摘要
目的探讨IDH1突变型胶质母细胞瘤(glioblastoma IDH1-mutant,GBM IDH1-mut)的临床病理学特征。方法收集2014-2018年陆军军医大学大坪医院病理科10例GBM IDH1-mut患者临床及影像学资料,观察其病理学形态及免疫表型,检测其分子改变,并复习相关文献,探讨GBM IDH1-mut的临床病理特征及分子机制。结果GBM IDH1-mut患者10例,其中男性6例,女性4例;年龄28~63岁;7例累及额叶,以头昏、头痛为主要症状,5例有胶质瘤病史。显微镜下观察GBM IDH1-mut共同形态学特征为细胞密集,细胞呈圆形、梭形、多角形,细胞异型明显,核分裂象易见,微血管增生、坏死。微血管增生以肾小球样微血管增生为主,坏死表现为栅栏状坏死和凝固性缺血性坏死,根据累及范围分为大片和局灶。8例GBM IDH1-mut周围见WHOⅡ/Ⅲ胶质瘤成分。免疫组化结果:GFAP、Nestin、IDH1呈阳性表达,Olig-2可见不同程度表达(9/10),P53呈弥漫阳性表达(9/10);ATRX均不表达;Ki-67标记指数为10%~80%,而肿瘤细胞NeuN、NF、CD68、Syn、CD34均为阴性,CD34血管内皮细胞阳性。分子病理结果:10例均见IDH1R132H突变,9例MGMT启动子发生甲基化,1p/19q未缺失(0/4),未检测到TERT突变和BRAFV600E突变(0/3)。结论GBM IDH1-mut少见,坏死局限和微血管增生不显著提示预后较好,坏死广泛和微血管显著增生提示预后较差。
Objective To investigate clinical and pathological features of IDH1-mutant glioblastoma(GBM IDH1-mut).Methods The clinical and radiological data of 10 patients with GBM IDH1-mut were collected,and their pathological,immunohistochemical,and molecular features were analyzed.The pathological diagnosis and molecular genetic features of GBM IDH1-mut were explored based on the findings in these cases and the previously reported cases.Results Of the 10 patients with GBM IDH1-mut(including 6 male and 4 female patients),7 had temporal lobe involvement with headache and dizziness as the main symptoms.Pathological examination revealed that the tumors were highly cellular,and the tumor cells were pleomorphic(spherical,spindle-shaped and polygonal)with nuclear atypia and brisk mitotic activity.All the tumors showed microvascular proliferation and foci of necrosis.Microvascular hyperplasia was characterized mainly by a glomeruloid appearance;tumor necrosis,featured mostly by palisading necrosis and coagulative ischemic necrosis,could be either extensive or focal.The component of glioma(WHO Ⅱ/Ⅲ)was found in 8 cases.The tumor cells were immunohistochemically positive for GFAP,Nestin,and IDH1 in all the cases,and Olig-2 expression of varying intensity was found in 9 cases;diffuse expression of P53 was observed in 9 cases.ATRX was negative in all the cases.The tumor cells were negative for NeuN,NF,CD68,Syn,and CD34,and the microvascular endothelial cells were positive for CD34.All the tumors showed IDH1R132H mutation.MGMT promoter methylation was detected in 9 cases,and none of the cases showed loss of 1p/19q(0/4);TERT mutation or BRAFV600E mutation(0/3)was detected in none of the cases.Conclusion GBM IDH1-mut is rare.About half of the patients with GBM IDH1-mut have favorable prognoses,which may be related to focal necrosis and mild microvascular proliferation;the other half of the patients have poor prognoses possibly due to extensive necrosis and significant microvascular proliferation.
作者
曾英
钟鹏
朱祥风
林俐
杜娟
肖华亮
郭乔楠
ZENG Ying;ZHONG Peng;ZHU Xiangfeng;LIN Li;DU Juan;XIAO Hualiang;GUO Qiaonan(Department of Pathology,Second Affiliated Hospital,Army Medical University(Third Militaiy Medical University),Chongqing,400037;Department of Pathology,Daping Hospital,Army Medical University(Third Military Medical University),Chongqing,400042,China)
出处
《第三军医大学学报》
CAS
CSCD
北大核心
2020年第7期734-743,共10页
Journal of Third Military Medical University
关键词
IDH1突变型胶质母细胞瘤
免疫组化
临床病理特征
central nervous system tumor
glioblastoma IDH1-mutant
immunohistochemistry
clinicopathological features
molecular genetics
