A rare case of H3K27-altered diffuse midline glioma with multiple osseous and spinal metastases at the time of diagnosis

A Kaywan Aftahy; Vicki M Butenschoen; Lisa Hoenikl; Friederike Liesche-Starnecker; Benedikt Wiestler; Friederike Schmidt-Graf; Bernhard Meyer; Jens Gempt

doi:10.1186/s12883-023-03135-4

A rare case of H3K27-altered diffuse midline glioma with multiple osseous and spinal metastases at the time of diagnosis

BMC Neurol. 2023 Feb 28;23(1):87. doi: 10.1186/s12883-023-03135-4.

Authors

A Kaywan Aftahy^#¹, Vicki M Butenschoen^#², Lisa Hoenikl², Friederike Liesche-Starnecker³, Benedikt Wiestler⁴, Friederike Schmidt-Graf⁵, Bernhard Meyer², Jens Gempt²

Affiliations

¹ Department of Neurosurgery, School of Medicine, Medical Faculty, Klinikum rechts der Isar, Technical University Munich, Ismaninger Str. 22, 81675, Munich, Germany. kaywan.aftahy@tum.de.
² Department of Neurosurgery, School of Medicine, Medical Faculty, Klinikum rechts der Isar, Technical University Munich, Ismaninger Str. 22, 81675, Munich, Germany.
³ Department of Neuropathology, School of Medicine, Institute of Pathology, Technical University of Munich, Munich, Germany.
⁴ Department of Neuroradiology, School of Medicine, Technical University of Munich, Munich, Germany.
⁵ Neurological Department, School of Medicine, Technical University of Munich, Munich, Germany.

^# Contributed equally.

Abstract

Background: H3K27-altered diffuse midline gliomas are uncommon central nervous system tumors with extremely poor prognoses.

Case presentation: We report the case of a 24-year-old man patient with multiple, inter alia osseous metastases who presented with back pain, hemi-hypoesthesia, and hemi-hyperhidrosis. The patient underwent combined radio-chemotherapy and demonstrated temporary improvement before deteriorating.

Conclusions: H3K27-altered diffuse midline glioma presents an infrequent but crucial differential diagnosis and should be considered in cases with rapid neurological deterioration and multiple intracranial and intramedullary tumor lesions in children and young adults. Combined radio-chemotherapy delayed the neurological deterioration, but unfortunately, progression occurred three months after the diagnosis.

Keywords: Diffuse midline Glioma; Extraneural metastases; H3K27M; Neuro-oncology.

Publication types

Case Reports

MeSH terms

Adult
Antineoplastic Combined Chemotherapy Protocols
Bone and Bones
Child
Diagnosis, Differential
Glioma*
Humans
Male
Spinal Neoplasms* / complications
Spinal Neoplasms* / diagnostic imaging
Young Adult