上皮样胶质母细胞瘤伴Braf V600E突变型的影像学特征  

Imaging characteristics and analysis of epithelioid glioblastoma with Braf V600E mutant

作　　者：邓玲[1] 古家美 王芳[1] 杜紫明[1] 吴小延[1] DENG Ling;GU Jiamei;WANG Fang;DU Ziming;WU Xiaoyan(Department of Molecular Diagnostics,Sun Yat-sen University Cancer Center,Guangzhou,Guangdong 510060,China)

机构地区：[1]中山大学肿瘤防治中心分子诊断科,广东广州510060

出　　处：《影像研究与医学应用》2023年第10期12-16,共5页Journal of Imaging Research and Medical Applications

基　　金：广东省基础与应用基础研究基金(2020A1515010313,2017A030310192);国家自然科学基金(81602468);中山大学青年教师培育项目(17ykpy84);中山大学百人计划引进人才科研启动经费(PT19050301)。

摘　　要：目的:探讨上皮样胶质母细胞瘤伴Braf V600E突变型的影像学特征,以提高对本病的认识及诊断水平。方法:回顾性分析2017年3月-2023年1月于中山大学肿瘤防治中心经手术病理证实的8例上皮样胶质母细胞瘤伴Braf V600E突变型患者的临床资料以及影像学表现。结果:8例上皮样胶质母细胞瘤患者大脑半球均可见不同程度受累,1例病变位于额叶,1例病变位于颞叶,1例病变位于颞顶叶,2例病变位于额叶及顶叶,1例病变位于额叶及胼胝体,1例病变位于顶叶及左侧脑室三角区。4例伴不同程度囊变、坏死,8例均有明显瘤周水肿,两例出血,未见钙化。弥散加权成像(diffusion-weighted imaging,DWI)序列显示4例呈高信号。8例患者完成MRI增强扫描,2例无强化,3例轻度强化,3例见环形、不均匀及明显强化。8例均存在不同程度占位效应。3例术后出现肿瘤复发。结论:上皮样胶质母细胞瘤伴Braf V600E突变型的影像学具有一些特定的表现,提高对本病的认识十分重要,明确诊断仍需依赖病理学以及免疫组织化学结果。Objective To investigate the imaging features of epithelioid glioblastoma with Braf V600E mutant,so as to improve the understanding and diagnosis of this disease.Methods The clinical data and imaging findings of 8 patients of epithelioid glioblastoma with Braf V600E mutant confirmed by surgery and pathology at Sun Yat-sen University Cancer Center from March 2017 to January 2023 were retrospectively analyzed.Results 8 patients with epithelioid glioblastoma were involved in the cerebral hemispheres to varying degrees,including 1 lesion in the frontal lobe,1 lesion in the temporal lobe,1 lesion in the temporo-parietal lobe,2 lesions in the frontal and parietal lobes,1 lesion in the frontal lobe and corpus callosum,and 1 lesion in the parietal lobe and the left ventricular trigone.There were 4 cases with cystic degeneration and necrosis of different degrees,8 cases with obvious peritumoral edema,2 cases with hemorrhage,no calcification.Diffusion-weighted imaging(DWI)sequences showed high signal in 4 cases.Eight patients completed enhanced MRI scan,2 had no enhancement,3 had mild enhancement,and 3 had annular,uneven and obvious enhancement.All the 8 cases had different degree of space occupying effect.Tumor recurrence occurred in 3 patients after operation.Conclusion The imaging findings of epithelioid glioblastoma with Braf V600E mutation are specific,and it is important to improve the understanding of the disease.The definite diagnosis still depends on the pathological and immunohistochemical findings.

关 键 词：上皮样 胶质母细胞瘤 Braf V600E 影像学特征 

分 类 号：R445.2[医药卫生—影像医学与核医学]