Zusammenfassung
Molekularbiologische Analysen von Nukleinsäuren im Blut oder anderen Körperflüssigkeiten (sog. Liquid-biopsy-Analysen) könnten in den nächsten Jahren die Diagnostik des Pathologen sinnvoll ergänzen – v. a. in der personalisierten Krebsmedizin. Bei den onkologischen Erkrankungen wird das Potenzial der „liquid biopsy“ insbesondere darin gesehen, die Tumorlast nichtinvasiv zu bestimmen und entstehende Resistenzen gegen spezifische Therapien bei Patienten mit metastasierten Tumoren frühzeitig zu erkennen. Aber auch der primäre Nachweis onkologischer Treibermutationen mithilfe der Blutanalyse wird zunehmend diskutiert und ist zum Nachweis von Epidermal-Growth-Factor-Receptor(EGFR)-Mutationen beim Lungenkarzinom bei fehlender Biopsie bereits zugelassen. Insgesamt betrachtet erscheint die blutbasierte DNA-Analytik aufgrund vieler offener Fragen und beträchtlicher Unsicherheiten aber noch nicht einsatzbereit für einen routinemäßigen Einsatz in der Krebsdiagnostik. Der vorliegende Artikel möchte den Stand der Entwicklung aus Sicht eines molekularpathologischen Labors darlegen.
Abstract
Molecular biological analysis of nucleic acids in blood or other bodily fluids (i.e. liquid biopsy analyses) may supplement the pathologists’ diagnostic armamentarium in a reasonable way—particularly in cancer precision medicine. Within the field of oncology, liquid biopsy can potentially be used to monitor tumor burden in the blood and to early detect emerging resistance in the course of targeted cancer therapies. An already approved application of liquid biopsy is the detection of epidermal growth factor receptor (EGFR) driver mutations in blood samples of lung cancer patients in those cases where no tissue biopsy is available. However, there is still currently considerable insecurity associated with blood-based DNA analytic methods that must be solved before liquid biopsy can be implemented for broader routine application in the diagnosis of cancer. In this article, the current state of development of liquid biopsy in molecular diagnostics from a pathology point of view is presented.
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V. Kloten und E. Dahl geben an, dass kein Interessenkonflikt besteht.
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Dahl, E., Kloten, V. Liquid-biopsy-Analysen mithilfe zellfreier DNA (cfDNA). Pathologe 36, 572–578 (2015). https://doi.org/10.1007/s00292-015-0078-z
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DOI: https://doi.org/10.1007/s00292-015-0078-z