Molecular and clinical characterization of H3 K27M-mutant "non-midline" glioblastoma: A case report and literature review

Neurocirugia (Astur : Engl Ed). 2022 Nov-Dec;33(6):356-360. doi: 10.1016/j.neucie.2021.06.008.

Abstract

The WHO classification of tumors of the CNS in 2016 defined "diffuse midline glioma, H3 K27M-mutant" as a new tumor entity locating in the CNS midline. However, the H3 K27M-mutation in "non-midline" glioblastoma are rare and their characteristics have been rarely reported. A 16-year-old girl presented a hyper-intense lesion at her left temporal stem on T2WI, FLAIR and DWI. Biopsy was performed and molecular pathological diagnosis was glioblastoma with H3 K27M-mutant. Accordingly, the possibility of H3 K27M-mutant should be examined not only for diffuse glioma without IDH mutation that develops at a midline location, but also in non-midline locations.

Keywords: Glioblastoma; H3K27M-mutation; Mutación H3K27M; No línea media; Non-midline.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Adolescent
  • Brain Neoplasms* / diagnostic imaging
  • Brain Neoplasms* / genetics
  • Brain Neoplasms* / pathology
  • Female
  • Glioblastoma* / diagnostic imaging
  • Glioblastoma* / genetics
  • Glioma* / pathology
  • Histones / genetics
  • Humans
  • Mutation

Substances

  • Histones