The value of cell-free DNA for molecular pathology.

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Stewart, Caitlin M 
Kothari, Prachi D 
Somnay, Saira 

Over the past decade, advances in molecular biology and genomics techniques have revolutionized the diagnosis and treatment of cancer. The technological advances in tissue profiling have also been applied to the study of cell-free nucleic acids, an area of increasing interest for molecular pathology. Cell-free nucleic acids are released from tumour cells into the surrounding body fluids and can be assayed non-invasively. The repertoire of genomic alterations in circulating tumour DNA (ctDNA) is reflective of both primary tumours and distant metastatic sites, and ctDNA can be sampled multiple times, thereby overcoming the limitations of the analysis of single biopsies. Furthermore, ctDNA can be sampled regularly to monitor response to treatment, to define the evolution of the tumour genome, and to assess the acquisition of resistance and minimal residual disease. Recently, clinical ctDNA assays have been approved for guidance of therapy, which is an exciting first step in translating cell-free nucleic acid research tests into clinical use for oncology. In this review, we discuss the advantages of cell-free nucleic acids as analytes in different body fluids, including blood plasma, urine, and cerebrospinal fluid, and their clinical applications in solid tumours and haematological malignancies. We will also discuss practical considerations for clinical deployment, such as preanalytical factors and regulatory requirements. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

DNA sequencing, PCR, cancer, cell-free nucleic acids, circulating tumour DNA, genomics, liquid biopsy, molecular pathology
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Journal of Pathology
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We acknowledge the Department of Pathology, Department of Pediatrics and Marie‐José and Henry R. Kravis Center for Molecular Oncology of the Memorial Sloan Kettering Cancer Center, and the Memorial Sloan Kettering Cancer Center Support Grant (NIH/NCI, Grant No. P30CA008748), as well as University of Cambridge, Cancer Research UK, the National Breast Cancer Foundation and the Victorian Cancer Agency, Australia, for their support of the respective authors.