Das medulläre Schilddrüsenkarzinom und die multiple endokrine Neoplasie Typ 2

Das medulläre Schilddrüsenkarzinom (medullary thyroid carcinoma, MTC) betrifft nur 3 % aller Schilddrüsenkarzinome: 75 % als sporadisches MTC (sMTC) und 25 % als hereditäres MTC (hMTC) im Rahmen der multiplen endokrinen Neoplasie Typ 2 (MEN2). Eine frühzeitige Diagnose ist durch die Bestimmung des Tumormarkers Calcitonin (Ctn) bei der Abklärung der Struma nodosa und den Nachweis der Mutation im RET-Protoonkogen in den MEN2-Familien möglich. Durch die adäquate Operation ist eine Heilung im Frühstadium möglich; im Spätstadium ist die Tyrosinkinase-Inhibitor-Therapie eine Option.

Abstract

Medullary thyroid carcinoma (MTC) is a rare malignancy and compromises only 3 % of all thyroid carcinomas. MTC cells secret calcitonin, which serves as a sensitive tumor marker for screening and follow-up of MTC. Calcitonin screening in patients with nodular goiter allows for early diagnosis of MTC and surgical curative treatment. In 25 % of patients MTC occurs as an integral part of multiple endocrine neoplasia type 2 (MEN2), an autosomal dominant inherited tumor syndrome. It is caused by germline mutations in the RET protooncogene. In gene carriers early diagnosis and treatment through prophylactic thyroidectomy is possible. MTC is a slowly growing tumor with a good prognosis and 5 and 10 year survival rates up to 80 and 60 %. In the follow-up a dynamic risk stratification allows for a personalized disease management. In symptomatic and progressive metastasizing MTC tyrosine kinase inhibitors are an effective therapy.

Schlüsselwörter

medulläres Schilddrüsenkarzinom - multiple endokrine Neoplasie Typ 2 - RET-Protoonkogen - Calcitonin - Tyrosinkinase-Inhibitor

Key words

medullary thyroid carcinoma - multiple endocrine neoplasia type 2 - RET-protooncogene - calcitonin - tyrosine kinase inhibitor

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