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Molekulare Diagnostik bei melanozytären Tumoren

Molecular diagnostics of melanomas

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Zusammenfassung

Hintergrund

Technische Fortschritte haben das Verständnis der genetischen Alterationen beim malignen Melanom deutlich befördert. Die Verfeinerung der Methoden ermöglicht mittlerweile auch bei herkömmlich formalinfixiertem Material eine ausführliche molekularpathologische Analyse.

Fragestellung

Es werden die verschiedenen aktuell verwendeten genetischen Methoden, ihre Stärken und Schwächen sowie ihr Potenzial für die Zukunft dargestellt.

Material und Methode

Die verfügbare Literatur sowie Einschätzungen der maßgeblichen Experten und persönliche Erfahrungen mit den beschriebenen Techniken wurden berücksichtigt.

Ergebnisse

Die neuentwickelten genetischen Methoden können bei der Differenzierung zwischen benignen und malignen Tumoren helfen. Zusätzlich sind für die Entscheidung, welche der inzwischen verfügbaren zielgerichteten Therapien für metastasierte Tumoren geeignet sind, Sequenzierungsmethoden notwendig.

Schlussfolgerung

Molekulargenetische Methoden sind inzwischen beim malignen Melanom integraler Bestandteil der Diagnostik und Therapie. Wie jede Methode hat auch diese ihre Schwächen und Grenzen, jedoch ist zu erwarten, dass einige davon im Zuge der weiteren technischen Entwicklung behoben werden. Als komplementierende Methode zur klassischen histopathologischen Begutachtung durch einen Pathologen wird die Rolle molekularer Diagnostik bei melanozytären Tumoren vermutlich weiterhin an Bedeutung zunehmen.

Abstract

Background

Technical advances have led to an intricate understanding of genetic alterations occurring in melanomas. Methodological improvements have made it possible to carry out a detailed molecular analysis of formalin-fixed, paraffin-embedded tissue samples.

Objectives

The currently available molecular genetic assays are presented with their individual strengths and weaknesses as well as their future potential for molecular analysis.

Methods

The available literature, assessments from different experts, as well as personal experiences with the different methods are presented and discussed.

Results

The molecular genetic methods introduced in recent years can be helpful in making a distinction between benign and malignant tumors. Additionally, DNA sequencing approaches are essential for stratifying which patients with metastasized tumors will benefit from available targeted therapies.

Conclusion

Molecular genetic assays are already a key element in terms of diagnosing and treating malignant melanoma. Similar to other methods, genetic assays have their weaknesses and limits, however, some of these will most likely be overcome in the course of future methodological advances. The role of molecular diagnostics as a complementary approach to customary histopathological review by a pathologist is likely to increase in the future.

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Danksagungen

Der Autor bedankt sich bei Bastian Schilling, Annette Paschen, Alexandra Schweiger und Andreas Griewank für Vorschläge und Kommentare.

Einhaltung ethischer Richtlinien

Interessenkonflikt. K.G. Griewank gibt an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Authors and Affiliations

  1. Hautklinik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45147, Essen, Deutschland

    K.G. Griewank

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  1. K.G. Griewank
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Correspondence to K.G. Griewank.

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Griewank, K. Molekulare Diagnostik bei melanozytären Tumoren. Pathologe 36, 30–36 (2015). https://doi.org/10.1007/s00292-014-2054-4

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  • DOI: https://doi.org/10.1007/s00292-014-2054-4

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