伴有H3K27M突变的脊髓弥漫中线胶质瘤临床病理学分析  

Diffuse midline glioma of spinal cord with H3K27M-mutation:a clinicopathological analysis

作　　者：姚晶晶[1] 马东林[1] 赵静[1] 肖颖[1] 尹洪芳[1] Yao Jingjing;Ma Donglin;Zhao Jing;Xiao Ying;Yin Hongfang(Department of Pathology,Affiliated Beijing Tsinghua Changgung Hospital,Tsinghua University,Beijing 102218,China)

机构地区：[1]清华大学附属北京清华长庚医院病理科,102218

出　　处：《中华病理学杂志》2019年第6期448-452,共5页Chinese Journal of Pathology

基　　金：北京清华长庚医院青年启动基金(12016C1008).

摘　　要：目的探讨H3K27M基因突变在脊髓胶质瘤中的作用,特别是其与脊髓胶质瘤分级、预后的相关性。方法收集2014年11月至2016年8月就诊于清华大学附属北京清华长庚医院的24例脊髓胶质瘤患者的临床资料,年龄范围3~66岁。男性13例,女性11例。对所有病例重新进行组织学分级,并行免疫组织化学H3K27M染色及H3基因检测,观察脊髓胶质瘤H3基因突变情况,分析H3基因突变与脊髓胶质瘤组织学分级、预后的相关性,归纳总结脊髓胶质瘤H3基因突变组的发病特征,并复习相关文献。结果24例脊髓胶质瘤中11例出现H3.3K27M基因突变,与免疫组织化学阳性表达病例完全吻合,突变组胶质瘤组织学分级均为高级别胶质瘤,患者平均年龄(30.0±11.5)岁,男女比例7∶4。野生组13例,其中高级别胶质瘤4例;患者平均年龄(31.3±22.4)岁,男女比例6∶7。突变组肿瘤好发于颈4~7及胸11~12,下胸段(胸11~12)肿瘤发生率较野生组高。随访所有患者,突变组11例患者,中位生存期19.5个月。野生组仅1例死亡,无法计算中位生存期,但统计学结果显示两组总生存期差异有统计学意义(P<0.05)。结论伴有H3K27M突变的脊髓胶质瘤与高级别胶质瘤有相关性,突变组患者预后不良。Objective To investigate the role of H3K27M mutant in spinal cord glioma,specifically the correlation between H3K27M mutation and histological grade or prognosis.Methods Twenty-four cases of paraffin-embedded spinal cord glioma tissues and clinical data were collected from November 2014 to August 2016 at the Beijing Tsinghua Changgung Hospital.There were 13 males and 11 females,and the age ranged from 3 to 66 years.All the cases were reviewed histologically,and immunohistochemical H3K27M staining and H3 gene detection were performed.The correlation between H3 gene mutation and histological grading and prognosis of spinal cord gliomas were investigated and relevant literature reviewed.Results Eleven of 24 cases showed H3K27M gene mutation,and was concordant with the result of immunohistochemistry.Gliomas in the mutant group were all high-grade gliomas with mean patients′age of(30.0±11.5)years,and a male to female ratio of 7:4.Thirteen cases were wild-type,and these included four high-grade gliomas,with mean patients′age(31.3±22.4)years,and a male to female ratio of 6∶7.The tumors in the mutant group were mainly located in cervical 4-7 and thoracic 11-12 segments,respectively,and the incidence of tumors in the lower thoracic segments(thoracic 11-12)was higher than that in the wild type group.Outcome data were available for all patients.The median survival of mutant group was 19.5 months,but most patients in the wild-type group were alive at the end of the follow-up period.Conclusion Gliomas of spinal cord with H3K27M mutation are high-grade and the prognosis of patients is poor.

关 键 词：脊髓肿瘤 神经胶质瘤 DNA突变分析 H3K27M突变 

分 类 号：R739.4[医药卫生—肿瘤]