弥漫性中线胶质瘤伴H3K27改变的临床影像学及病理学特征分析  

Clinical imaging and pathological features of diffuse midline gliomas with H3K27 alteration

作　　者：范国锋 王泽宁 马倩[1] 李世明 周庆九[1] 刘波[1] 汪永新[1] 付强[1] Fan Guofeng;Wang Zening;Ma Qian;Li Shiming;Zhou Qingjiu;Liu Bo;Wang Yongxin;Fu Qiang(Department of Neurosurgery,the First Affiliated Hospital of Xinjiang Medical University,Urumqi 830054,China)

机构地区：[1]新疆医科大学第一附属医院神经外科,乌鲁木齐830054

出　　处：《中华神经外科杂志》2025年第1期57-62,共6页Chinese Journal of Neurosurgery

基　　金：新疆神经系统疾病研究重点实验室项目(XJDX1711-2202,XJDX1711-2204);新疆维吾尔自治区科学技术厅自然科学基金(2022D01C257)。

摘　　要：目的探讨弥漫性中线胶质瘤(DMG)伴H3K27改变的临床影像及病理学特点。方法回顾性收集2017年10月至2024年7月新疆医科大学第一附属医院神经外科诊治的21例DMG伴H3K27改变患者的临床资料。采用CT、MRI及磁共振波谱(MRS)成像检测肿瘤影像学特征;采用免疫组织化学染色检测并分析肿瘤组织的病理学特征;应用特异性试剂盒检测患者相关基因突变特征。结果21例患者的术前影像学结果显示,肿瘤主要发生于脑干(8例)、丘脑及侧脑室(7例)等中线部位。肿瘤组织通常表现为边界不清的结节样或片状团块,CT上可表现为等密度(42.9%,9/21)、混杂密度(23.8%,5/21)、稍高(19.0%,4/21)、稍低(14.3%,3/21)密度影;MRI显示稍长T1混杂信号或长T1信号,稍长T2混杂信号或长T2信号,液体衰减反转恢复序列(FLAIR)或弥散加权成像(DWI)等或高信号;增强MRI出现明显环状(28.6%,6/21)、结节样(38.1%,8/21)、片状强化(19.0%,4/21)。MRS分析显示,66.7%(14/21)的患者均表现为N-乙酰天冬氨酸(NAA)峰明显降低、胆碱(Cho)峰增高、肌酸(Cr)峰降低、NAA/Cho降低、NAA/Cr降低。免疫组织化学染色显示,21例患者的H3K27M染色均为阳性,肿瘤细胞胞核呈弥漫阳性或"斑驳状"样、"马赛克"样阳性,相对应的H3K27Me表达往往缺失或者下降;21例患者的神经胶质原纤维酸性蛋白质表达均为阳性,异柠檬酸脱氢酶1表达均为阴性;90.5%(19/21)患者的H3K27Me3表达下降或缺失,23.8%(5/21)患者的α-地中海贫血伴智力低下综合征基因缺失,81%(17/21)患者的少突胶质细胞转录因子2表达阳性,Ki-67增殖指数为1%~15%。基因检测显示,9.5%(2/21)患者的表皮生长因子受体基因突变,9.5%(2/21)患者的细胞周期蛋白依赖的激酶抑制剂2A基因缺失。结论DMG伴H3K27改变患者的MRI T1、T2、FLAIR、DWI信号具有一定的特征,增强扫描后肿瘤表现为环状、结节样、片状强化,有助于该病的鉴别;患者MRS影像学�Objective To investigate the clinical imaging and pathological features of diffuse midline glioma(DMG)with H3K27 changes.Methods Clinical data of 21 patients with DMG combined with H3K27 changes were collected.CT,MRI and magnetic resonance spectroscopy(MRS)imaging were used for tumor imaging detection,immunohistochemical staining were used for pathological detection,and atopic kit was used for related gene detection.Results Preoperative imaging results of the 21 patients showed that the tumors mainly occurred in the brain stem(8 cases),thalamus and lateral ventricle(7 cases)and other midline sites.The tumor tissue usually presented as nodular or flaky mass with unclear boundary,which showed isodensity(42.9%,9/21),mixed density(23.8%,5/21),slightly higher density(19.0%,4/21),and slightly lower density(14.3%,3/21)on CT.MRI showed slightly longer T1 mixed signals or long T1 signals,slightly longer T2 mixed signals or long T2 signals,FLAIR or DWI equal or high signals.After contrast enhancement,there were obvious annular(28.6%,6/21),nodular(38.1%,8/21),patchy enhancement(19.0%,4/21).MRS analysis showed that 66.7%(14/21)patients showed significantly lower N-acetylaspartic acid(NAA)peak,higher choline(Cho)peak,lower creatine(Cr)peak,lower NAA/Cho,and lower NAA/Cr.Immunohistochemical staining showed that H3K27M staining was positive in all the 21 patients,and the nuclei of tumor cells were diffuse positive or"mottled"or"Mosaic"positive,and the corresponding H3K27Me expression was often missing or decreased.The expression of glial fibrillary acidic protein was positive in all 21 patients,and isocitrate dehydrogenase 1 was negative.In this study,90.5%(19/21)of the patients had decreased or absent H3K27Me3 expression,23.8%(5/21)of the patients had decreased alpha-thalassemia X-linked mutant retardation syndrome protein expression,81%(17/21)of the patients had positive oligodendrocyte transcription factor 2 expression,and Ki-67 positive index was 1%-15%.Genetic testing revealed that 9.5%(2/21)of the patients had mutations i

关 键 词：神经胶质瘤 磁共振成像 病理学 组蛋白H3 诊断 

分 类 号：R739.41[医药卫生—肿瘤]