Molecular characterization reveals NF1 deletions and FGFR1-activating mutations in a pediatric spinal oligodendroglioma

Pediatr Blood Cancer. 2017 Jun;64(6):10.1002/pbc.26346. doi: 10.1002/pbc.26346. Epub 2016 Nov 10.

Abstract

Pediatric spinal oligodendrogliomas are rare and aggressive tumors. They do not share the same molecular features of adult oligodendroglioma, and no previous reports have examined the molecular features of pediatric spinal oligodendroglioma. We present the case of a child with a recurrent spinal anaplastic oligodendroglioma. We performed whole exome (paired tumor and germline DNA) and transcriptome (tumor RNA) sequencing, which revealed somatic mutations in NF1 and FGFR1. These data allowed us to explore potential personalized therapies for this patient and expose molecular drivers that may be involved in similar cases.

Keywords: NF1; anaplastic oligodendroglioma; fibroblast growth factor receptor type 1; molecular sequence data; precision medicine; spinal cord neoplasms.

Publication types

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

MeSH terms

  • Child, Preschool
  • Exome
  • Female
  • Gene Deletion*
  • Humans
  • Neoplasm Proteins* / biosynthesis
  • Neoplasm Proteins* / genetics
  • Neurofibromin 1* / biosynthesis
  • Neurofibromin 1* / genetics
  • Oligodendroglioma* / diagnostic imaging
  • Oligodendroglioma* / genetics
  • Oligodendroglioma* / metabolism
  • Receptor, Fibroblast Growth Factor, Type 1* / biosynthesis
  • Receptor, Fibroblast Growth Factor, Type 1* / genetics
  • Spinal Neoplasms* / diagnostic imaging
  • Spinal Neoplasms* / genetics
  • Spinal Neoplasms* / metabolism
  • Transcriptome

Substances

  • Neoplasm Proteins
  • Neurofibromin 1
  • FGFR1 protein, human
  • Receptor, Fibroblast Growth Factor, Type 1