Liquid Profiling of Circulating Nucleic Acids as a Novel Tool for the Management of Cancer Patients
Liquid profiling is a traditional concept in laboratory diagnostics using patterns of blood-derived biochemical molecules for disease detection and characterization. Beyond protein and cellular parameters, molecular biomarkers at the DNA, RNA and miRNA le
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Stefan Holdenrieder
Abstract
Liquid profiling is a traditional concept in laboratory diagnostics using patterns of blood-derived biochemical molecules for disease detection and characterization. Beyond protein and cellular parameters, molecular biomarkers at the DNA, RNA and miRNA level have been developed as promising diagnostic tools in metabolic and malignant diseases as new technologies for ultrasensitive profiling of nucleic acids in blood and body fluids became available. In cancer disease, they are successfully applied for the stratification of patients for individually tailored therapies, treatment monitoring and the sensitive detection of minimal residual disease. Due to its minimally invasive nature, blood-based qualitative and quantitative determinations of targeted and global molecular changes can be applied serially and complement well-established molecular tissue diagnostics. Interdisciplinary interaction between laboratory medicine, pathology and human genetics will speed up the development of liquid nucleic acid profiling as a most valuable tool for precision medicine. Keywords
Circulating nucleic acids • Plasma • Cancer • Therapy stratification • Therapy monitoring • Resistance detection
S. Holdenrieder (*) Institute of Laboratory Medicine, German Heart Center Munich, Lazarettstr. 36, 80636 Munich, Germany Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Sigmund-Freud-Str. 25, D-53105 Bonn, Germany e-mail: [email protected]; [email protected]; [email protected]
Circulating Nucleic Acids in Disease Detection and Management Circulating blood is in contact with all organs in the human body and transports their genetic and metabolic products as well as molecules of cell damage or cell death. Qualitative and quantitative characterization of the biochemical constituents of the blood enables the diagnosis and staging of
© Springer International Publishing Switzerland 2016 P.B. Gahan et al. (eds.), Circulating Nucleic Acids in Serum and Plasma – CNAPS IX, Advances in Experimental Medicine and Biology 924, DOI 10.1007/978-3-319-42044-8_11
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many diseases. Therefore, laboratory diagnostics in blood and other bodily fluids gained high importance in various medical disciplines. In most cases, the patterns of diverse proteins, lipids, glycans and nucleic acids were more meaningful than single markers and the understanding of the connection between the parameters became more relevant. Molecular medicine founded a new diagnostic era and has routinely been used for the identification of risk alleles in multifactorial diseases such as thrombosis or bleeding risk, of metabolic disorders as well as for pharmacogenetic testing. Molecular genetic testing efficiently complements the traditional strengths of phenotypical diagnosis and enables better understanding of complex medical issues by laboratory medicine approaches in interdisciplinary interplay with pathology and human genetics. Beyond the identification of genetic risk factors, increasingl
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