Spinal Cord Diffuse Midline Glioma With Histone H3 K27M Mutation in a Pediatric Patient

Ran Cheng; Da-Peng Li; Nan Zhang; Ji-Yin Zhang; Di Zhang; Ting-Ting Liu; Jun Yang; Ming Ge

doi:10.3389/fsurg.2021.616334

Spinal Cord Diffuse Midline Glioma With Histone H3 K27M Mutation in a Pediatric Patient

Front Surg. 2021 Jun 17:8:616334. doi: 10.3389/fsurg.2021.616334. eCollection 2021.

Authors

Ran Cheng¹, Da-Peng Li², Nan Zhang³, Ji-Yin Zhang⁴, Di Zhang², Ting-Ting Liu¹, Jun Yang⁵, Ming Ge²

Affiliations

¹ Department of Emergency Surgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
² Department of Neurosurgery, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
³ Department of Pathology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
⁴ Department of Otolaryngology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing, China.
⁵ Department of Neurosurgery, Peking University Third Hospital, 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.

Keywords: H3K27 mutation; diffuse midline gliomas; pathology; pediatric neurosurgery; spinal cord tumors.