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Komplexität von PEComen

Diagnose, Molekulargenetik, klinisches Management

Complexity of PEComas

Diagnostic approach, molecular background, clinical management (German version)

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An Erratum to this article was published on 01 July 2019

This article has been updated

Zusammenfassung

Perivaskuläre epitheloidzellige Tumoren (PECome) gehören zu einer Familie von mesenchymalen Neoplasien mit Merkmalen der melanotischen und glattmuskulären Differenzierung. Die Morphologie der PECome ist sehr variabel und umfasst epitheloide und spindelige Zellen, oft mit klarem Zytoplasma und prominenten Nukleoli. Molekular sind die meisten PECome durch einen Funktionsverlust des TSC1-TSC2-Komplexes definiert. Zusätzlich wurde eine kleine Untergruppe von PEComen identifiziert, die Rearrangements des TFE3(Xp11)-Genlocus aufzeigen. Anhand von 3 Fallberichten sollen die diagnostischen Fallstricke und die Bedeutung der molekularen Charakterisierung von PEComen auch wegen der therapeutischen Konsequenzen näher dargestellt werden.

Abstract

Perivascular epithelioid cell neoplasms (PEComas) are a family of mesenchymal neoplasms with features of both melanotic and smooth muscle differentiation. PEComa morphology is highly variable and encompasses epithelioid to spindle cells often with clear cytoplasm and prominent nucleoli. Molecularly, most PEComas are defined by a loss of function of the TSC1/TSC2 complex. Additionally, a distinct small subset of PEComas harboring rearrangements of the TFE3 (Xp11) gene locus has been identified. By presenting a series of three case reports with distinct features, we demonstrate diagnostic pitfalls as well as the importance of molecular work-up of PEComas because of important therapeutic consequences.

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Change history

  • 01 July 2019

    Erratum zu:

    Pathologe 2019

    https://doi.org/10.1007/s00292-019-0614-3

    Der Artikel „Komplexität von PEComen. Diagnose, Molekulargenetik, klinisches Management“ wurde zunächst leider unter einer falschen Rubrik publiziert. Da der Beitrag bisher unveröffentlichte Daten enthält (Western Blots und …

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Authors and Affiliations

  1. Institut für Pathologie, Universität Regensburg, Franz-Josef-Strauß-Allee 11, 93053, Regensburg, Deutschland

    K. Utpatel, D. F. Calvisi, W. Dietmaier & M. Evert

  2. Klinik für Frauenheilkunde und Geburtshilfe, Universitätsmedizin Greifswald, Greifswald, Deutschland

    G. Köhler

  3. Abteilung für Hals-Nasen-Ohren-Heilkunde, Universität Regensburg, Regensburg, Deutschland

    T. Kühnel

  4. Abteilung für Gynäkologie, Krankenhaus Preetz, Preetz, Deutschland

    A. Niesel

  5. Abteilung für Radiologie, Universitätsklinikum Regensburg, Regensburg, Deutschland

    N. Verloh

  6. Klinik für Hämatologie und internistische Onkologie, Universitätsklinikum Regensburg, Regensburg, Deutschland

    M. Vogelhuber

  7. Abteilung für Thoraxchirurgie, Universitätsklinikum Regensburg, Regensburg, Deutschland

    R. Neu

  8. Radiologische Abteilung, Universitätsklinikum Greifswald, Greifswald, Deutschland

    N. Hosten

  9. Institut für Pathologie, Universitätsklinikum Essen, Essen, Deutschland

    H.-U. Schildhaus

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  1. K. Utpatel
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Correspondence to K. Utpatel.

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Interessenkonflikt

K. Utpatel, D. F. Calvisi, G. Köhler, T. Kühnel, A. Niesel, N. Verloh, M. Vogelhuber, R. Neu, N. Hosten, H.-U. Schildhaus, W. Dietmaier und M. Evert 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. Die Untersuchungen erfolgten unter Einhaltung der Vorgaben der Zentralen Ethikkommission der Bundesärztekammer.

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Utpatel, K., Calvisi, D.F., Köhler, G. et al. Komplexität von PEComen. Pathologe 40, 443–453 (2019). https://doi.org/10.1007/s00292-019-0614-3

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