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Von der Paneldiagnostik zu umfassenden genomischen Analysen

Informationsüberfluss oder Zugewinn?

From panel diagnostics to comprehensive genomic analysis

Infobesity or empowerment?

  • Schwerpunkt: Präzisionsonkologie
  • Published:
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Zusammenfassung

Die Präzisionsonkologie spielt eine zunehmend wichtigere Rolle in der Therapie maligner Erkrankungen. Die Indikationsstellung zielgerichteter Therapien bedarf hierbei der molekularpathologischen Aufarbeitung des Tumorgewebes. Dies geschieht derzeit üblicherweise mittels gezielter Panelsequenzierung (Next Generation Sequencing) durch die – in Abhängigkeit vom Paneldesign und der verwendeten Methode – alle für die Therapieentscheidung relevanten zugelassenen prädiktiven Biomarker oder therapeutischen Zielstrukturen untersucht werden können. Dies schließt auch Genfusionen und Kopienzahlveränderungen ein. Gleichwohl gibt es klinische Szenarien, in denen umfassendere genomische Ansätze (Ganzexom- oder Ganzgenom- sowie Transkriptomanalysen) erwogen werden können. Diese müssen in einen Studienkontext eingebunden sein. Die vorliegende Übersicht beschreibt Kernaspekte der jeweiligen Profilingverfahren und zeigt mögliche Anwendungsgebiete auf.

Abstract

Precision oncology is obtaining a central role in the therapy of malignant diseases. The indication for targeted therapy is based on the identification of molecular targets for which next-generation sequencing (NGS) is commonly used nowadays. All approved predictive biomarkers and molecular targets, including gene fusions and copy number alterations, can be identified depending on panel design and method applied. Some clinical scenarios, however, may require more holistic genomic approaches, such as whole-genome/whole-exome and transcriptome analysis, which must be embedded in a clinical trial. Here, key aspects and applications of each method are summarized and discussed.

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Authors and Affiliations

  1. Pathologisches Institut, Molekularpathologisches Zentrum, Universitätsklinikum Heidelberg, Heidelberg, Deutschland

    J. Leichsenring, D. Kazdal, C. Ploeger, M. Allgäuer, V. Endris, A.‑L. Volckmar, O. Neumann, M. Kirchner, R. Penzel, E. Rempel, J. Budczies, P. Schirmacher &  A. Stenzinger

  2. Abteilung Translationale Medizinische Onkologie, Nationales Centrum für Tumorerkrankungen (NCT) Heidelberg und Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Deutschland

    S. Fröhling

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  1. J. Leichsenring
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  2. D. Kazdal
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  3. C. Ploeger
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  4. M. Allgäuer
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  5. V. Endris
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  6. A.‑L. Volckmar
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  9. R. Penzel
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  14. A. Stenzinger
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Correspondence to A. Stenzinger.

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Interessenkonflikt

J. Leichsenring, D. Kazdal, C. Ploeger, M. Allgäuer, V. Endris, A.-L. Volckmar, O. Neumann, M. Kirchner, R. Penzel, E. Rempel, J. Budczies, P. Schirmacher, S. Fröhling und A. Stenzinger geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autoren keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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Schwerpunktherausgeber

K. W. Schmid, Essen

H. A. Baba, Essen

H.-U. Schildhaus, Essen

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Leichsenring, J., Kazdal, D., Ploeger, C. et al. Von der Paneldiagnostik zu umfassenden genomischen Analysen. Pathologe 40, 235–242 (2019). https://doi.org/10.1007/s00292-019-0608-1

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