Zusammenfassung
Personalisierte Therapiekonzepte, bei denen der Wirkstoff auf die genetischen Veränderungen im Tumor des Patienten abgestimmt ist, haben in den letzten Jahren zu einem Paradigmenwechsel in der Onkologie geführt. Eine umfassende molekulardiagnostische Tumorcharakterisierung vor Therapiebeginn ist daher essenziell, um die für den Patienten optimale Therapie auszuwählen. Die kontinuierlich steigende Zahl therapierbarer Genveränderungen und bekannter Resistenzmechanismen bei limitierter Verfügbarkeit von Probenmaterial stellt die molekulare Diagnostik dabei vor völlig neue Herausforderungen. Die Möglichkeit, nicht nur in Paraffin eingebettetem Tumorgewebe, sondern auch in Zytologien oder sogar zirkulierender Tumor-DNA Mutationen, Translokationen und Kopienzahlveränderungen bestimmen zu können, dehnt die diagnostischen Möglichkeiten erheblich aus.
Abstract
Personalized therapy concepts in which the active agent is adapted to genetic alterations in the tumor of the patient, have in recent years led to a paradigm shift in oncology. A comprehensive molecular diagnostic tumor characterization is therefore essential before initiating therapy in order to select the optimal therapy for the patient. The continuously increasing number of genetic alterations which can be treated and known resistance mechanisms together with limited availability of test material represents a completely new challenge for molecular diagnostics. The possibility of being able to determine mutations, translocations and changes in the number of copies not only from paraffin-embedded tumor tissue but also from cytological material and even circulating tumor DNA, substantially extends the diagnostic options.
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L.C. Heukamp und L. Bubendorf geben an, dass kein Interessenkonflikt besteht.
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R. Knüchel-Clarke, Aachen
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Heukamp, L., Bubendorf, L. Zytologie als Material für die Molekularpathologie. Pathologe 36, 566–571 (2015). https://doi.org/10.1007/s00292-015-0059-2
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DOI: https://doi.org/10.1007/s00292-015-0059-2