CAJ | 학술논문

目的：探讨端粒酶逆转录酶(TERT)启动子区突变与胶质瘤患者临床病理指标的关系及其对预后的影响。方法：应用Sanger测序技术检测78例脑胶质瘤组织中TERT启动子区C228T和C250T位点的突变情况，分析TERT启动子区突变与临床病理指标的关系及其对预后的影响。结果：TERT启动子区突变在脑胶质瘤中的发生率为32.1%，在低级别(Ⅰ~Ⅱ)和高级别(Ⅲ~Ⅳ)胶质瘤中突变分别占28.0%和34.0%。其中少突星形细胞瘤中突变占57.1%，胶质母细胞瘤中突变占44.4%，低级别星形细胞瘤和少突胶质细胞瘤中突变分别占28.6%和23.1%。TERT启动子区突变与胶质瘤患者术后生存时间显著相关，突变型术后生存时间显著短于野生型(P=0.001)。按低级别和高级别分组独立分析后发现，TERT启动子区突变在低级别组和高级别组中均与不良预后相关( P值分别为0.019和0.018)。Cox回归分析表明，TERT启动子区突变和术后放化疗是独立的预后影响因素(P=0.002，HR=3.486，95%CI：1.591~7.637；P=0.004，HR=0.331，95%CI：0.156～0.699)。结论：TERT启动子区突变频繁发生于脑胶质瘤中，突变型胶质瘤患者预后不良。
목적：탐토단립매역전록매(TERT)계동자구돌변여효질류환자림상병리지표적관계급기대예후적영향。방법：응용Sanger측서기술검측78례뇌효질류조직중TERT계동자구C228T화C250T위점적돌변정황，분석TERT계동자구돌변여림상병리지표적관계급기대예후적영향。결과：TERT계동자구돌변재뇌효질류중적발생솔위32.1%，재저급별(Ⅰ~Ⅱ)화고급별(Ⅲ~Ⅳ)효질류중돌변분별점28.0%화34.0%。기중소돌성형세포류중돌변점57.1%，효질모세포류중돌변점44.4%，저급별성형세포류화소돌효질세포류중돌변분별점28.6%화23.1%。TERT계동자구돌변여효질류환자술후생존시간현저상관，돌변형술후생존시간현저단우야생형(P=0.001)。안저급별화고급별분조독립분석후발현，TERT계동자구돌변재저급별조화고급별조중균여불량예후상관( P치분별위0.019화0.018)。Cox회귀분석표명，TERT계동자구돌변화술후방화료시독립적예후영향인소(P=0.002，HR=3.486，95%CI：1.591~7.637；P=0.004，HR=0.331，95%CI：0.156～0.699)。결론：TERT계동자구돌변빈번발생우뇌효질류중，돌변형효질류환자예후불량。
OBJECTIVE:To explore the correlation between TERT promoter mutations and clinicopathological features in patients with gliomas. METHODS:TERT promoter mutations were screened by direct DNA sequencing in a population-based collection of 78 glioma tissues. The correlation of TERT promoter mutations and the prognosis was analyzed.RESULTS:We identified TERT promoter mutations in 32.1% gliomas,including 28.0% in low grade tumors and 34.0% in high grade tumors. The mutations were much more common in oligoastrocytomas (57.1%) and glioblastomas (44.4%),while much less prevalent in astrocytomas (28.6%) and oligodendrogliomas(23.1%). Median overall survival of the patients harboring mutations in TERT promoter was longer than that without the mutations (P=0.001) in both low (P=0.019) and high grade gliomas (P=0.018). Multivariate analysis revealed TERT promoter mutations and no postoperative adjuvant therapy as significant prognostic factors for shorter survival (P=0.002,HR=3.486,95%CI: 1.591-7.637;P=0.004,HR=0.331,95%CI:0.156-0.699). CONCLUSION:TERT promoter mutations frequently occurred in gliomas,which was a prognostic factor of poor outcome for the patients with the same pathological grade gliomas.