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Molekularpathologie der Weichgewebstumoren: Beitrag zur Diagnostik und Therapieprädiktion

Molecular pathology of soft tissue tumors: Contribution to diagnosis and therapy prediction

  • Schwerpunkt: Molekularpathologie
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Zusammenfassung

Mesenchymale Tumoren stellen aufgrund ihrer Morphologie für den Pathologen oft eine diagnostische Herausforderung dar. Von diagnostischem Nutzen kann daher der Nachweis tumorspezifischer Mutationen oder chromosomaler Aberrationen, wie Translokationen und Fusionen, Amplifikationen oder Deletionen sein. Die Methode der Wahl für die Routinediagnostik ist derzeit bei den meisten Veränderungen die Fluoreszenz-in-situ-Hybridisierung. Daneben kommen auch die reverse Transkriptase-Polymerasekettenreaktion (PCR), Sequenzierungen sowie spezifische immunhistochemische Assays zum Einsatz. „Next generation sequencing“ hat zur Identifizierung bislang unbekannter Aberrationen beigetragen. Hauptsächlich dient die Molekularpathologie bei Sarkomen der differenzialdiagnostischen Abgrenzung verschiedener Entitäten. Auch im Hinblick auf eine personalisierte Therapie kann die Molekularpathologie zum Nachweis prädiktiver Marker genutzt werden.

Abstract

Soft tissue tumors are often challenging for pathologists on the basis of morphology alone; therefore, tumor-specific chromosomal aberrations, such as translocations and fusions, amplifications or deletions can be diagnostically useful. Fluorescence in situ hybridization is widely used for the detection of most aberrations in routine diagnostics. Furthermore, reverse transcriptase PCR, sequencing and specific immunohistochemical assays are also applied. Next generation sequencing has already contributed to the identification of hitherto unknown aberrations. Molecular pathology is mainly used in sarcomas to discriminate between different tumor entities. In terms of personalized therapy and targeted treatment, molecular pathology can be utilized to detect predictive markers.

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Authors and Affiliations

  1. Institut für Pathologie, Universitätsmedizin Göttingen, Robert-Koch-Str. 40, 37075, Göttingen, Deutschland

    K. Schmitz &  H.-U. Schildhaus

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  1. K. Schmitz
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  2. H.-U. Schildhaus
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Correspondence to H.-U. Schildhaus.

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K. Schmitz und H.-U. Schildhaus geben an, dass kein Interessenskonflikt besteht.

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C. Röcken, Kiel

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Schmitz, K., Schildhaus, HU. Molekularpathologie der Weichgewebstumoren: Beitrag zur Diagnostik und Therapieprädiktion. Pathologe 36, 126–136 (2015). https://doi.org/10.1007/s00292-015-0010-6

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  • DOI: https://doi.org/10.1007/s00292-015-0010-6

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