Liquid biopsy for children with central nervous system tumours: Clinical integration and technical considerations

Frontiers in Pediatrics

article

Reda Stankunaite¹  Lynley V. Marshall⁴  Fernando Carceller⁴  Louis Chesler⁴  Michael Hubank¹  Sally L. George⁴ 

[1] Division of Molecular Pathology, The Institute of Cancer Research;Clinical Genomics, Royal Marsden NHS Foundation Trust;Evolutionary Genomics and Modelling, Centre for Evolution and Cancer, The Institute of Cancer Research;Paediatric Tumour Biology, Division of Clinical Studies, The Institute of Cancer Research;Children and Young People's Unit, Royal Marsden NHS Foundation Trust

关键词: cell free DNA (cfDNA);    liquid bioposy;    paediatric oncology;    CNS tumours;    molecular diagnostics;    personalised medicine;    cancer heterogeneity;    circulating tumour DNA (ctDNA);   

DOI  :  10.3389/fped.2022.957944

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Circulating cell-free DNA (cfDNA) analysis has the potential to revolutionise the care of patients with cancer and is already moving towards standard of care in some adult malignancies. Evidence for the utility of cfDNA analysis in paediatric cancer patients is also accumulating. In this review we discuss the limitations of blood-based assays in patients with brain tumours and describe the evidence supporting cerebrospinal fluid (CSF) cfDNA analysis. We make recommendations for CSF cfDNA processing to aid the standardisation and technical validation of future assays. We discuss the considerations for interpretation of cfDNA analysis and highlight promising future directions. Overall, cfDNA profiling shows great potential as an adjunct to the analysis of biopsy tissue in paediatric cancer patients, with the potential to provide a genetic molecular profile of the tumour when tissue biopsy is not feasible. However, to fully realise the potential of cfDNA analysis for children with brain tumours larger prospective studies incorporating serial CSF sampling are required.

【 授权许可】

CC BY