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Multiple endokrine Neoplasien

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Praxis der Viszeralchirurgie

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Zusammenfassung

Die multiple endokrine Neoplasie Type 1 (MEN 1) ist, wie von Wermer 1954 bereits vermutet, ein autosomal-dominant vererbtes Tumorsyndrom, das vor allem durch das Auftreten von Neoplasien der Nebenschilddrüsen (primärer Hyperparathyreoidismus), der Inselzellen des Pankreas (endokrine Pankreastumoren) und der Adenohypophyse charakterisiert ist. Es wird nach seinem Erstbeschreiber auch Wermer-Syndrom genannt. Die klassische Trias wird ergänzt durch Nebennierentumoren, neuroendokrine Tumoren (Karzinoide) der Lunge, des Thymus und des Vorderdarmes. Ebenso werden Lipome sowie sehr selten Ependymome des Rückenmarks beschrieben (Carty et al. 1998). Typisch sind multilokuläre endokrine Tumoren, die zu komplexen klinischen Manifestationen führen können (Tab. 6.1). Die Nebenschilddrüsen sind mit 80–100% am häufigsten betroffen. Pankreatikoduodenale endokrine Tumoren (PNET) stellen mit 40–80% die zweithäufigste Manifestation des MEN-1-Syndroms dar. Meist finden sich nebeneinander mehrere Tumoren, die immunhistochemisch häufig unterschiedliche Hormone exprimieren, wobei allerdings ein Hormon dominiert und das klinische Syndrom bestimmt. PNET, vor allem die Gastrinome, haben eine bedeutende maligne Entartungstendenz und sind bei MEN-1-Patienten heutzutage die häufigste Todesursache (Doherty et al. 1998; Dean et al. 2000). Die Kenntnis des verursachenden genetischen Defekts (Keimbahnmutation des Menin-Gens auf Chromosom 11q13) ermöglicht einerseits durch genetische Screening-Untersuchungen die Erkennung betroffener Familienmitglieder als auch die Untersuchung von Patienten mit MEN-1-assoziierten Tumoren auf eine mögliche vererbte Veranlagung. Trägern einer Mutation werden regelmäßige Früherkennungsuntersuchungen empfohlen, um frühzeitig die Entwicklung syndromassoziierter benigner und maligner Tumoren zu diagnostizieren und eine Therapie zu ermöglichen (Waldmann et al. 2007).

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Author notes

  1. P. Langer

    Present address: Allgemein-, Viszeral- und Thoraxchirurgie, Städtisches Klinikum Hanau GmbH, Leimenstr. 20, 36450, Hanau, Deutschland

  2. C.L. López

    Present address: Visceral-, Thorax- und Gefäßchirurgie, Universitätsklinikum Marburg, Baldingerstr., 35043, Marburg, Deutschland

  3. D.K. Bartsch

    Present address: Visceral-, Thorax- und Gefäßchirurgie, Universitätsklinikum Marburg, Baldingerstr., 35043, Marburg, Deutschland

  4. W. Höppner

    Present address: BioGlobe GmbH, Grandweg 64, 22529 , Hamburg, Deutschland

  5. A. Machens

    Present address: , Beatestraße 3c, 13505 , Berlin, Deutschland

  6. O. Gimm

    Present address: Dept. of Clinical and Experimental Medicine, Linköping University, 58185 , Linköping, Deutschland

  7. H. Dralle

    Present address: Klinikum Kröllwitz, Martin-Luther-Universität Halle-Wittenberg, Ernst-Grube-Str. 40, 06120 , Halle, Deutschland

  8. V. Fendrich

    Present address: Klinik für Allgemein- und Visceralchirurgie, Universitätsklinikum, Theodor-Stern-Kai 7, 60590, Frankfurt/M., Deutschland

  9. S. K. Bohlander

    Present address: Standort Marburg, Zentrum für Humangenetik, Universitätsklinikum Gießen und Marburg, Baldingerstr. , 35033, Marburg, Deutschland

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    1. Universitätsklinikum Freiburg, Hugstetter Str. 49, Freiburg, 79106, Germany

      Jörg Rüdiger Siewert

    2. Med. Zentrum für Operative Medizin I, Klinik für Allgemeinchirurgie, Univ.Klinikum Marburg, Baldingerstr., Marburg, 35033, Germany

      Matthias Rothmund

    3. Universitätsklinikum, Chirurgische Klinik und Poliklinik, RWTH Aachen, Pauwelsstr. 30, Aachen, 52074, Germany

      Volker Schumpelick

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    Langer, P. et al. (2013). Multiple endokrine Neoplasien. In: Siewert, J., Rothmund, M., Schumpelick, V. (eds) Praxis der Viszeralchirurgie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-14285-7_6

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