Der Schilddrüsenknoten: molekulargenetische und zytogenetische Aspekte

Zusammenfassung.

Knotenbildungen der Schilddrüse sind in Jodmangelgebieten überaus häufig. Während die genauen Zusammenhänge des Jodmangels mit der Knotenbildung unklar bleiben, ist eine Reihe molekularer Veränderungen bei bestimmten Knotentypen inzwischen klar zu fassen. Die Mehrzahl benigner und fast alle malignen Knoten entstehen monoklonal und sind damit echte Tumoren. Toxische Adenome gehen häufig auf Mutationen des TSH-Rezeptors zurück. Euthyreote Knotenstrumen werden mit Veränderungen auf Chromosom 2 und 14 in Verbindung gebracht. Das papilläre Schilddrüsenkarzinom weist Fusionsgene auf, die zu einer Tyrosin-Kinase-Aktivierung führen. Follikuläre Neoplasien tragen häufig ras-Mutationen. Das anaplastische Schilddrüsenkarzinom ist eng mit p53 Mutationen assoziiert. Unmittelbare therapeutische Konsequenzen ergeben sich aus diesen Erkenntnissen bisher nicht. Allerdings öffnen diese molekularen Kenntnisse den Weg zu einer hoch-sensitiven und spezifischen präoperativen Diagnostik der Schilddrüsentumoren.

The thyroid nodule- molecular, genetic and cytogenetic aspects.

Formation of thyroid nodules is frequent in areas with iodine deficiency. The sequence leading from iodine deficiency to formation of nodules is only partially understood. However, knowledge about a number of molecular aberrations in different types of nodules has considerably grown. The majority of benign and nearly all malignant thyroid nodules are of monoclonal origin and therefore represent true tumors. Toxic adenoma is frequently caused by mutations of the TSH receptor. Euthyroid multinodular goiter may be associated with changes on chromosomes 2 and 14. Papillary thyroid cancer is frequently caused by fusion genes resulting in activation of tyrosine kinases. Follicular neoplasms often carry ras mutations. Anaplastic thyroid cancer is closely associated with p53 mutations. As yet, there are no direct therapeutic consequences of these discoveries. However, the detalled molecular knowledge offers the perspective of a highly sensitive and specific pre-operative diagnosis of thyroid nodules.

Schlüsselwörter:

Struma - Schilddrüsen-Knoten - Übersicht - Schilddrüsenkarzinom

Key words:

goiter - thyroid nodule - review - thyrold cancer

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