Das familiäres meduläres Schilddrüsenkarzinom ist eine autosomal dominante Erkrankung die durch Mutationen des RET-Gens und chimärer Genfusionen mit dem NTRK1-Gen hevorgerufen wird. Da sich das Karzinom aus den medullären Zellen entwickelt, die normalerweise für die Calcitoninsekretion verantwortlich sind, kann man bei den Patienten oft einen erhöhten Calcitonin-Spiegel finden.
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