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

Previous Articles     Next Articles

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

PDF (PC)

275

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
[1] Wang K, Zhang S, Shi L, et al. The 2016 World Health Organization classification of tumors of the central nervous system: a summary [J]. Acta Neuropathologica, 2016, 131(6): 803.
[2] Solomon DA, Wood MD, Tihan T, et al. Diffuse midline gliomas with histone H3-K27M mutation: a series of 47 cases assessing the spectrum of morphologic variation and associated genetic alterations [J]. Brain Pathology, 2016, 26(5): 569-580.
[3] Chiang JC, Ellison DW. Molecular pathology of paediatric central nervous system tumours [J]. J Pathol, 2017, 241(2): 159-172.
[4] Castel D, Philippe C, Calmon R, et al. Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes [J]. Acta Neuropathologica, 2015, 130(6): 815.
[5] 郭伟, 邢振, 林禹, 等. 弥漫性中线胶质瘤H3K27M突变型多模态MRI表现[J]. 中国医学影像技术, 2019, 35(2): 31-35. GUO Wei, XING Zhen, LIN Yu, et al. Multimodal MRI manifestations of diffuse midline glioma,H3 K27M mutant[J]. Chinese Journal of Medical Imaging Technology, 2019, 35(2): 31-35.
[6] 叶海, 何品, 孙艳花, 等. 弥漫性中线胶质瘤伴H3K27M突变四例报告并文献复习[J]. 影像诊断与介入放射学, 2018, 27(5): 46-49. YE Hai, HE Pin, SUN Yanhua, et al. Diffuse midline glioma with H3 K27M mutation:4 case reports and review of literature[J]. Diagnostic Imaging & Interventional Radiology, 2018, 27(5): 46-49.
[7] Meyronet D, Estebanmader M, Bonnet C, et al. Characteristics of H3 K27M-mutant gliomas in adults [J]. Neuro Oncol, 2017, 19(8): 1127-1134.
[8] Jansen MH, Veldhuijzen van Zanten SE, Sanchez Aliaga E, et al. Survival prediction model of children with diffuse intrinsic pontine glioma based on clinical and radiological criteria [J]. Neuro Oncology, 2015, 17(1): 160-166.
[9] Sturm D, Witt H, Hovestadt V, et al. Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma [J]. Cancer Cell, 2012, 22(4): 425.
[10] Eckel-Passow JE, Lachance DH, Molinaro AM, et al. Glioma groups based on 1p/19q, IDH, and TERT promoter mutations in tumors [J]. N Engl J Med, 2015, 372(26): 2499-2508.
[11] Brat DJ, Verhaak RGW, Aldape KD, et al. Comprehensive, integrative genomic analysis of diffuse lower-grade gliomas[J]. N Engl J Med, 2015, 372(26): 2481-2498.
[12] Mackay A, Burford A, Carvalho D, et al. Integrated molecular meta-analysis of 1000 pediatric high-grade and diffuse intrinsic pontine glioma [J]. Cancer Cell, 2017, 32(4): 520-537.
[13] Sturm D, Bender S, Jones DT, et al. Paediatric and adult glioblastoma: multiform(epi)genomic culprits emerge[J]. Nat Rev Cancer, 2014, 14(2): 92-107.
[14] Nikbakht H, Panditharatna E, Mikael LG, et al. Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma [J]. Nat Commun, 2016, 7: 11185. doi: 10.1038/ncomms11185.
[15] Buczkowicz P, Hoeman C, Rakopoulos, et al. Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations [J]. Nat Genet, 2014, 46(5): 451-456.
[16] Orillac C, Thomas C, Dastagirzada Y, et al. Pilocytic astrocytoma and glioneuronal tumor with histone H3 K27M mutation [J]. Acta Neuropathol Commun, 2016, 4(1): 84. doi: 10.1186/s40478-016-0361-0.
[17] Hochart A, Escande F, Rocourt N, et al. Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma [J]. Ann Clin Transl Neurol, 2015, 2(4): 439-443
[18] Chamdine O, Gajjar A. Molecular characteristics of pediatric high-grade gliomas [J]. Cns Oncology, 2014, 3(6): 433-443.
[19] Karremann M, Gielen GH, Hoffmann M, et al. Diffuse high-grade gliomas with H3 K27M mutations carry a dismal prognosis independent of tumor location [J]. Neuro Oncol, 2018, 20(1): 123-131.
[20] 梁博, 梁庭毓, 王芳, 等. 弥漫性中线胶质瘤伴H3 K27M突变的临床诊疗及预后分析[J]. 中国微侵袭神经外科杂志, 2019(7): 299-302. LIANG Bo, LIANG Tingshu, WANG Fang, et al. Clinical diagnosis,treatment and prognosis analysis of diffuse midline glioma with H3 K27M mutation[J].Chinese Journal of Minimally Invasive Neurosurgery, 2019(7): 299-302.
