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Case Reports
. 2022 Feb;61(2):183-186.
doi: 10.1007/s00120-021-01662-x. Epub 2021 Oct 4.

[Epithelioid angiomyolipoma of the kidney after successfully treated malignant melanoma]

[Article in German]
H Rothe  1   2 , A Gaber  3 , B Dittrich  3 , M Nagel  4 , M Tuffaha  3 , B Hoschke  3
Affiliations
Case Reports

[Epithelioid angiomyolipoma of the kidney after successfully treated malignant melanoma]

[Article in German]
H Rothe et al. Urologe A. 2022 Feb.

Abstract
in English, German

Background: Therapy of epitheloid angiomyolipomas (eAML) may be challenging, since unlike classical angiomyolipomas this rare subclass of benign mesenchymal angiomyolipomas may present with lymph node metastases, local recurrent disease, and/or systemic metastatic disease in up to 30% of cases.

Objectives: We report here for the first time in Germany a case of eAML after successful treatment of malignant melanoma.

Materials and methods: Clinical and histological findings as well as results of the genetic analysis of the angiomyolipoma are presented.

Results: A somatic, truncating mutation of the TSC2 gene was found in the angiomyolipoma.

Conclusion: The relationship to histologically similar tumor entities are presented and therapeutic options based on the genetic classification are discussed.

Zusammenfassung: HINTERGRUND: Die Therapie der epitheloiden Angiomyolipome (eAML) kann eine Herausforderung darstellen, da bei dieser sehr seltenen Unterform der gutartigen mesenchymalen Angiomyolipome anders als bei den klassischen Angiomyolipomen bei bis zu 30 % der Fälle Lymphknotenmetastasen, lokale Rezidive und Fernmetastasen auftreten.

Ziel der arbeit: Wir berichten hier nach unserer Recherche erstmals in Deutschland von einem Fall von eAML nach stattgehabtem malignem Melanom.

Material und methoden: Neben der Klinik und Histologie wird die genetische Untersuchung des Tumorgewebes dargestellt.

Ergebnisse: Es fand sich eine somatische, trunkierende Mutation des TSC2-Gens („tuberous sclerosis complex“) im Angiomyolipom.

Schlussfolgerung: Die Beziehung zu verwandten Tumorentitäten in der histologischen Diagnostik wird dargestellt und eine mögliche Rolle der genetischen Diagnostik für die Therapieplanung diskutiert.

Keywords: Epithelioid angiomyolipoma; Melanoma; Renal tumor; Second primary tumor; Tuberous sclerosis complex gene mutations; Tumor suppressor gene defect.

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References

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