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Genetische Grundlagen seborrhoischer Keratosen und epidermaler Nävi

Genetic basis of seborrheic keratosis and epidermal nevi

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Zusammenfassung

Seborrhoische Keratosen (SK) und epidermale Nävi (EN) sind gutartige Hauttumoren bzw. kongenitale Fehlbildungen. Pathogenetisch bedeutsam sind aktivierende onkogene Mutationen. Bei den SK findet man ein breites Spektrum an somatischen Mutationen in den Genen FGFR3, PIK3CA, RAS, AKT1 und EGFR. Im Unterschied zu malignen Tumoren sind SK jedoch genetisch stabil und zeigen keine Alterationen von Tumorsuppressor-Genen. EN werden durch postzygotische aktivierende Hotspot-Mutationen von FGFR3, PIK3CA und insbesondere HRAS verursacht, die zu einem genetischen Mosaik führen. Je nach Zeitpunkt der Mutation während der Embryogenese variieren die Ausdehnung der Fehlbildung sowie das Differenzierungspotenzial der mutierten Zellen in verschiedene Gewebetypen. Das genetische Mosaik kann auch zum späteren Wachstum gut- und bösartiger (Adnex-)Tumoren prädisponieren.

Abstract

Seborrheic keratosis (SK) and epidermal nevi (EN) represent benign skin tumors and congenital lesions, respectively. Oncogenic mutations are fundamentally involved in their pathogenesis and SK is characterized by a broad spectrum of somatic mutations in the FGFR3, PIK3CA, RAS, AKT1 and EGFR genes. In contrast to malignant tumors, SK is genetically stable without alterations of tumor suppressor genes. The ENs are caused by postzygotic activating hot spot mutations in FGFR3, PIK3CA and particularly HRAS, resulting in a genetic mosaicism. The size of the lesions and the differentiation potential of the mutated cell into various tissue types depends on the time point of the mutation during embryogenesis. The genetic mosaic may predispose to a later growth of benign and malignant (adnexal) tumors

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Einhaltung ethischer Richtlinien

Interessenkonflikt. C. Hafner, H. Hafner und L. Groesser geben an, dass kein Interessenkonflikt besteht. Dieser Beitrag beinhaltet keine Studien an Menschen oder Tieren.

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Authors and Affiliations

  1. Dermatohistologisches Labor, Sonnenstr. 7, 80331, München, Deutschland

    C. Hafner

  2. Klinik und Poliklinik für Dermatologie, Universitätsklinikum Regensburg, Regensburg, Deutschland

    C. Hafner, H. Hafner & L. Groesser

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  1. C. Hafner
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  2. H. Hafner
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  3. L. Groesser
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Correspondence to C. Hafner.

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Hafner, C., Hafner, H. & Groesser, L. Genetische Grundlagen seborrhoischer Keratosen und epidermaler Nävi. Pathologe 35, 413–423 (2014). https://doi.org/10.1007/s00292-014-1928-9

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