脑胶质瘤患者脑脊液中ctDNA水平与组织学基因检测的一致性比较

Consistency Comparison of ctDNA Levels in Cerebrospinal Fluid and Histological Gene Detection in Patients with Glioma

目的 探讨脑脊液(cerebrospinalfluid,CSF)来源的循环肿瘤DNA(circulatingtumorDNA,ctDNA)与肿瘤组织基因检测的一致性比较。方法 收集2020年1月至12月内蒙古自治区人民医院25例脑胶质瘤患者脑脊液标本和新鲜肿瘤组织标本,对肿瘤组织标本及脑脊液标本进行二代基因测序(nextgenerationsequencing,NGS)检测ctDNA突变,以组织学基因状态为金标准,以组织学基因状态和脑脊液ctDNA为病人实际情况,比较患者脑脊液ctDNA的基因突变情况,分析脑脊液ctDNA与组织学检测基因的可比性、敏感性、特异性、一致性。结果 脑脊液ctDNA突变与组织学基因检测一致性较高,在肿瘤组织标本中检测到的基因突变最多,其次是脑脊液ctDNA,且脑脊液ctDNA检测到的基因突变在肿瘤组织中都可以检测到。在单个配对病人中,脑脊液ctDNA检测出的基因与所有检测出的基因完全一致则为脑脊液ctDNA阳性;组织标本DNA阳性20例,脑脊液ctDNA阳性11例。结论 脑脊液ctDNA可有效检测出脑胶质瘤的肿瘤标记物,对脑胶质瘤诊断及治疗具有动态监测的作用,有助于脑胶质瘤的治疗和预后评估,可作为液体活检的替代方法。

Objective To compare the consistency of gene detection between circulating tumor DNA(circulating tumor DNA,ctDNA) derived from cerebrospinal fluid(cerebrospinal fluid,CSF) and tumor tissue.Methods Cerebrospinal fluid samples and fresh tumor tissue samples from 25 patients with glioma in Inner Mongolia Autonomous region people’s hospitals from January to December 2020 were collected.ctDNA mutations in tumor tissues and cerebrospinal fluid samples were detected by second-generation gene sequencing(next-generation sequencing,NGS).According to the histological gene status as the gold standard,histological gene status,and cerebrospinal fluid ctDNA as the actual situation,the ctDNA gene mutations in cerebrospinal fluid were compared.The comparability,sensitivity,specificity,and consistency of cerebrospinal fluid ctDNA and histological detection genes were analyzed.Results The ctDNA mutation in cerebrospinal fluid was consistent with histological gene detection.Most gene mutations were detected in tumor tissues,followed by cerebrospinal fluid ctDNA,and the gene mutations detected in cerebrospinal fluid ctDNA could be detected in tumor tissues.In a single matched patient,CSF ctDNA was positive when the gene detected by CSF ctDNA was identical to all detected genes,20 cases were positive for DNA in tissue samples and 11 cases were positive for ctDNA in CSF.Conclusion Cerebrospinal fluid ctDNA can effectively detect the tumor markers of gliomas and play a dynamic monitoring role in the diagnosis and treatment of gliomas.It is helpful to the treatment and prognosis of gliomas and can be used as an alternative method of fluid biopsy.