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Familiäre Karzinome der Schilddrüse

Familial thyroid carcinomas

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Zusammenfassung

Rund 5% der differenzierten Karzinome mit Follikelzelldifferenzierung (papilläre Schilddrüsenkarzinome/PTC und follikuläre Schilddrüsenkarzinome/FTC) und 25–30% der medullären Schilddrüsenkarzinome (MTC) sind hereditär. Das hereditäre Karzinom der Schilddrüse tritt entweder als Teilmanifestation im Rahmen von Syndromen auf oder betrifft isoliert die Schilddrüse. Alle hereditären Karzinome treten im Vergleich zu ihren nichthereditären Formen in jüngeren Jahren auf und liegen häufig als multifokale Karzinome vor. Lediglich beim familiären MTC ist eine Vorläuferläsion, die neoplastische C-Zell-Hyperplasie, bekannt. In ausgeprägter Korrelation mit der Lokalisation der die Krankheit verursachenden Keimbahnmutation des RET-Protoonkogens zeigt das familiäre MTC typische Verläufe. Diese Erkenntnis macht man sich bei der Entscheidung des Zeitpunkts der chirurgischen Intervention (vollständige Thyreoidektomie) im Stadium der neoplastischen C-Zell-Hyperplasie vor der Entwicklung eines metastasierungsfähigen MTC zunutze. Alle übrigen Formen des hereditären Schilddrüsenkarzinoms lassen eine prophylaktische Entfernung der Schilddrüse, zumindest nach heutigem Kenntnisstand, nicht sinnvoll erscheinen.

Abstract

Approximately 5% of differentiated thyroid carcinomas with follicular cell differentiation, papillary thyroid carcinoma (PTC) and follicular thyroid carcinoma (FTC) and 25–30% of medullary thyroid carcinoma (MTC) are hereditary. They occur either as part of a defined syndrome or are confined to the thyroid gland. Compared to their sporadic non-hereditary counterparts hereditary thyroid carcinomas generally develop earlier and regularly show multifocal tumour growth. With the exception of familial MTC, which is preceded by neoplastic C cell hyperplasia, no precursor lesions of hereditary thyroid carcinoma are known. In strong correlation with the localisation of the germline mutation of the RET protooncogene, familial MTC shows a distinct clinical course which allows precise clinical decision-making for prophylactic thyroidectomy to prevent invasive MTC. According to current knowledge prophylactic thyroidectomy of all other types of hereditary thyroid carcinoma is not justified.

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  1. Institut für Pathologie und Neuropathologie, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Deutschland

    K.W. Schmid, S. Ting  & S.-Y. Sheu

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  1. K.W. Schmid
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  2. S. Ting
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  3. S.-Y. Sheu
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Correspondence to K.W. Schmid.

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Schmid, K., Ting , S. & Sheu, SY. Familiäre Karzinome der Schilddrüse. Pathologe 31, 485–488 (2010). https://doi.org/10.1007/s00292-010-1360-8

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