摘要
目的:通过比较全自动免疫组化法与一代测序技术在检测人脑胶质瘤异柠檬酸脱氢酶1(isocitrate dehydrogenase 1,IDH1)基因突变中的优点和缺点,为临床检测脑胶质瘤IDH1基因突变提供有效的方案。方法:收集99例石蜡包埋的临床脑胶质瘤手术标本,采用全自动免疫组化染色机进行IDH1-R132H免疫组化染色,由三名高年资病理医师根据染色结果对IDH1基因突变状态进行判别。同时提取上述99例石蜡包埋的脑胶质瘤组织全基因组DNA,运用ABI3500测序仪检测IDH1-R132H基因突变状态。采用Kappa检验比较两种检测方法检测脑胶质瘤IDH1基因突变状态的一致性。结果:全自动免疫组化染色结果显示99例脑胶质瘤中22例IDH1-R132H阳性;一代测序技术检测结果显示上述病例中20例IDH1基因突变,2例因为DNA质量不佳导致检测无结果。Kappa检验证实全自动免疫组化法和一代测序技术检测脑胶质瘤IDH1基因突变具有较好的一致性(Kappa系数为0.94)。结论:全自动免疫组化法与一代测序技术检测脑胶质瘤IDH1基因突变状态具有高度的一致性,临床实际应用中可首选全自动免疫组化法,而一代测序技术适用于免疫组化检测结果为突变阴性的病例。
Objective:To compare the advantages and disadvantages between automatic immunohistochemistry and first-generation sequencing in detecting the mutation of isocitrate dehydrogenase 1(IDH1)gene in human glioma,and to provide an effective method for clinical detection of IDH1 gene mutation in glioma.Methods:Ninety-nine paraffin-embedded surgical specimens of gliomas were collected.Immunohistochemical staining of IDH1-R132H was performed by automatic immunohistochemical staining machine.Then the mutation status of IDH1 gene was identified by three pathologists according to the staining results.At the same time,the whole genome DNA of the 99 paraffin-embedded glioma tissues was extracted,and the mutation status of IDH1-R132H gene was detected by ABI3500 sequencer.Cohen's Kappa test was used to compare the consistency of two detection methods in the diagnosis of IDH1 gene mutation in glioma.Results:Automated immunohistochemical staining showed that IDH1 mutation occurred in 22 of 99 gliomas.First-generation sequencing showed that 20 of 99 gliomas had IDH1 mutations,and 2 cases were not detected due to poor DNA quality.Cohen's Kappa test confirmed that automatic immunohistochemistry and first-generation sequencing had high consistency in detecting IDH1 gene mutation in glioma(Cohen's Kappa=0.94).Conclusion:Automatic immunohistochemistry and first-generation sequencing have a high degree of consistency in detecting IDH1 gene status in glioma.Automatic immunohistochemistry is the first choice and first-generation sequencing is suitable for negative cases by immunohistochemistry.
作者
林俐
朱祥风
付萍
王秋实
肖华亮
LIN Li;ZHU Xiangfeng;FU Ping;WANG Qiushi;XIAO Hualiang(Department of Pathology,Daping Hospital,Army Medical University,Chongqing 400042,China)
出处
《现代肿瘤医学》
CAS
北大核心
2022年第4期599-602,共4页
Journal of Modern Oncology
关键词
脑胶质瘤
IDH1
一代测序
全自动免疫组化
glioma
IDH1
first-generation sequencing
automatic immunohistochemistry
作者简介
林俐(1968—),女,四川人,主管技师,主要从事免疫组化技术工作。E-mail:865072727@qq.com;通讯作者:肖华亮(1973—),男,湖南人,博士,副主任医师,副教授,硕士生导师,主要从事病理诊断工作。E-mail:dpbl_xhl@126.com。