摘要：

目的 探讨分子病理检测在胶质瘤诊断中的临床价值。方法与结果 分别采用组织病理学，以及全外显子组测序、MGMT启动子甲基化和TERT启动子区突变等分子病理检测方法，同时参照2016年WHO中枢神经系统肿瘤分类第四版修订版对3例手术切除胶质瘤患者进行整合诊断。结果显示，例1为胶质瘤切除术后31年复发伴瘤卒中，整合诊断为间变性少突胶质细胞瘤，IDH突变型，1p/19q共缺失，总生存期逾32年，目前仍生存；例2于6个月内行两次胶质瘤切除术，整合诊断为胶质母细胞瘤，IDH野生型，总生存期仅6个月；例3整合诊断为胶质母细胞瘤，IDH野生型，术后辅助放射治疗和替莫唑胺同步化疗，2个月后MRI提示肿瘤复发迹象，以多靶点酪氨酸蛋白激酶抑制剂安罗替尼治疗，2个月后MRI显示病灶明显缩小，病情逐渐缓解。结论 分子病理检测有助于临床医师对胶质瘤患者的术后整合诊断、预测预后、筛选敏感药物。

关键词: 神经胶质瘤, 病理学,分子, 整合诊断(非MeSH词)

Abstract:

Objective To summarize the clinical value of molecular pathology in glioma. Methods and Results The clinical course and molecular pathology results of 3 glioma patients were compared. All 3 patients underwent integrated diagnosis according to the WHO 2016 diagnostic criteria. Molecular pathology included whole exome sequencing (WES) and detection of MGMT promoter methylation and TERT promoter mutation. Case 1 had the first surgery 32 years ago, diagnosed with left frontal glioma, only radiotherapy after surgery. The tumor was found recurrent 31 years later. Molecular pathology after reoperation suggested IDH mutation, 1p/19q combined deletion, TERT promoter region mutation, MGMT promoter methylation positive, integration diagnosed as anaplastic oligodendroglioma. The patient had overall survival over 32 years, and was still alive. Case 2 underwent two surgeries within 6 months, molecular pathology suggested IDH wild type, 1p/19q without combined deletion, TERT promoter region mutation, MGMT promoter non-methylation, integration diagnosed as glioblastoma. The overall survival was 6 months. Case 3 was suffered from left temporal giant glioma. Molecular pathology after total tumor removal revealed IDH wild type, 1p/19q without combined deletion, and non-mutation in the TERT promoter region, and MGMT promoter non-methylation. The integration diagnosis was glioblastoma. This patient underwent concurrent chemoradiotherapy after surgery. MRI showed signs of recurrence after 2 months. According to the results of WES, this patient had FGFR3 amplification, and Anrotinib the multi-target tyrosinase inhibitor was used, which was gradually relieved after 2 months. Conclusions The molecular pathology of glioma patients can help clinicians to integrate diagnosis, predict the prognosis, and help neurosurgeons to screen drugs.

Key words: Glioma, Pathology,molecular, Integrated diagnosis (not in MeSH)