Journal of Shandong University (Health Sciences) ›› 2020, Vol. 1 ›› Issue (7): 96-101.doi: 10.6040/j.issn.1671-7554.0.2020.0014

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Diffuse midline glioma with H3 K27M mutation in the spinal cord: a case report

XU Jixi1,2, CHEN Weijian1,3   

  1. 1. First Clinical Medical College, Guangzhou University of Chinese Medicine, Guangzhou 510405, Guangdong, China;
    2. Department of Spinal Orthopedics, The First Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou 510405, Guangdong, China;
    3. Department of Spinal Surgery, Wuyi Hospital of Traditional Chinese Medicine, Jiangmen 529000, Guangdong, China
  • Online:2020-07-20 Published:2020-07-10

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Abstract: Objective To explore the clinical characteristics and treatment of diffuse midline glioma with H3K27M mutation. Methods The diagnosis and treatment of a case of diffuse midline glioma with H3K27M mutation were retrospectively analyzed and relevant literature was reviewed. Results The tumor was resected. The boundary between tumor tissues and spinal cord was unclear. The adhesion between tumor and cauda equina was especially hard to strip. Based on the histological characteristics, immunohistochemistry and molecular identification, the tumor was diagnosed as WHO IV diffuse midline glioma with H3K27M mutation. Although the patients back pain was relieved after operation, the prognosis was very poor, and the patient finally died of relapse. Literature review indicated the glioma was primarily found in children and occasionally seen in adults with poor prognosis. The glioma mainly infiltrated the thalamus, brainstem and spinal cord, sometimes the third ventricle, hypothalamus, pineal body and cerebellum. Conclusion Effective treatment of the glioma remains to be explored in spite of advances in modern therapies. The glioma is universally fatal and the 2-year overall survival rate is below 10%.

Key words: Diffuse midline glioma, H3 K27M mutation, Spinal cord

CLC Number: 

  • R739.4
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