Spinal intramedullary H3K27M mutant glioma with vertebral metastasis: a case report

Childs Nerv Syst. 2021 Mar 19. doi: 10.1007/s00381-021-05119-6. Online ahead of print.


A new entity of gliomas, named "diffuse midline glioma (DMG), H3K27M mutant (grade IV)," which represents a specific molecular profile, was introduced to the World Health Organization (WHO) classification 2016 of central nervous system tumors. Many midline localizations have been described for this glioma, and mainly the hypothalamus, pons, thalamus, and spinal cord are sites of predilection in pediatric and young adult patients. We report the case of spinal intramedullary DMG, H3K27M mutant (WHO grade IV), that showed an unusual presentation with multiple vertebral metastases.

Keywords: H3K27M; High-grade glioma; Midline glioma; Vertebral metastasis.