Case Study

Spinal diffuse midline glioma: An unusual case presentation

Nadia Beringer, Kate G. Bennett, Despina Demopoulos, Marelize Reynders, Linda Doedens, Felicia Tshite, Deborah Pearce, Raazik Gani, Dawn-Lee van der Byl, Duvern Ramiah, Pieter E. Boshoff, Christos Profyris, John Ouma, Abhijit Joshi, Simon Bailey
South African Journal of Oncology | Vol 8 | a306 | DOI: https://doi.org/10.4102/sajo.v8i0.306 | © 2024 Nadia Beringer, Kate G. Bennett, Despina Demopoulos, Marelize Reynders, Linda Doedens, Felicia Tshite, Deborah Pearce, Raazik Gani, Dawn-Lee van der Byl, Duvern Ramiah, Pieter E. Boshoff, Christos Profyris, John Ouma, Abhijit Joshi, Simon Bailey | This work is licensed under CC Attribution 4.0
Submitted: 10 July 2024 | Published: 11 October 2024

About the author(s)

Nadia Beringer, Department of Paediatrics, Faculty of Paediatric Oncology, Wits Donald Gordon Medical Centre, Johannesburg, South Africa
Kate G. Bennett, Department of Paediatrics, Faculty of Paediatric Oncology, Wits Donald Gordon Medical Centre, Johannesburg, South Africa
Despina Demopoulos, Department of Paediatrics, Paediatric Intensive Care Unit, Wits Donald Gordon Medical Centre, Johannesburg, South Africa
Marelize Reynders, Department of Paediatrics, Paediatric Intensive Care Unit, Wits Donald Gordon Medical Centre, Johannesburg, South Africa
Linda Doedens, Department of Paediatrics, Paediatric Intensive Care Unit, Wits Donald Gordon Medical Centre, Johannesburg, South Africa
Felicia Tshite, Department of Ear, Nose and Throat Care, Wits Donald Gordon Medical Centre, Johannesburg, South Africa; and Department of Ear, Nose and Throat Care, Netcare Milpark Hospital, Johannesburg, South Africa
Deborah Pearce, Department of Paediatrics, Faculty of Paediatric Neurology, Wits Donald Gordon Medical Centre, Johannesburg, South Africa
Raazik Gani, Department of Intensive Care, Adult Intensive Care Unit, Netcare Milpark Hospital, Johannesburg, South Africa
Dawn-Lee van der Byl, Department of Anatomical Pathology, Drs Gritzman and Thatcher Inc. Laboratories, Johannesburg, South Africa
Duvern Ramiah, Department of Radiation, Faculty of Radiation Oncology, Wits Donald Gordon Medical Centre, Johannesburg, South Africa; Department of Radiation Oncology, Netcare Milpark Hospital, Johannesburg, South Africa; and Division of Radiation Oncology, Faculty of Health Sciences, School of Clinical Medicine, University of the Witwatersrand, Johannesburg, South Africa
Pieter E. Boshoff, Department of Radiology, Wits Donald Gordon Medical Centre, Johannesburg, South Africa
Christos Profyris, Department of Neurosurgery, Netcare Milpark Hospital, Johannesburg, South Africa
John Ouma, Department of Neurosurgery, Wits Donald Gordon Medical Centre, Johannesburg, South Africa; Department of Neurosurgery, Faculty of Health Sciences, School of Clinical Medicine, University of the Witwatersrand, Johannesburg, South Africa
Abhijit Joshi, Department of Cellular Pathology, Great North Children’s Hospital, Newcastle, United Kingdom
Simon Bailey, Department of Paediatrics, Faculty of Paediatric Neuro-Oncology, Great North Children’s Hospital, Newcastle, United Kingdom

Abstract

Primary spinal cord neoplasms are rare, accounting for 1% of paediatric central nervous system tumours. The majority of which are low-grade gliomas (LGG). A teenage male presented with rapidly progressive lower limb paralysis. He subsequently underwent a near-total resection of an intramedullary thoracic tumour. Although the initial histopathology report suggested a LGG, closer review of the morphology and immunohistochemical staining revealed a diffusely infiltrating high-grade astrocytoma. Methylation profiling later confirmed a H3K27M-mutated spinal DMG. He underwent spinal radiation to the tumour bed soon after surgery but succumbed to his disease 8 days after completing radiation, and 3 months after presentation.

Conclusion: Spinal DMGs are rare, can lead to diagnostic challenges and have a poor prognosis.


Keywords

midline CNS tumours; diffuse midline glioma; high-grade gliomas; Spinal H3K27M-altered DMG; methylation profiling; IMRT

Sustainable Development Goal

Goal 3: Good health and well-being

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