Entstehung eines hepatozellulären Karzinoms in einem inflammatorischen Adenom mit β-Catenin-Mutation bei einem Patienten mit hepatozellulärer Adenomatose und HNF1α-Keimbahnmutation

Zusammenfassung

Mutationen des hepatocyte nuclear factor 1 α-(HNF1α) Gens lösen einen MODY3-Diabetes aus und sind mit einer hepatozellulären Adenomatose assoziiert. Eine maligne Transformation von HNF1α-mutierten hepatozellulären Adenomen ist selten. Wir beschreiben hier den Fall eines 28-jährigen Mannes mit heterozygoter HNF1α-Keimbahnmutation mit MODY3-Diabetes und einer hepatozellulären Adenomatose mit multiplen, HNF1α-inaktivierten Adenomen, der ein inflammatorisches Adenom mit β-Catenin-Mutation mit maligner Transformation in ein gut differenziertes hepatozelluläres Karzinom (HCC) entwickelte.

Abstract

Hepatocyte nuclear factor 1 α (HNF1α) mutations cause maturity-onset diabetes of the young (MODY) type 3 and are associated with hepatocellular adenomatosis. Malignant transformation of HNF1α-mutated hepatocellular adenomas is rare. We report a case of a 28-year-old man with HNF1α-inactivated adenomatosis who developed an inflammatory adenoma with β catenin mutation with malignant transformation into a well-differentiated hepatocellular carcinoma (HCC).

Schlüsselwörter

Hepatozelluläres Karzinom - hepatozelluläres Adenom - hepatozelluläre Adenomatose - maligne Transformation - MODY3 - β-Catenin - HNF1α - hepatocyte nuclear factor 1 alpha - inflammatorisches Adenom

Key words

hepatocellular carcinoma - hepatocellular adenoma - hepatic adenomatosis - malignant transformation - MODY3 - β-catenin - HNF1α - hepatocyte nuclear factor 1 alpha - inflammatory adenoma

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