H3 G34突变型弥漫性半球胶质瘤临床和病理学特征分析  

Analysis of clinicopathological features of diffuse hemispheric glioma with H3 G34-mutant

作　　者：邹婉婧 崔云[1] 何艳姣[1] 刘幸 刘玉清 柴睿超 刘震 杜江[1] Zou Wanjing;Cui Yun;He Yanjiao;Liu Xing;Liu Yuqing;Chai Ruichao;Liu Zhen;Du Jiang(Center of Neuropathology,Beijing Institute of Neurosurgery,Beijirig Tiantan Hospital,Capital Medical University,Beijing 100070,China;Department of Neuropathology,Beijing Shunyi Hospital,Beijing 101300,China)

机构地区：[1]首都医科大学,北京市神经外科研究所,首都医科大学附属北京天坛医院神经病理中心,100070 [2]北京市顺义区医院神经外科,101300

出　　处：《中华神经外科杂志》2021年第11期1090-1096,共7页Chinese Journal of Neurosurgery

摘　　要：目的探讨H3 G34突变型弥漫性半球胶质瘤(DHG-G34)的临床和病理学特征。方法回顾性分析2016年1月至2020年1月首都医科大学附属北京天坛医院神经外科收治的6例DHG-G34患者的临床资料。6例患者术前均行头颅MRI增强扫描,其中4例行肿瘤切除术,另2例行立体定向活组织检查术。行肿瘤切除术的4例患者术后复查头颅MRI,判断肿瘤的切除程度。对所有患者行电话随访,询问患者术后治疗情况和生存状态。对肿瘤组织标本行HE染色、免疫组织化学染色及基因检测。结果6例患者中位年龄为18岁(14〜34岁),男性占优势(5/6);病变均位于大脑半球,呈单灶性(3/6)或多灶性(3/6);增强扫描显示无明显强化(2/6)或轻度不均匀强化(4/6)。行肿瘤切除术的4例患者术后复查头颅MRI,均为次全切除。5例(5/6)患者获得随访,中位随访时间为21个月(16~30个月);术后均同步行放、化疗。至末次随访,3例死亡,2例存活。HE染色的组织学诊断结果为,间变性星形细胞瘤3例(3/6),胶质母细胞瘤3例(3/6);其中表现单一高级别胶质瘤形态的4例(4/6),混有原始神经元成分的2例(2/6)。免疫组织化学染色结果显示,6例患者的肿瘤细胞均弥漫表达突变型H3 G34R、胶质纤维酸性蛋白(GFAP)、H3K27me3,过表达P53,均不表达少突胶质细胞转录因子2(Olig2)和α地中海贫血伴智力低下综合征X连锁(ATRX),而突触素(Syn)局灶性中等强度表达(2/6)。4例行肿瘤切除术的患者基因检查结果显示,均无异梓檬酸脱氢酶(IDH)1/2、端粒酶反转录酶启动子(IERT)C228T/C250T及BRAF-V600E基因突变,其中2例(2/4)存在O^(6)-甲基鸟嘌呤-DNA-甲基转移酶启动子(MGMT)甲基化。结论DHG-G34多见于大脑半球,可呈多灶性生长,MRI强化不明显;组织病理学具有异质性,但分子病理学改变一致;患者预后差。Objective To explore the clinical and pathological characteristics of diffuse hemispheric glioma,H3 G34-mutant(DHG-G34).Methods A retrospective analysis was conducted on the clinical data of 6 DHG-G34 patients admitted to the Department of Neurosurgery,Beijing Tiantan Hospital,Capital Medical University from January 2016 to January 2020.Six patients underwent enhanced MRI scan before operation,4 of them underwent tumor resection,and the other 2 underwent stereotactic biopsy.Postoperative re-examination of head MRI was performed to determine the extent of tumor resection.All patients were followed up by telephone and inquired about their postoperative treatment and survival status.HE staining,immunohistochemical staining and genetic testing were performed on tumor tissue specimens.Results The median age of the 6 patients was 18 years old(14-34 years old)who were mostly males(5/6).The lesions were all located in the cerebral hemisphere,with single focus(3/6)or multiple focus(3/6).The scan showed no obvious enhancement(2/6)or slight uneven enhancement(4/6).The postoperative head MRI of the 4 patients who underwent tumor resection indicated subtotal resection.Five patients(5/6)were followed up.The median follow-up time was 21 months(16-30 months).All patients received concurrent radiotherapy and chemotherapy.At the last follow-up,3 cases died and 2 cases survived.Histological diagnosis under HE staining microscope included 3 cases(3/6)of anaplastic astrocytoma and 3 cases(3/6)of glioblastoma.Among them,4 cases(4/6)showed merely high-grade glioma morphology and 2 cases(2/6)showed the mixture with primitive neuron components.The results of immunohistochemical staining showed that the tumor cells all expressed mutant H3 G34R,glial fibrillary acidic protein(GFAP),H3K27me3 orerexpresse p53,and none of them expressed oligodendrocyte transcription factor 2(Olig2)or α-thalassemia with retarded intelligence syndrome X linkage(ATRX),while synaptophysin(Syn)was focally expressed at moderate levels(2/6).The results of genetic e

关 键 词：神经胶质瘤 病理学 疾病特征 预后 组蛋白3变体(H3.3) 

分 类 号：R739.41[医药卫生—肿瘤]