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Multiple endokrine Neoplasien Typ 2

Multiple endocrine neoplasia type 2

Der Pathologe volume 31, pages 449–454 (2010)Cite this article

An Erratum to this article was published on 30 January 2011

Zusammenfassung

Das autosomal-dominant vererbte Syndrom der multiplen endokrinen Neoplasien vom Typ 2 (MEN2) zeigt die Hauptkomponenten medulläres Schilddrüsenkarzinom, Phäochromozytom und Hyperparathyreoidismus. Klinisch werden aufgrund der beteiligten Tumoren und des biologischen Verlaufs drei distinkte Subtypen unterschieden (MEN2A, MEN2B, familiäres medulläres Schilddrüsenkarzinom). Die Erkrankung wird durch Keimbahnmutationen des RET-Protoonkogens ausgelöst, wobei die Lokalisation der jeweils vorliegenden Mutation am Gen mit dem zeitlichen Auftreten des den Krankheitsverlauf bestimmenden medullären Schilddrüsenkarzinoms korreliert und daher enormen Einfluss auf das Management der betroffenen Patienten und deren Angehörigen hat. Im vorliegenden Übersichtsartikel werden die Morphologie und Klinik der MEN2-assoziierten Tumoren und ihrer Vorläuferläsionen zusammengefasst.

Abstract

Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant inherited cancer syndrome with the major components medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. Due to the clinical course three distinct subtypes are distinguished, MEN 2A, MEN 2B and familial medullary thyroid carcinoma. The disease is caused by germ-line mutations of the RET proto-oncogene and the localization of these mutations correlates with the onset of the development of medullary thyroid carcinoma, which is crucial for the clinical course and outcome of the disease. It therefore has a substantial influence on the clinical management of the affected patients and their relatives. This review summarizes the morphology and clinic of MEN 2-associated tumors and their respective precursor lesions.

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  1. Institut für Pathologie und Neuropathologie, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Deutschland

    S.-Y. Sheu &  K.W. Schmid

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  1. S.-Y. Sheu
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  2. K.W. Schmid
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Correspondence to K.W. Schmid.

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An erratum to this article can be found at http://dx.doi.org/10.1007/s00292-010-1412-0

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Sheu, SY., Schmid, K. Multiple endokrine Neoplasien Typ 2. Pathologe 31, 449–454 (2010). https://doi.org/10.1007/s00292-010-1389-8

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