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Genetik von Schilddrüsenknoten und Schilddrüsenkarzinomen

Genetics of thyroid nodules and thyroid carcinoma

  • Schwerpunkt: Schilddrüsenerkrankungen
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Zusammenfassung

Schilddrüsentumoren sind außerordentlich heterogen und weisen unterschiedliche genetische Signaturen auf. Schilddrüsenkarzinome sind monoklonal, der histologische Phänotyp wird weitgehend durch die Art der somatischen Mutationen bestimmt. Die Mutationslast ist in differenzierten Schilddrüsenkarzinomen sehr niedrig, in gering differenzierten und anaplastischen Karzinomen hingegen hoch. In der zytologischen Differenzialdiagnostik von Feinnadelpunktaten kann der Mutationsnachweis hilfreich sein, eine prognostische Bedeutung hat er meist nicht. Von großer Relevanz ist die Molekularpathologie hingegen für die Entwicklung „zielgerichteter“ Therapien bei fortgeschrittenen Schilddrüsenkarzinomen und für immunonkologische Therapiekonzepte.

Abstract

Thyroid nodules are heterogeneous tumors with variable genetic signatures. Thyroid cancers are monoclonal lesions with a defined histomorphology that largely depends on the underlying somatic mutation. While the mutation rate is generally low in differentiated thyroid cancers, poorly differentiated and anaplastic thyroid cancers show a high mutation load. The identification of somatic mutations in fine needle aspirates can be helpful for the differential diagnostics of thyroid nodules; however, a prognostic contribution is less certain. The molecular pathology of thyroid tumors is helpful for the development of targeted therapies and may infer novel immuno-oncological concepts for advanced aggressive thyroid cancers.

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  1. Klinik für Endokrinologie, Diabetologie und Stoffwechsel, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45147, Essen, Deutschland

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H. Lehnert, Lübeck

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Führer, D. Genetik von Schilddrüsenknoten und Schilddrüsenkarzinomen. Internist 59, 674–680 (2018). https://doi.org/10.1007/s00108-018-0454-x

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