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Hereditäres medulläres Schilddrüsenkarzinom

Hereditary medullary thyroid cancer

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Zusammenfassung

Ausgehend von parafollikulären C‑Zellen entwickelt sich über eine C‑Zell-Hyperplasie ein medulläres Schilddrüsenkarzinom (MTC), das bei multipler endokriner Neoplasie (MEN) Typ 2A und 2B bereits in den ersten Lebensjahren auftreten kann. Zur Diagnose und Verlaufskontrolle eignen sich basales Kalzitonin und das karzinoembryonale Antigen (CEA). Die Prognose ist davon abhängig, in welchem Stadium die Erkrankung diagnostiziert wird, mit dem RET-Protoonkogen gibt es eine gute Genotyp-Phänotyp-Korrelation, die zur Risikoabschätzung beitragen kann. Die risikostratifizierte prophylaktische Thyreoidektomie spielt bei der Prognose der Genträger die entscheidende Rolle.

Abstract

Parafollicular C cells progress via C cell hyperplasia to medullary thyroid cancer (MTC), which can be present even in the first years of life in multiple endocrine neoplasia (MEN) type 2A and 2B patients. Basal calcitonin and carcinoembryonic antigen (CEA) are useful tumor markers for the diagnosis and monitoring. The prognosis depends on the stage when the disease is diagnosed and there is a good genotype-phenotype correlation with the RET proto-oncogene, which can be used for estimation of the risk. The risk-stratified prophylactic thyroidectomy plays a decisive role in the prognosis of known gene mutation carriers.

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Authors and Affiliations

  1. Klinik für Endokrine Chirurgie, Schön Klinik Eilbek, Dehnhaide 120, 22081, Hamburg, Deutschland

    V. Fendrich & A. Zahn

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  1. V. Fendrich
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  2. A. Zahn
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Correspondence to V. Fendrich.

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V. Fendrich und A. Zahn geben an, dass kein Interessenkonflikt besteht.

Für diesen Beitrag wurden von den Autor/-innen keine Studien an Menschen oder Tieren durchgeführt. Für die aufgeführten Studien gelten die jeweils dort angegebenen ethischen Richtlinien.

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C. T. Germer, Würzburg

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Fendrich, V., Zahn, A. Hereditäres medulläres Schilddrüsenkarzinom. Chirurgie 94, 393–399 (2023). https://doi.org/10.1007/s00104-023-01824-x

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