Atypical Molecular Features of Pediatric Tectal Glioma: A Single Institutional Series

J Pediatr Hematol Oncol. 2023 Apr 1;45(3):e410-e414. doi: 10.1097/MPH.0000000000002596. Epub 2022 Nov 22.

Abstract

We present 4 children (diagnosed between 1 and 8 y, 3 females and 1 male) with molecularly distinct tectal gliomas (2 KRAS mutant, 1 EGFR mutant, 1 SRGAP3-RAF-1 fusion) that contributes to the growing literature of this uncommonly biopsied tumor. The patient with EGFR R222C mutation had a more severe course, earlier diagnosis, subsequent leptomeningeal metastatic disease, required more aggressive therapies, and died 9 years after diagnosis. Patients with KRAS mutations and SRGAP3-RAF-1 fusion had a more indolent course. Our series expands the molecular phenotype of tectal glioma with the potential for leptomeningeal dissemination. Future studies on establishing genotypic/phenotypic correlation from those who undergo biopsy are needed.

MeSH terms

  • Brain Neoplasms* / genetics
  • Brain Stem Neoplasms* / diagnosis
  • Brain Stem Neoplasms* / genetics
  • Brain Stem Neoplasms* / pathology
  • ErbB Receptors / genetics
  • Female
  • Glioma* / genetics
  • Glioma* / pathology
  • Humans
  • Male
  • Mutation
  • Proto-Oncogene Proteins p21(ras) / genetics

Substances

  • Proto-Oncogene Proteins p21(ras)
  • ErbB Receptors