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Molekulargenetik in der dermatologischen Diagnostik

The role of molecular genetics in dermatologic diagnosis

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Zusammenfassung

Molekulargenetische Methoden ermöglichten in den letzten Jahrzehnten eine immense Zunahme unseres Wissens über biologische Vorgänge in gesunden Individuen und verbesserten unser Verständnis über pathophysiologische Prozesse bei zahlreichen dermatologischen Krankheiten. Diese Methoden wurden initial im Rahmen der molekularbiologischen bzw. genetischen Grundlagenforschung entwickelt und erfahren zunehmend eine translative Anwendung als anspruchsvolles zusätzliches Diagnostikum. Hierzu zählen Immunhistochemie, Polymerasekettenreaktion (PCR), Fluoreszenz-in-situ-Hybridisierung (FISH), Chromogen-in-situ-Hybridisierung (CISH), komparative genomische Hybridisierung (CGH) und Mikroarray-Technologie. Die Immunhistochemie und PCR-Analyse sind bereits zu einem Grad standardisierbar, dass sie für die Routinediagnostik zahlreicher dermatologischer Krankheiten eingesetzt werden können. Andere wie FISH und CISH erfahren derzeit eine Etablierung für spezielle Indikationen bei einigen Großlaboratorien, wohingegen CGH und Mikroarrays noch einzelnen wenigen Labors vorbehalten sind, die sich mit sehr speziellen Fragestellungen auseinandersetzen. Diese modernen Methoden haben das Potenzial, als Ergänzung zur traditionellen Diagnostik gerade in solchen Fällen wichtige Informationen zu liefern, in denen die konventionelle histomorphologische Beurteilung an ihre Grenzen stößt. Darüber hinaus bieten sie die Möglichkeit, Aussagen über Prognose, Verlauf und Therapieoptionen zu machen.

Abstract

Modern molecular techniques have tremendously expanded our knowledge about the biologic processes in healthy individuals as well as our understanding about the pathologic events in an increasing number of dermatological diseases. These technologies initially came from basic molecular biology and genetic research but have become firmly anchored in clinical diagnosis approaches. Included in this group are immunohistochemistry (IHC), polymerase chain reaction (PCR), fluorescence in situ hybridization (FISH), chromogen in situ hybridization (CISH), comparative genomic hybridization (CGH), and microarray technology. IHC and PCR already belong to the armamentarium for routine daily diagnostics due to their high degree of standardization and reproducibility, ease of use and relatively low costs. Others like FISH and CISH are currently employed for specific indications in a growing number of larger laboratories, whereas CGH and microarray technology still remain in the hands of a few highly specialized laboratories. These new ancillary methods will help to improve diagnostic accuracy particularly in cases in which conventional histopathology is ambiguous. In addition, they will provide new and important information concerning the prognosis, progression and response rate to therapies in several particular malignant diseases.

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  1. Klinik und Poliklinik für Dermatologie und Allergologie, Ludwig-Maximilians-Universität München, Frauenlobstr. 9–11, 80337, München, Deutschland

    M. Braun-Falco & T. Ruzicka

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  1. M. Braun-Falco
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  2. T. Ruzicka
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Correspondence to M. Braun-Falco.

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Braun-Falco, M., Ruzicka, T. Molekulargenetik in der dermatologischen Diagnostik. Hautarzt 63 (Suppl 1), 45–52 (2012). https://doi.org/10.1007/s00105-011-2295-6

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  • DOI: https://doi.org/10.1007/s00105-011-2295-6

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