Molekulargenetik und molekulare Diagnostik bei Schilddrüsenerkrankungen

Zusammenfassung

Somatische konstitutiv aktive Mutationen im TSH-Rezeptor-Gen sind in ca. 60 % der autonomen Schilddrüsen-Adenome und in bis zu 45 % der heißen Knoten hyperthyreoter multinodulärer Strumen nachweisbar. TSH-Rezeptor-Keimbahnmutationen wurden in Familien mit autosomal dominanter nicht-autoimmuner Hyperthyreose gefunden. Bei malignen Schilddrüsenerkrankungen ist die molekulare Diagnostik vor allem für den Nachweis von Mutationen im RET-Protoonkogen bei medullärem Schilddrüsenkarzinom etabliert.

Abstract

The reported frequency of constitutively activating TSH-receptor mutations in toxic thyroid nodules averages 60 %. In hot nodules of toxic multinodular goitres somatic constitutively activating TSHR mutations were found in up to 45 %. Constitutively activating germ line mutations in the TSH-receptor gene occur in families with autosomal dominant nonautoimmune hyperthyroidism. Concerning malignant thyroid diseases molecular methods are particularly available for the detection of RET-mutations in medullary thyroid carcinomas.

Schlüsselwörter

Autonomie - TSH-Rezeptormutation - medulläres Schilddrüsenkarzinom - Familienscreening

Key words

Thyroid autonomy - TSH-receptor mutation - medullary thyroid carcinoma - family screening

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