[21] Hargrave D, Bartels U, Bouffet E. Diffuse brainstem glioma in children: critical review of clinical trials [J]. Lancet Oncology, 2006, 7(3): 241.
[22] Vanan MI, Eisenstat DD. DIPG in children-what can we learn from the past? [J]. Front Oncol, 2015, 5: 237. doi: 10.3389/fonc.2015.00237.
[23] Bender S, Tang Y, Lindroth AM, et al. Reduced H3 K27me3 and DNA hypomethylation are major drivers of gene expression in K27M mutant pediatric high-grade gliomas [J]. Cancer Cell, 2013, 24(5): 660-672.
[1] LIU Dong, ZHU Dongyun, PENG Changliang, ZHANG Cheng, ZHAO Jie, GAO Chunzheng. Construction and appraisal of hyaluronic acid hydrogel scaffold in the treatment of treat spinal cord injury [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2017, 55(9): 53-59.
[2] CHEN Lei, LIU Dongxiao, LI Kaiming, SONG Xinqiang, ZENG Xiansi, JIANG Lijie. Uniaxial-channel collagen scaffolds loaded with CBD-BDNF improves the recovery of rat spinal cord injury [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2017, 55(5): 43-48.
[3] LI Hongzhi, LIU Jing, SONG Yan, CHI Lingyi, LIU Yuguang. Role of liraglutide in the repair of spinal cord injury [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2016, 54(4): 1-5.
[4] MOU Le-ming1， SUN Zhan-sheng1， WANG Bo-min1， GAO Ping2， CHU-Xiang-quan3. Effects of bone marrow mesenchymal stem cells transplantation on the expression of  Toll-like receptor 4 in injured spinal cord of rats [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2014, 52(1): 37-41.
[5] LI Xu, QIN Dong-jing, CAO Xin-shan, JIANG Xing-yue, ZHANG Di， WANG Jing. The correlation between features of DTI and JOA scores in patients with cervical spinal cord injury without radiographic abnormality [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2013, 51(1): 83-87.
[6] LIU Yang, MIAO Yu-chuan. Influence of zibu piyin recipe on expression of brain-derived
neurotrophic factor after spinal cord injury in rats [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2012, 50(10): 33-36.
[7] YANG Hong-wei1, WANG Xiang-yu2. COX-2 mediates changes of LPS-induced spinal long-term potentiation [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2012, 50(1): 15-18.
[8] LIU Xiao-yang, SUN Jian-min, CUI Xin-gang, JIANG Zhen-song. Protective effect of intrathecal administration of VEGF on nerve fibers and  neurons after spinal cord injury in rats [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2011, 49(4): 38-42.
[9] ZHAO Wei. Effects of electro-acupuncture on expression of  CSPGs after spinal cord injury [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2011, 49(3): 73-.
[10] ZHAO Wei. Effects of electro-acupuncture on expression of  CSPGs after spinal cord injury [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2011, 49(3): 73-.
[11] . Role of Src kinase and NR2B in D1/D5 receptor agonist-induced spinal LTP [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2011, 49(2): 5-8.
[12] ZHU Jun-de1, YU Zi-jiang1，LIU Xian-lin2, CHANG Ao-shuang2. Structure change of complete transected spinal   injury at different times in rats [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2011, 49(1): 43-47.
[13] NING Bin1, ZHANG Aijun2, JIA Tanghong1, SONG Hongliang1, GUO Shuya1, GONG Weiming1. Inhibitory effect of recombinant human erythropoietin on motor neuron apoptosis  during cervical chronic spinal cord compression in rats [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2010, 48(4): 59-63.
[14] YUAN Yujing, FU Zhijian, SUN Tao. Influence of two media on spinal neurons in vitro [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2009, 47(04): 65-68.
[15] LIU Yang, JIA Tanghong, GONG Weiming, NING Bin, GUO Shuya,
SONG Hongliang, XU Peng, ZHANG Tao, ZHANG Laibo
.

