少突-星形细胞瘤病例的临床回顾和整合诊断研究  

Retrospective Analysis and Integrated Diagnosis of Oligoastrocytoma

作　　者：仵倩 陈宏 WU Qian;CHEN Hong(Department of Pathology,Huashan Hospital,Fudan University,Shanghai 200040,China)

机构地区：[1]复旦大学附属华山医院病理科,上海200040

出　　处：《中国临床神经科学》2020年第3期241-252,共12页Chinese Journal of Clinical Neurosciences

基　　金：上海市青年科技英才扬帆计划(编号:19YF1404900)。

摘　　要：目的根据2016年WHO中枢神经系统肿瘤分类第4版修订方案(2016年WHO指南),探讨分子标志物对病理诊断和预后的指导意义。方法对既往诊断为少突-星形细胞瘤或间变少突-星形细胞瘤的病例回顾病理检查结果参照2016年WHO指南重新进行整合性诊断。收集2014至2016年,45例经手术切除后组织病理诊断为少突-星形细胞瘤及间变少突-星形细胞瘤的病例。采用直接测序法检测IDH1/2基因突变及TERT启动子区突变,采用荧光原位杂交(FISH)检测1p/19q的共缺失状态,采用甲基化特异性PCR(MSP)方法检测O6-甲基鸟嘌呤-DNA甲基转移酶(MGMT)甲基化水平。分析TERT启动子突变及MGMT甲基化与患者总生存期和无复发生存期的关系。结果依据2016年WHO指南,结合IDH基因突变、1p/19q共缺失等分子标志物特征,45例整合诊断为:少突胶质细胞瘤(IDH突变型和1p/19q共缺失)22例;弥漫性胶质瘤[IDH野生型(IDH野生型和1p/19q共缺失)]2例;弥漫星形细胞瘤(IDH突变型8例,IDH野生型3例)11例;间变少突胶质细胞瘤(IDH突变型和1p/19q共缺失)2例;间变弥漫星形细胞瘤(IDH突变型3例,IDH野生型1例)4例;少突-星形细胞瘤(未知类型)4例。TERT启动子突变及MGMT甲基化的患者总生存期较短,但差异无统计学意义。结论依据2016年WHO指南和更新的修改建议,并不能把既往诊断为少突-星形细胞瘤的患者进行完全分类;此类混合性胶质瘤的生物学和遗传学特征还需进行深入研究。Aim To retrospectively review the cases formerly diagnosed as oligoastrocytoma according to the revision of 4 th edition of WHO classification of tumors of the central nervous system(CNS)published in 2016,which brought in the molecular parameters as an evidence to define many tumor entities,and to make an integrated diagnosis for the oligoastrocytoma subgroup and discuss the significance of molecular characters on patients diagnose and prognosis.Methods Forty-five formerly diagnosed as oligoastrocytom or anaplastic oligoastrocytoma based on the histopathology according to the 4 th edition of WHO classification of CNS tumors during 2014 and 2016 were collected.Isocitrate dehydrogenase(IDH)1/2 mutation and promoter of promoter of telomerase reverse transcriptase(TERTp)mutation were detected by Sanger sequencing,the polymorphism of chromosome 1 p and 19 q were analyzed by fluorescence in situ hybridization(FISH),and the methylation of MGMT promotor was determined by methylationspecific-PCR(MSP).All the cases were integrated diagnosed following the revision the 4 th edition of WHO classification of CNS tumors.The relationship between TERTp mutation or methylation of MGMT and the overall survival or disease free survival of patients were analyzed by Kaplan-Meier method.Results The newly integrated diagnosis of the 45 patients were as follows:22 patients oligodendroglioma,IDH-mutant and 1 p/19 q-codeleted;2 patients diffuse glioma,IDH wild type,with 1 p/19 q-codeleted;8 patients diffuse astrocytoma,IDH-mutant;3 patients diffuse astrocytoma,IDH wild type;2 patients anaplastic astrocytoma,IDH-mutant;one patient anaplastic astrocytoma,IDH wild type;and 4 patients oligoastrocytoma,not elsewhere classified,due to the conflict between the molecular parameters and the histopathology.Patients owing TERTp mutation or MGMT methylation pretended to have a shorter overall survival and disease free survival,however no significance showed.Conclusion The current molecular parameters seem to be not enough for reclassification of the m

关 键 词：少突-星形细胞瘤 少突胶质细胞瘤 弥漫星形细胞瘤 异柠檬酸脱氢酶 1p/19q 端粒酶逆转录酶启动子 

分 类 号：R741.02[医药卫生—神经病学与精神病学]