinal Cord Neoplasms* / surgery