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Genexpressionsanalysen beim Mammakarzinom

Ein neues diagnostisches Werkzeug in der Pathologie

Gene expression analysis in breast cancer

A new diagnostic tool in pathology

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Zusammenfassung

Als Grundlage einer individualisierten Therapie kommt der Untersuchung molekularer Biomarker eine immer größere Bedeutung zu. Beim Mammakarzinom werden derzeit standardmäßig die Hormonrezeptoren, HER2 sowie ggf. Ki67 bestimmt. In neuerer Zeit gibt es insbesondere für hormonrezeptorpositive HER2-negative Karzinome eine zusätzliche Möglichkeit der Durchführung von Genexpressionstests. Hier werden innerhalb des Tumors Gene gemessen, die zum einen proliferationsassoziiert sind und zum anderen Informationen über die Aktivität von Hormonrezeptorsignalwegen liefern. In einem standardisierten Verfahren können diese Genexpressionswerte genutzt werden, um Patientinnen zu identifizieren, die unter einer alleinigen antihormonellen Therapie eine sehr gute Prognose haben. Bei dieser Patientengruppe kann dann auf die Chemotherapie verzichtet werden. Der EndoPredict-Test wurde an 2 großen Kohorten aus klinischen Studien der österreichischen Brustkrebsstudiengruppe ABCSG validiert und im Ringversuch in deutschen Instituten für molekulare Pathologie methodisch etabliert. Er kann lokal in der Pathologie durchgeführt werden und bietet Zusatzinformationen zu den bisher verwendeten Prognoseparametern.

Abstract

Molecular biomarker analysis is increasingly being used as a basis for individualized therapy selection. In breast cancer established standard biomarkers are hormone receptors, HER2 and if indicated Ki67. In particular for hormone receptor positive, HER2 negative tumors, gene expression analysis provides additional information on proliferation and hormone receptor signalling. The results of the gene expression tests can be used to identify patients with a very good prognosis under an exclusive endocrine therapy. This group of patients can then be treated without conventional chemotherapy. The EndoPredict assay was validated in two large cohorts from clinical studies of the Austrian breast cancer study group (ABCSG). Furthermore, using a round robin test, the test method was established in several German institutes of molecular pathology. The EndoPredict assay can be carried out in local institutes of pathology and offers additional information to existing standard prognostic parameters.

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Einhaltung ethischer Richtlinien

Interessenkonflikt. C. Denkert weist auf folgende Beziehung hin: er ist Mitgründer von Sividon Diagnostics. Alle angewandten Verfahren stehen im Einklang mit den ethischen Normen der verantwortlichen Kommission für Forschung am Menschen (institutionell und national) und mit der Deklaration von Helsinki von 1975 in der revidierten Fassung von 2008. Alle Patienten wurden erst nach erfolgter Aufklärung und Einwilligung in die Studie eingeschlossen.

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  1. Institut für Pathologie, Charité-Universitätsmedizin Berlin, Campus Mitte, Charitéplatz 1, 10117, Berlin, Deutschland

    C. Denkert

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Denkert, C. Genexpressionsanalysen beim Mammakarzinom. Pathologe 34, 413–418 (2013). https://doi.org/10.1007/s00292-013-1781-2

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