Pediatric Gliosarcoma With and Without Neurofibromatosis Type 1: A Whole-exome Comparison of 2 Patients

J Pediatr Hematol Oncol. 2021 Nov 1;43(8):e1201-e1204. doi: 10.1097/MPH.0000000000002020.

Abstract

Gliosarcoma is rare among pediatric patients and among individuals with Neurofibromatosis Type 1 (NF1). Here we compare 2 pediatric gliosarcoma patients, one of whom has NF1. We performed whole-exome sequencing, methylation, and copy number analysis on tumor and blood for both patients. Whole-exome sequencing showed higher mutational burden in the tumor of the patient without NF1. Copy number analysis showed differences in chromosomal losses/gains between the tumors. Neither tumor showed O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation. The NF1 patient survived without progression while the other expired. This is the first reported case of gliosarcoma in a child with NF1.

Publication types

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

MeSH terms

  • Child
  • DNA Modification Methylases / genetics*
  • DNA Repair Enzymes / genetics*
  • Exome Sequencing / methods*
  • Exome*
  • Female
  • Gliosarcoma / complications
  • Gliosarcoma / genetics
  • Gliosarcoma / pathology*
  • Humans
  • Male
  • Mutation*
  • Neurofibromatosis 1 / complications
  • Neurofibromatosis 1 / genetics
  • Neurofibromatosis 1 / pathology*
  • Prognosis
  • Promoter Regions, Genetic
  • Tumor Suppressor Proteins / genetics*

Substances

  • Tumor Suppressor Proteins
  • DNA Modification Methylases
  • MGMT protein, human
  • DNA Repair Enzymes