A rat model for studying water and sodium metabolism following cervical spinal cord injury

[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2009, 47(03): 53-55.
Viewed
Full text


Abstract

Cited
  Shared   
  Discussed   
[1] SHI Shuang, LI Juan, MI Qi, WANG Yunshan, DU Lutao, WANG Chuanxin. Construction and application of a miRNAs prognostic risk assessment model of gastric cancer[J]. Journal of Shandong University (Health Sciences), 2020, 1(7): 47 -52 .
[2] JIANG Bao-dong,MA Xiang-xing,WANG Qing,WANG Qian,FENG Xiao-yuan,LI Ke,YU Fu-hua. Imaging parameters of multislice spiral CT venography in cerebral veins[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2008, 46(11): 1084 -1086 .
[3] HUANG Fei,WANG Huaijing,XING Yi,GAO Wei,LI Yonggang,XING Ziying,LI Zhenzhong. Protective effects of NGF and GM1 on primary sensory neurons in SD rat with sciatic nerve injury[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2006, 44(4): 332 -335 .
[4] LYU Longfei, LI Lin, LI Shuhai, QI Lei, LU Ming, CHENG Chuanle, TIAN Hui. Application of laparoscopic fine needle catheter jejunostomy in minimally invasive McKeown resection of esophageal cancer[J]. Journal of Shandong University (Health Sciences), 2020, 1(7): 77 -81 .
[5] SHAO Haigang, WANG Xuan, WANG Qing. Anatomy of the root canal system of mandibular first premolar in population of Shandong Province[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2014, 52(9): 85 -89 .
[6] LI Wei,LI Dao-wei,YE Qian,GAO Shun-cui,JIANG Shu-juan.

Diagnostic value of transbronchial needle aspiration in paratracheal mediastinal lesions

[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2008, 46(11): 1063 -1065 .
[7] LI Yu-liang,WANG Yong-zheng,WANG Xiao-hua,ZHANG Fu-jun,ZHU Li-dong,ZHANG Wang-ming,LI Zheng,LI Zhen-jia,ZHANG Kai-xian. I implantation combined with Gemcitabine in the treatment of advanced pancreatic cancer[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2007, 45(4): 393 -396 .
[8] . [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2007, 45(10): 1078 -1080 .
[9] TANG Fang1,2, ZHANG Yingqian3, WANG Zhiqiang4, KANG Dianmin4,
WANG Jiezhen1, XUE Fuzhong1. A 2D minimal spanning tree model of the spatial structures of natural focal disease[J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2009, 47(01): 106 -110 .
[10] WANG Xu-ping,ZHAO Ling,FENG Yu-xin,SHANG Lin-shan,LIU Jin-cheng,. [J]. JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES), 2006, 44(6): 564 -567 .
Copyright 2018 © Editorial office of Journal of Shandong University (Health Sciences)
Supported by Beijing Magtech Co.Ltd