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Updated: Oct 30, 2025
Live-3D-Cell Immunocytochemistry Assays of Pediatric Diffuse Midline Glioma
Published on: November 11, 2021
Spinal Cord Diffuse Midline Glioma With Histone H3 K27M Mutation in a Pediatric Patient
Ran Cheng1, Da-Peng Li2, Nan Zhang3
1Department of Emergency Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Abstract:
Background: Diffuse midline glioma (DMG) with histone H3 K27M mutation is a recently identified entity documented in the 2016 World Health Organization (WHO) Classification of Tumors of the Central Nervous System. Spinal cord DMGs with H3 K27M-mutant are commonly reported in adults. Herein, we reported a pediatric patient with spinal cord H3 K27M-mutant DMG. Case Report: A 7-year-old girl with 1-month history of neck pain and 3-week history of progressive weakness in the right hand was presented. Spinal magnetic resonance imaging showed an intramedullary lesion with slight enhancement at the C2-7 levels. With intraoperative neuroelectrophysiological monitoring, the lesion was subtotally resected. Histopathological examination revealed a DMG with histone H3 K27M mutation corresponding to WHO grade IV. Postoperatively, the neck pain was relieved, and the upper-extremity weakness remained unchanged. Oral temozolomide was administrated for 7 months, and radiotherapy was performed for 22 courses. After an 18-month follow-up, no tumor recurrence was noted. Conclusion: Spinal cord H3 K27M-mutant DMGs are extremely rare in pediatric patients. Preoperative differential diagnosis is challenging, and surgical resection with postoperative chemoradiotherapy may be an effective treatment.
Insights
Diffuse midline glioma (DMG) with histone H3 K27M mutation is rare in pediatric spinal cords. This case highlights surgical resection and chemoradiotherapy as a potential treatment for this aggressive tumor.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Molecular Pathology
Background:
- Diffuse midline glioma (DMG) with histone H3 K27M mutation is a distinct CNS tumor entity.
- Spinal cord DMGs are more frequently observed in adults.
- This report focuses on an extremely rare pediatric case of spinal cord DMG.
Purpose of the Study:
- To report a rare case of a pediatric patient diagnosed with spinal cord H3 K27M-mutant DMG.
- To discuss the diagnostic challenges and treatment outcomes for this rare condition.
Main Methods:
- A 7-year-old female presented with neck pain and progressive hand weakness.
- Diagnostic imaging included spinal MRI revealing an intramedullary lesion.
- Subtotal tumor resection was performed with intraoperative neurophysiological monitoring.
- Histopathological analysis confirmed DMG with H3 K27M mutation (WHO grade IV).
Main Results:
- Postoperative symptom relief for neck pain; upper extremity weakness persisted.
- The patient received 7 months of oral temozolomide and 22 courses of radiotherapy.
- An 18-month follow-up showed no evidence of tumor recurrence.
Conclusions:
- Spinal cord H3 K27M-mutant DMGs are exceptionally rare in pediatric populations.
- Preoperative diagnosis is challenging.
- Combined surgical resection and adjuvant chemoradiotherapy may represent an effective therapeutic strategy.
