基于cfDNA脑脊液液体活检在髓母细胞瘤的研究进展

CfDNA⁃based liquid biopsy of cerebrospinal fluid in medulloblastoma

髓母细胞瘤(medulloblastoma,MB)是儿童最常见的胚胎性中枢神经系统恶性肿瘤。MB诊断、预后和治疗靶点的确定都依赖于肿瘤的分子特征,而获取脑肿瘤患者的组织标本是一个极大的挑战。脑脊液细胞游离DNA(cell⁃free DNA,cfDNA)中发现的基因组改变可预示着肿瘤组织中存在的基因组改变,脑脊液液体活检可以相对无创地检测肿瘤相关cfDNA的基因组谱和评估cfDNA作为可测量残余疾病(measurable residual disease,MRD)的标志物,为MB患者“个体化精准治疗”提供依据。本文就基于cfDNA脑脊液液体活检在MB的最新研究做系统性综述。

Medulloblastoma(MB)is the most common childhood embryonal malignant tumour in central nervous system.The diagnosis,prognosis and therapeutic targets of MB depend on the molecular characteristics of the tumor,and it is a great chal⁃lenge to obtain the tissue samples from the patients with brain tumor.Genomic changes found in cell⁃free DNA(cfDNA)of cere⁃brospinal fluid(CSF)can predict genomic changes present in tumor tissue,fluid biopsy of CSF can detect the genomic profile of tumor⁃associated cfDNA and evaluate cfDNA as a marker of measurable residual disease(MRD)in a relatively noninvasive man⁃ner,which provides the evidence of"individualized precision therapy"for MB patients.In this paper,we review the recent studies in medulloblastoma based on cfDNA liquid biopsy of CSF.