摘要
目的探讨脑脊液ctDNA活检在脑恶性肿瘤中的临床应用价值。方法河南省人民医院2018年9月—2019年12月收治的收集25例影像学确诊脑恶性肿瘤患者肿瘤组织标本、脑脊液标本及血液标本。对于组织标本、脑脊液标本进行二代基因测序(next generation sequencing,NGS)检测ctDNA突变,对于血液标本进行白细胞胚系突变排除检测,筛选出肿瘤突变基因。结合临床资料,分析患者脑脊液和肿瘤组织的基因改变,比较组织标本和脑脊液检测结果。结果脑脊液ctDNA突变与肿瘤组织DNA的一致性较高,相比组织能检测出更全面的肿瘤分子信息。IDH1突变大多存在于低级别星型细胞瘤胶质瘤患者中,他们平均年龄更年轻。TP53和PTEN的突变在高级别胶质瘤患者之中更常见。BRAF基因的重排发现存在于髓母细胞瘤中。结论脑脊液ctDNA活检可有效检测出肿瘤标志物,有助于术后动态监测脑恶性肿瘤患者的肿瘤标志物变化,对预测复发、靶向药物筛选有益,可作为液体活检的替代方法。
Objective To investigate the clinical value of ctDNA biopsy in cerebral malignant tumors.Methods tumor tissue,cerebrospinal fluid and blood samples were collected from 25 patients with brain malignant tumor diagnosed by imaging.For tissue samples and cerebrospinal fluid samples,next generation sequencing(NGS)was performed to detect ctDNA mutations,and for blood samples,leukocyte germ line mutation exclusion test was performed to screen tumor mutant genes.Combined with clinical data,the genetic changes of patients'CSF and tumor tissues were analyzed,and the tissue samples and CSF detection results were compared.Results the ctDNA mutation of CSF was more consistent with that of tumor tissue,and the tumor molecular information was more comprehensive than that of tumor tissue.IDH1 mutations are mostly present in patients with low-grade astrocytoma glioma,who are younger on average.Mutations in TP53 and PTEN are more common in patients with high-grade glioma.The rearrangement of the BRAF gene was found in medulloblastoma.Conclusion CSF ctDNA biopsy can effectively detect tumor markers,help to dynamically monitor the changes of tumor markers in patients with brain malignancy after surgery,and is beneficial for predicting recurrence and screening targeted drugs.It can be used as an alternative method for liquid biopsy.
作者
禹金良
闫兆月
盛致远
孙勇
高玉帅
步星耀
YU Jin-liang;YAN Zhao-yue;SHENG Zhi-yuan;SUN Yong;GAO Yu-shuai;BU Xing-yao(Department of Neurosurgery,Zhengzhou University People's Hospital(Henan Provincial People’s Hospital),Zhengzhou 450003,China)
出处
《医药论坛杂志》
2020年第6期75-79,共5页
Journal of Medical Forum
基金
河南科技攻关重点项目(192102310126)。
关键词
液体活检
CT-DNA
脑脊液
脑恶性肿瘤
二代测序
Liquid biopsy
Ct-DNA
Cerebrospinal fluid
Brain malignancy
Next generation sequencing
