摘要
目的探讨上皮样胶质母细胞瘤(epithelioid glioblastoma,E-GBM)的临床病理学特征及鉴别诊断。方法回顾性分析16例E-GBM的病理组织学特征、免疫表型及分子遗传学特征,并结合相关文献复习探讨E-GBM的诊断和鉴别诊断。结果16例E-GBM中,男性9例,女性7例,中青年人多见。镜下肿瘤细胞呈弥漫成片生长,黏附性较差,可见坏死;肿瘤细胞呈上皮样、横纹肌样,胞质丰富、嗜酸性,泡状核,有明显的核仁,核分裂易见;部分病例可见微血管增生。免疫表型:16例GFAP均阳性,部分为弥漫阳性,部分局灶阳性;16例S-100和vimentin均强阳性;Oligo-2阳性(15/16),部分病例为灶阳性或少量肿瘤细胞阳性;EMA(6/16)、CK(AE1/AE3)(1/16)灶阳性;ATRX、INI-1和BRG-1均阳性;desmin、Myogenin、MyoD1、HMB45、Melan-A、SSTR2和IDH1均阴性;Ki-67增殖指数10%~60%。分子检测显示:16例中13例存在BRAF V600E基因突变,均未检测到IDH1基因R132位点及IDH2基因R172位点突变,均未发现EGFR基因扩增;其中10例同时检测了TERT启动子突变情况,均未发现突变。术后14例患者获得随访,6例死亡,8例存活,总生存时间1~60个月,中位生存时间10个月。结论E-GBM是胶质母细胞瘤的一种少见亚型,好发于儿童及青少年,联合组织学特征、免疫组化标记及分子检测是诊断该肿瘤的有效手段,形态学上需与横纹肌样脑膜瘤、非典型畸胎样横纹肌样瘤、其他类型胶质母细胞瘤、转移性癌及其他转移性恶性肿瘤相鉴别。
Purpose To investigate the clinicopathological features and differential diagnosis of epithelioid glioblastoma(E-GBM)to improve the diagnosis.Methods The clinical data of 16 cases of E-GBM were collected,and their pathological,immunohistochemical,and molecular features were examined.The pathological diagnosis,differential diagnosis and molecular genetic features of the tumors were discussed based on these cases with review of related literature.Results The 16 cases of E-GBM included 9 males and 7 females,predominantly occurred in young adults.Histological examination showed that tumor cells were diffuse and monolithic,with poor adhesion and necrosis.The tumor cells were epithelioid and rhabdoid,with abundant cytoplasm,eosinophilic,vesicular nuclei,obvious nucleoli,and obvious mitosis.Microvascular hyperplasia was noted in some cases.Immunohistochemical findings showed that all the cases were positive for GFAP,S-100,vimentin,ATRX,INI-1 and BRG-1.Oligo-2 was expressed in most cases(15/16),EMA was focally expressed in 6 cases,and CK(AE1/AE3)was focally expressed in 1 case.All the cases were negative for desmin,Myogenin,MyoD1,HMB45,Melan-A,SSTR2 and IDH1.The Ki-67 index ranged from 10%to 60%.Molecular findings demonstrated that the BRAF V600E mutation was detected in 13 cases,and no mutation of IDH1 gene R132 or IDH2 gene R172 was detected,and no EGFR gene amplification was detected.TERT promoter mutations were not detected in 10 patients.Sixteen patients were followed up after surgery,of which 14 patients were available and 2 patients were lost.By the time of follow-up,6 of the 14 patients died and 8 patients survived,with a survival time between 1 month and 60 months,with a median survival time of 10 months.Conclusion E-GBM is a rare variant of glioblastoma,with histological epithelioid features,usually occurs in children and adolescents.Differential diagnosis includes meningioma,atypical teratoid/epithelioid tumor,other types of glioblastoma,and metastatic malignancies,and the diagnosis requires a combination of histopathological and immunohistochemical findings.
作者
张红燕
胡培珠
崔黎
武笑宇
张文艳
ZHANG Hong-yan;HU Pei-zhu;CUI Li;WU Xiao-yu;ZHANG Wen-yan(Department of Pathology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《临床与实验病理学杂志》
CAS
北大核心
2023年第6期685-689,共5页
Chinese Journal of Clinical and Experimental Pathology
基金
河南省教育厅重点项目(18A310009)。
