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山东大学学报 (医学版) ›› 2020, Vol. 58 ›› Issue (7): 96-101.doi: 10.6040/j.issn.1671-7554.0.2020.0014

• 医学心理学 • 上一篇    

髓内弥漫性中线胶质瘤伴H3 K27M突变1例

徐继禧1,2,陈伟健1,3   

  1. 1. 广州中医药大学第一临床医学院, 广东 广州 510405;2. 广州中医药大学第一附属医院脊柱骨科, 广东 广州 510405;3. 江门市五邑中医院脊柱外科, 广东 江门 529000
  • 发布日期:2020-07-10
  • 通讯作者: 陈伟健. E-mail:451189332@qq.com

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
  • Published:2020-07-10

摘要: 目的 探讨髓内弥漫性中线胶质瘤伴H3K27M突变的临床特征及治疗方式。 方法 回顾性分析1例髓内弥漫性中线胶质瘤伴H3K27M突变的诊断及治疗过程,并对相关文献进行复习。 结果 予以手术切除肿瘤,肿瘤组织与脊髓边界不清,尤其是肿瘤与马尾粘连严重,难以完全剥离清除。结合肿瘤的组织学特征、免疫组化、分子检测,诊断为弥漫性中线胶质瘤伴H3K27M突变,符合WHO Ⅳ级。术后患者虽腰背部疼痛较前缓解,但预后极差,最终复发死亡。结合文献复习,该肿瘤主要见于儿童,也见于成人,预后普遍较差。该肿瘤主要浸润于丘脑、脑干和脊髓,也可发现在第三脑室、下丘脑、松果体和小脑。 结论 尽管现代医学有了长足发展,但对该肿瘤仍缺乏有效的治疗手段,2年的总生存率仍然低于10%。

关键词: 弥漫性中线胶质瘤, H3K27M突变, 脊髓

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

中图分类号: 

  • 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.
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