Nervenheilkunde 2009; 28(09): 611-618
DOI: 10.1055/s-0038-1628693
Neuropathologie
Schattauer GmbH

WHO-Klassifikation und molekulare Diagnostik von Tumoren des zentralen Nervensystems

WHO classification and molecular diagnostics of central nervous system tumors
M. J. Riemenschneider
1   Institut für Neuropathologie, Heinrich-Heine-Universität Düsseldorf
,
G. Reifenberger
1   Institut für Neuropathologie, Heinrich-Heine-Universität Düsseldorf
› Author Affiliations
Further Information

Publication History

Eingegangen am: 11 May 2009

angenommen am: 15 May 2009

Publication Date:
24 January 2018 (online)

Zusammenfassung

Diese Übersichtsarbeit gliedert sich in zwei für die klinische Praxis relevante Teilbereiche: Zum einen wird die aktuelle WHO-Klassifikation der Tumoren des zentralen Nervensystems (ZNS) vorgestellt. Fokussiert wird auf die Gliome, die häufigsten primären intrazerebralen Tumoren, sowie die wesentlichen Charakteristika neuer Tumorentitäten und -varianten. Die WHO-Klassifikation beruht auf histologischen und immunhistochemischen Kriterien. Mit den Fortschritten der Molekularbiologie sind eine Vielzahl von genetischen Aberrationen in ZNS-Tumoren identifiziert worden, die zum Teil für eine erweiterte molekularpathologische Diagnostik in Frage kommen. Hierzu zählen die Analyse der Promotormethylierung des MGMT-Gens in Glioblastomen, der Nachweis von Allelverlusten auf den Chromosomenarmen 1p und 19q in oligodendroglialen Tumoren, die Bestimmung von Mutationen des IDH1-Gens in diffusen Gliomen sowie der Nachweis von BRAF-Translokationen/-Duplikationen in pilozytischen Astrozytomen. Auf den Nutzen dieser molekularen Marker wird im zweiten Teil eingegangen.

Summary

This review focuses on two main aspects we consider as relevant for clinical practice: First, we introduce the new WHO classification of tumors of the central nervous system in its revised 2007 edition. We particularly delineate histopathological features of gliomas, which are the most frequent primary intracerebral tumors, and describe the characteristics of the newly introduced tumor entities and variants, all of which are still mainly defined by histological criteria. With recent advances in molecular biology, a plethora of genetic aberrations has been identified in the different types of CNS tumors. To date, few of these factors qualify for an application in the molecular diagnostics of brain tumors, including the testing for promoter methylation of the MGMT gene in glioblastomas, detection of chromosomal deletions on 1p and 19q in oligodendroglial tumors, mutation analysis of the IDH1 gene in diffuse gliomas and analysis for duplication/translocation of BRAF in pilocytic astrocytoma. The second part will focus on delineating the adjunct value of the diagnostic assessment of these novel molecular markers.

 
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