A case of diffuse midline glioma, H3 K27M mutant mimicking a hemispheric malignant glioma in an elderly patient

Neuropathology. 2020 Feb;40(1):99-103. doi: 10.1111/neup.12609. Epub 2019 Nov 24.

Abstract

Diffuse midline glioma, H3 K27M mutant arises from midline structures of the central nervous system and predominately affects pediatric patients. However, this disease entity was only recently established, and the clinical phenotypic spectrum remains largely unclear. We herein report a rare case of diffuse midline glioma, H3 K27M mutant with an unusual distribution in an elderly woman who presented with a diffuse glioma that invaded both sides of the thalami, and left hippocampus and frontoparietal lobes, thus mimicking a hemispheric malignant glioma. A biopsy of the lobular lesion led to a molecular diagnostic confirmation of diffuse midline glioma, H3 K27M mutant. The patient received concurrent bevacizumab and temozolomide therapy with radiation therapy and survived for 30 months. This case highlights the possibility that a glioma with cerebral hemispheric spread in an elderly patient may harbor the H3 K27M mutation.

Keywords: Glioma; aged patient; biopsy; brain; diffuse midline glioma H3 K27M mutant.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Brain Neoplasms / diagnostic imaging
  • Brain Neoplasms / genetics*
  • Female
  • Glioma / diagnostic imaging
  • Glioma / genetics*
  • Humans
  • Jumonji Domain-Containing Histone Demethylases / genetics*
  • Mutation / genetics*

Substances

  • Jumonji Domain-Containing Histone Demethylases
  • Kdm6b protein, mouse