TERT启动子突变检测在胶质瘤中的意义  

Role of TERT promoter mutation detection in gliomas

作　　者：张科平[1] 许洁[1] 林丹义 崔倩 徐方平[1] 李智[1] ZHANG Ke-ping;XU Jie;LIN Dan-yi;CUI Qian;XU Fang-ping;LI Zhi(Department of Pathology,Guangdong Provincial Hospital/Medical Academey of Guangdong Province,Guɑnɡzhou 510080,China)

机构地区：[1]广东省人民医院广东省医学科学院病理科,广州510080

出　　处：《诊断病理学杂志》2022年第7期628-630,634,共4页Chinese Journal of Diagnostic Pathology

摘　　要：目的研究胶质瘤人群中TERT启动子突变情况,为胶质瘤的亚型分类、预后评估、靶向治疗提供依据。方法收集110例胶质瘤石蜡标本,提取DNA,应用一代测序方法检测TERT启动子突变。结果110例胶质瘤的石蜡标本,TERT启动子测序检测出C228 T和C250 T两种突变,突变率为39.09%(43/110),其中C228 T突变率为12.73%(14/110),C250 T突变率为26.36%(29/110)。根据组织学分型,胶质母细胞瘤突变率为45.65%(21/46);间变型星形细胞瘤突变率为50.00%(9/18);弥漫型星形细胞瘤突变率为9.09%(1/11);少突胶质细胞瘤(10例)和间变型少突胶质细胞瘤(1例)的突变率为100.00%;其他肿瘤:包括毛细胞型星形细胞瘤(8例)、肥胖细胞型星形细胞瘤(1例)、多形性黄色星形细胞瘤(2例)、弥漫型中线胶质瘤(5例)、胶质肉瘤、节细胞胶质瘤、胶质神经元肿瘤(24例),突变率为4.17%(1/24)。依据WHO神经系统肿瘤分级,低级别胶质瘤(Ⅰ~Ⅱ级)突变率为30.56%,高级别胶质瘤(Ⅲ~Ⅳ级)突变率为43.24%。通过卡方检验,不同级别胶质瘤突变率差异无显著性(P>0.05)。结论TERT启动子突变常见于少突胶质细胞瘤和胶质母细胞瘤中,高级别胶质瘤突变率可能高于低级别胶质瘤。TERT启动子突变检测对胶质瘤的亚型分类、评估肿瘤恶性程度及预后具有临床意义。Objective To study the mutations of TERT promoter in Chinese glioma population,and to provide basis for subtype classification,prognosis evaluation,and targeted therapy of glioma.Methods A total of 110 paraffin specimens of glioma were collected,DNA was extracted,and the first-generation sequencing method was used to detect the mutation of TERT promoter.Results In the 110 paraffin specimens of gliomas,TERT promoter sequencing detected two mutations,C228T and C250T,with a mutation rate of 39.09%(43/110),of which the mutation rate of C228T was 12.73%(14/110)and the mutation rate of C250T was 26.36%(29/110).According to histological classification,the mutation rate of glioblastoma was 45.65%(21/46);the mutation rate of anaplastic astrocytoma was 50%(9/18);the mutation rate of diffuse astrocytoma was 9.09%(1/11);the mutation rate of oligodendroglioma(10 cases)and anaplastic oligodendroglioma(1 case)was 100%;in other types of the tumor,including pilocytic astrocytoma(8 cases),gemistocytic astrocytoma(1 case),pleomorphic xanthoastrocytoma(2 cases),diffuse midline glioma(5 cases),ganglion cell glioma and neuronal-glial tumor,the mutation rate was 4.17%(1/24).According to the WHO nervous system tumor classification,the mutation rate of low-grade glioma(gradeⅠ-Ⅱ)was 30.56%,and the mutation rate of high-grade glioma(gradeⅢ-Ⅳ)was 43.24%.By chi-square test,there was no statistical difference between TERT promoter mutation and WHO grading(P>0.05).Conclusion TERT promoter mutations are commonly detected in oligodendrogliomas and glioblastomas.The mutation rate of high-grade gliomas is higher than that of low-grade gliomas.TERT promoter mutation detection has clinical significance in the classification of glioma subtypes and the evaluation of tumor malignancy and prognosis.

关 键 词：TERT启动子 胶质瘤 突变分析 

分 类 号：R73[医药卫生—肿瘤]