Embryonale Tumoren des Zentralnervensystems

Die Erkenntnisse zu Biologie und Verhalten der hochmalignen embryonalen Tumoren des Zentralnervensystems nehmen stetig zu. Das schlägt sich auch in ihrer sich über die Jahre wandelnden Terminologie und Klassifizierung nieder. Dieser Artikel stellt wichtige Änderungen des neuen Klassifikationsschemas der Weltgesundheitsorganisation 2016 vor, die für die Diagnostik und Tumorforschung in Zukunft den neuen Standard bilden werden.

Abstract

Embryonal tumors of the central nervous system (CNS) are highly malignant undifferentiated or poorly differentiated tumors of neuroepithelial origin and have been defined as a category in the World Health Organization (WHO) classification since the first edition of the “Blue Book” in 1979. This category has evolved over time to reflect our ever-improving understanding of tumor biology and behavior. With the most recent update in 2016, many previous histologic diagnoses incorporate molecular parameters for the first time (genetically defined entities). While medulloblastoma and atypical teratoid/rhabdoid tumor are familiar carryovers from the 2007 CNS WHO classification, there are major changes to the embryonal tumor category: for example, elimination of the term CNS primitive neuroectodermal tumor and addition of a new genetically defined entity, embryonal tumor with multilayered rosettes, C19MC-altered. The purpose of this article is to discuss both the radiologic-pathologic features of CNS embryonal tumors and the new molecularly defined types/subtypes that will become the standard classification/terminology for future diagnoses and tumor research.

Kernaussagen

• Embryonale Tumoren des ZNS wurden in der WHO-Klassifikation seit der 1. Auflage (1979) als Kategorie definiert. Seit der 4. Auflage (2007) wurden die 3 Typen Medulloblastom, AT/RT und PNET unterschieden.

• In einer aktuellen Überarbeitung der 4. Auflage (2016) wurden genetisch definierte Subtypen des Medulloblastoms aufgenommen und der Terminus „PNET des ZNS“ durch „embryonaler Tumor des ZNS, NOS“, ersetzt. Der Begriff „Ependymoblastom“ wurde durch die genetisch definierte Entität „ETMR“ abgelöst.

• Das erstmals im Jahr 1924 beschriebene Medulloblastom stellt den prototypischen embryonalen Tumor des ZNS dar und ist für annähernd ⅔ aller Fälle verantwortlich. Klassischerweise werden diese Tumoren als zerebelläre Raumforderung in Mittellinienorientierung bei Kindern beschrieben. Allerdings ist rund ¼ dieser Tumoren seitlich lokalisiert und wiederum ¼ manifestiert sich im Erwachsenenalter.

• Die relativ neuen Entitäten AT/RT und ETMR wurden im Jahr 1996 bzw. 2010 offiziell eingeführt. Diese Tumoren kommen weniger häufig vor, verhalten sich aggressiver und treten eher bei sehr jungen Kindern (im Alter von unter 4 Jahren) auf. Diese Tumoren sind nun genetisch definiert, d. h. durch einen Verlust der INI1-Expression bzw. eine C19MC-Amplifikation.

• Die histologischen und radiologischen Erscheinungsbilder von embryonalen Tumoren weisen erhebliche Überschneidungen auf. Ihre Bildgebungsmerkmale sind Ausdruck ihrer Zellularität. Diese Kategorie sollte daher bei allen ZNS-Tumoren in Betracht gezogen werden, die bei jungen Patienten auftreten und eine starke Densität in CT-Aufnahmen und eine niedrige Signalintensität auf T2w Bildern bzw. ADC-Karten aufweisen.

Schlüsselwörter

embryonale ZNS-Tumoren - WHO-Klassifikation 2016 - molekulare Marker - bildgebende pathologische Befunde

Keywords

embryonal tumors of the CNS - WHO classification 2016 - molecular parameters - radiologic-pathologic features

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