The profiling of plasma cell-free DNA(cfDNA)is becoming a valuable tool rapidly for tumor diagnosis,monitoring and prognosis.Diverse plasma cfDNA technologies have been in routine or emerging use,including analyses of...The profiling of plasma cell-free DNA(cfDNA)is becoming a valuable tool rapidly for tumor diagnosis,monitoring and prognosis.Diverse plasma cfDNA technologies have been in routine or emerging use,including analyses of mutations,copy number alterations,gene fusions and DNA methylation.Recently,new technologies in cfDNA analysis have been developed in laboratories,and potentially reflect the status of epigenetic modification,the immune microenvironment and the microbiome in tumor tissues.In this review,the authors discuss the principles,methods and effects of the current cfDNA assays and provide an overview of studies that may inform clinical applications in the near future.展开更多
Medulloblastoma(MB)is the most common childhood embryonal malignant tumour in the central nervous system.The diagnosis,prognosis and therapeutic targets of MB depend on the molecular characteristics of the tumor,and i...Medulloblastoma(MB)is the most common childhood embryonal malignant tumour in the central nervous system.The diagnosis,prognosis and therapeutic targets of MB depend on the molecular characteristics of the tumor,and it is a great challenge to obtain the tissue samples from the patients with brain tumor.Genomic changes found in cell-free DNA(cfDNA)of cerebrospinal 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 manner,which provides the evidence of"individualized precision therapy"for MB patients.In this paper,we reviewed the recent studies in medulloblastoma based on cfDNA Liquid Biopsy of CSF.展开更多
基金supported by the Beijing Natural Science Foundation(No.Z190022)the National Natural Science Foundation of China(No.81972680,81773292 and 82072748)。
文摘The profiling of plasma cell-free DNA(cfDNA)is becoming a valuable tool rapidly for tumor diagnosis,monitoring and prognosis.Diverse plasma cfDNA technologies have been in routine or emerging use,including analyses of mutations,copy number alterations,gene fusions and DNA methylation.Recently,new technologies in cfDNA analysis have been developed in laboratories,and potentially reflect the status of epigenetic modification,the immune microenvironment and the microbiome in tumor tissues.In this review,the authors discuss the principles,methods and effects of the current cfDNA assays and provide an overview of studies that may inform clinical applications in the near future.
基金Key Social Development Project in Hainan Province(No.ZDYF2019173)。
文摘Medulloblastoma(MB)is the most common childhood embryonal malignant tumour in the central nervous system.The diagnosis,prognosis and therapeutic targets of MB depend on the molecular characteristics of the tumor,and it is a great challenge to obtain the tissue samples from the patients with brain tumor.Genomic changes found in cell-free DNA(cfDNA)of cerebrospinal 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 manner,which provides the evidence of"individualized precision therapy"for MB patients.In this paper,we reviewed the recent studies in medulloblastoma based on cfDNA Liquid Biopsy of CSF.