The Value of Cell-free DNA for Molecular Pathology

Abstract

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 primary tumours as well as distant metastatic sites and 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 guiding therapy, an exciting first step 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, cerebrospinal fluid, and their clinical applications in solid tumours and haematological malignancies. We will also discuss practical considerations for clinical deployment, such as pre-analytical factors and regulatory requirements.

from #ORL-AlexandrosSfakianakis via ola Kala on Inoreader http://ift.tt/2BERLQC