Diagnose und prädiktive Analysen an zytologischen und bioptischen Tumorproben nicht-kleinzelliger Lungenkarzinome: Aktuelle Strategien und Herausforderungen

 

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Zusammenfassung

Personalisierte Medizin wird zunehmend zum Standard in der Behandlung des fortgeschrittenen nicht-kleinzelligen Lungenkarzinoms. Tumorspezifische Therapien auf Basis von Biomarkeranalysen, z. B. dem Nachweis von EGFR Mutationen oder Translokationen des ALK-Genlokus, übertreffen die undifferenziert eingesetzte Kombinationschemotherapie hinsichtlich des klinischen Ansprechens und des progressionsfreien Überlebens deutlich. Der Nachweis prädiktiver molekularer Alterationen erfordert jedoch eine hohe Kompetenz im Umgang mit Zell- und Gewebeproben. Eine Herausforderung ist hierbei häufig die meist geringe Menge an verfügbarem Untersuchungsmaterial, an welchem sowohl eine spezifische Tumorsubtypisierung als auch ergänzende Biomarkeranalysen durchgeführt werden müssen. Aktuell gibt es nur wenige standardisierte und evidenzbasierte Empfehlungen bezüglich der Probengewinnung, der Materialprozessierung, der Analyse und der Befundung. Entsprechende qualitätsoptimierte Verfahren erfordern eine fachübergreifende Zusammenarbeit, um klinische und pathologische Aspekte gleichermaßen zu berücksichtigen. Um hierfür eine Basis zu schaffen, wurden unterschiedliche Verfahren, Methoden und Protokolle interdisziplinär diskutiert und bewertet. Ein Schwerpunkt lag hierbei neben den unterschiedlichen Verfahren der zytologischen und bioptischen Probengewinnung in der Prozessierung des Materials, um den gestiegenen Anforderungen an Diagnostik und Prädiktion gerecht zu werden. Die dargestellten Einflussgrößen der Probengewinnung und -aufarbeitung sind unter dem Aspekt einer qualitativ hochwertigen und standardisierten Diagnostik von wachsender Bedeutung in der multidisziplinären, zunehmend komplexer werdenden Betreuung von Lungenkrebspatienten.

Abstract

Personalised medicine is becoming the standard care for advanced non-small cell lung cancer. Tumour-specific therapies based on biomarker analyses, e. g., EGFR mutations or translocations of the ALK gene locus, result in a superior patient outcome compared to unselected therapy approaches. However, predictive molecular analyses can be challenging and require significant experience with cell- and tissue-based diagnostic methods. The major challenge relates to the sometimes low amount of available tumour material for both diagnostic and predictive analyses. As yet, there are no standardised or evidence-based recommendations concerning biopsies, specimen processing, and analyses. Respective guidelines require combined interdisciplinary actions to consider both clinical and pathological aspects. In order to establish a basis for high quality procedures, different approaches, methods, and protocols were interdisciplinary discussed with an emphasis on cytological specimens. Detailed evaluation of the parameters and consented recommendations might contribute to optimised strategies in the interdisciplinary, more and more complex care of non-small cell lung cancer patients.

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