| 王 琳,孙 琳,刘福荣.二代基因测序在胶质瘤治疗中的临床价值[J].中国肿瘤,2021,30(8):627-634. |
| 二代基因测序在胶质瘤治疗中的临床价值 |
| Clinical Value of Next Generation Sequencing in Gliomas |
| 中文关键词 修订日期：2021-04-12 |
| DOI：10.11735/j.issn.1004-0242.2021.08.A009 |
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| 中文关键词: 胶质瘤 二代基因测序 治疗 预后 罕见基因 突变 |
| 英文关键词:gliomas next generation sequencing treatment prognosis rare gene mutation |
| 基金项目:河南省医学科技攻关计划省部共建项目（SB201901021） |
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| 中文摘要: |
| 摘 要：［目的］ 探讨二代基因测序（next generation sequencing，NGS）在胶质瘤治疗和预后中的临床意义。［方法］ 收集郑州大学第一附属医院2017年6月至2019年6月收治的88例胶质瘤患者。所有患者的术后组织标本均经过NGS，分析突变基因对肿瘤突变负荷（tumor mutation burden，TMB）的影响，并对2年无进展生存期（progression?鄄free survival，PFS）和2年总生存期（overall survival，OS）的影响因素进行单因素和多因素分析。［结果］ 每例患者均检测了520个基因，其中TP53基因突变、IDH1基因突变及CDKN2B基因突变是影响TMB的独立危险因素（P＜0.05）。IDH1基因突变、PTEN基因突变是影响2年PFS的独立因素（P＜0.05）。TMB和PTEN基因突变是影响2年OS的独立因素（P＜0.05）。［结论］ NGS增加了胶质瘤中有意义的突变基因的检出率，尤其是一些罕见基因，可以用于指导患者的治疗和预测患者的预后。 |
| 英文摘要: |
| Abstract: ［Purpose］ To investigate the clinical value of next generation sequencing(NGS) in the treatment and prognosis of gliomas. ［Methods］ Eighty-eight patients with gliomas were admitted in the First Affiliated Hospital of Zhengzhou University from June 2017 to June 2019. The tissue specimens of glioma were sequenced by NGS. The influence of mutant gene to tumor mutation burden(TMB) was analyzed， and the influencing factors of 2-year progression-free survival(PFS) and 2-year overall survival(OS) were analyzed by univariate and multivariate logistic regression analyses. ［Results］ There were 520 genes sequenced in each patient. The gene mutations of TP53， IDH1 and CDKN2B were independent risk factors for TMB(P＜0.05). The gene mutations of IDH1 and PTEN were the risk factor for 2-year PFS(P＜0.05). TMB and PTEN mutation were the risk factors for 2-year OS(P＜0.05). ［Conclusion］ NGS can enhance the detection rate of gene mutations in gliomas， especially for rare genes， so as to guide the treatment for patients and predict the prognosis. |
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