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Molekulare Pathologie der testikulären Keimzelltumoren: ein Update

Molecular pathology of testicular germ cell tumors: an update

  • Schwerpunkt: Uropathologie
  • Published:
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Zusammenfassung

Keimzelltumoren (KZT) stellen eine heterogene Gruppe von benignen und malignen Tumoren dar. Basierend auf ihren unterschiedlichen biologischen Fähigkeiten und ihrer Herkunft werden KZT in 5 verschiedene Gruppen eingeteilt. Maligne seminomatöse und nichtseminomatöse KZT in beiden Geschlechtern bilden die Gruppe der Typ-II-KZT. Ihre häufigsten Vertreter sind die testikulären malignen KZT. Typ-II-KZT zeigen große Übereinstimmungen mit embryonalen Stammzellen. Die unklassifizierte intratubuläre Keimzellneoplasie (IGCNU), die Vorläuferläsion der KZT Typ II, entwickelt sich aus persistierenden unreifen fetalen Keimzellen, Gonozyten, die sich einem normalen Differenzierungsprozess entziehen. Dabei wird postuliert, dass Exon-17-aktivierende Mutationen der Rezeptortyrosinkinase c-KIT sehr früh während der Keimzellentwicklung auftreten und dass Gonozyten mit aktiviertem c-KIT-Rezeptor in ihrer Differenzierung gehemmt werden und sich dadurch einer normalen Entwicklung entziehen. Neue diagnostische Marker für neoplastische Keimzellen wie OCT3/4 und AP-2γ werden spezifisch in IGCNU, Seminomen und embryonalen Karzinomen detektiert und können helfen, eine Keimzellneoplasie Typ II von anderen malignen Tumoren abzugrenzen.

Abstract

Germ cell tumors (GCT) comprise a heterogeneous group of benign and malignant tumors. Based on their different biological characteristics and their origin, five types of GCT are classified. Among these, malignant seminomatous and non-seminomatous GCT in males and females are designated as type II GCT. They occur most frequently as malignant testicular GCTs. Many characteristics of type II GCT can be linked to embryonic stem cells. Intratubular germ cell neoplasia, unclassified (IGCNU) is the precursor of type II GCT and derives from undifferentiated germ cells, gonocytes, which persist in the newborn testis and escape the normal differentiation process. It is suggested that Exon-17-activated mutations of the receptor tyrosine kinase, c-KIT, occur early in germ cell development and that gonocytes with an activated c-KIT receptor are restricted in their differentiation, thereby escaping normal development. New diagnostic markers for neoplastic germ cells, including OCT3/4 and AP-2γ, are specifically detected in IGCNU, seminomas and embryonal carcinomas and are helpful in the differentiation of type II GCT from other malignant tumors.

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  1. Afdeling Pathologie, Josephine Nefkens Instituut, Erasmus University Medical Center, Dr. Molewaterplein 50, Postbus 2040, 3000 CA, 3015 GE, Rotterdam, Niederlande

    K. Biermann

  2. Institut für Pathologie, Universitätsklinikum Bonn, Bonn, Deutschland

    K. Biermann, H. Zhou & R. Büttner

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  2. H. Zhou
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Biermann, K., Zhou, H. & Büttner, R. Molekulare Pathologie der testikulären Keimzelltumoren: ein Update. Pathologe 29, 348–353 (2008). https://doi.org/10.1007/s00292-008-1014-2

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