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分子病理与组织病理对胶质母细胞瘤诊断的一致性分析

Consistency between molecular pathology and histopathology in diagnosis of glioblastoma
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摘要 目的 通过比较胶质母细胞瘤患者组织病理和分子病理结果的差异,分析组织病理在诊断胶质母细胞瘤方面的局限性。方法 回顾性分析2020年1月—2022年7月在徐州医科大学附属医院神经外科经手术治疗的胶质母细胞瘤患者病理资料共83例。以分子病理为金标准,将组织病理在胶质母细胞瘤的诊断上与分子病理不一致的患者的记为A组(26例),一致的患者的记为B组(57例),通过对比两组的具体差异,分析组织病理在诊断胶质母细胞瘤方面的局限性。结果 组织病理在胶质母细胞瘤的诊断上与分子病理的一致率仅为68.67%,检测异柠檬酸脱氢酶1(IDH-1)突变、O~6-甲基鸟嘌呤DNA甲基转移酶(MGMT)启动子甲基化和α-地中海贫血/精神发育迟滞综合征X染色体相关基因(ATRX)突变与分子病理的一致率分别为85.54%、60.24%和87.95%。两组患者组织病理在检测IDH-1的正确率上存在差异(65.38%vs 94.73%,P<0.01),细胞增殖相关核抗原(Ki-67)指数也存在差异(P<0.01)。结论 组织病理检测胶质母细胞瘤中MGMT甲基化的正确率低。组织病理在胶质母细胞瘤的诊断上发生错误的原因主要是IDH-1的诊断错误。对临床上症状进展快的患者,即使组织病理Ki-67指数低,分级为低级别,也应行分子病理检测,明确其是否为胶质母细胞瘤。 Objective To investigate the limitations of histopathology in the diagnosis of glioblastoma by comparing the results of histopathology versus molecular pathology in patients with glioblastoma.Methods A retrospective analysis was performed for the pathological data of 83 patients with glioblastoma who underwent surgical treatment in Department of Neurosurgery,The Affiliated Hospital of Xuzhou Medical University,from January 2020 to July 2022.With molecular pathology as the gold standard,26 patients with inconsistent diagnosis of glioblastoma between histopathology and molecular pathology were classified as group A,and 57 patients with consistent diagnosis were classified as group B.The two groups were compared in detail to analyze the limitations of histopathology in the diagnosis of glioblastoma.Results The consistency rate between histopathology and molecular pathology was 68.67%in the diagnosis of glioblastoma.In the detection of isocitrate dehydrogenase 1(IDH-1)mutation,O6-methylguanine-DNA methyltransferase(MGMT)promoter methylation,and alpha-thalassemia/mental retardation syndrome X-linked mutation,the consistency rate between histopathology and molecular pathology was 85.54%,60.24%,and 87.95%,respectively.There was a significant difference in the correct rate of IDH-1 detection by histopathology between the two groups(65.38%vs 94.73%,P<0.01),and there was also a significant difference in the expression index of the cell proliferation-associated nuclear antigen Ki-67 between the two groups(P<0.01).Conclusions Histopathology has a low correct rate in detecting MGMT methylation in glioblastoma.Misdiagnosis of IDH-1 is the main reason for the error in the diagnosis of glioblastoma by histopathology.For patients with rapid progression of clinical symptoms,molecular pathological examination should be performed to confirm the diagnosis of glioblastoma even if they have low Ki-67 index and grade based on histopathology.
作者 徐义强 于如同 高文昌 阴鲁鑫 XU Yiqiang;YU Rutong;GAO Wenchang;YIN Luxin(Department of Neurosurgery,Affiliated Hospital of Xuzhou Medical University,Xuzhou,Jiangsu 221000,China)
出处 《国际神经病学神经外科学杂志》 2023年第2期29-33,共5页 Journal of International Neurology and Neurosurgery
基金 中国博士后科学基金(2015M571821)。
关键词 胶质母细胞瘤 分子病理 组织病理 glioblastoma molecular pathology histopathology
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