Zusammenfassung
Sowohl die akuten Leukämien als auch die chronischen Leukämien sind sehr heterogene Krankheiten, welche sich auf der Grundlage ihrer morphologischen, immunologischen und genetischen Eigenschaften in eine Vielzahl von Subtypen gliedern lassen. Nur eine Kombination verschiedener Methoden der hämatologischen Diagnostik ist in der Lage, diese Subtypen korrekt zu erfassen und dem jeweiligen prognostischen Profil zuzuordnen. Dabei wirken die Zytomorphologie, die Zyto- und Molekulargenetik sowie die Immunphänotypisierung mit der Multiparameter-Durchflusszytometrie zusammen. Moderne Klassifikationssysteme wie die WHO-Klassifikation aus dem Jahre 2001 beziehen all diese Methoden ein, stützen sich aber auch auf bereits länger etablierte, vorwiegend morphologisch begründete Systeme wie die FAB-Klassifikation der akuten myeloischen Leukämie (AML).
Angesichts der kontinuierlichen Erweiterung des Spektrums bekannter genetischer Marker und aufgrund tieferer Einsichten in die Leukämogenese werden auch in Zukunft immer wieder Revisionen der gängigen Klassifikationssysteme notwendig sein. Dies kann am Beispiel der AML verdeutlicht werden, bei welcher die Identifizierung der Nucleophosmin-(NPM1-)Mutation bei der Mehrheit der Patienten mit normalem Karyotyp bald eine eigenständige Kategorie für diese Subgruppe erfordern wird. Bei der chronischen lymphatischen Leukämie (CLL) gelingt auf molekularer Basis eine Risikostratifizierung auf der Basis des Mutationsstatus der Gene, welche für die Schwerketten der Immunglobuline kodieren. Somit sind alle Klassifikationssysteme für Leukämien einem ständigen Wandel unterworfen.
Diese Übersicht stellt dar, welche Parameter derzeit zur Klassifikation der akuten und chronischen Leukämien relevant sind, welcher diagnostischen Methoden es bedarf, um die notwendigen Informationen bei den jeweiligen Entitäten zu liefern, und welche aktuellen Erkenntnisse richtungweisend für künftige Klassifikationssysteme sind.
Abstract
Acute and chronic leukemias represent heterogeneous disorders which are divided in a variety of subtypes based on morphological, immunologic, and genetic characteristics. A combination of diverse diagnostic methods is necessary to perform a correct classification of these subtypes and to correlate them to the respective prognostic profiles: cytomorphology, cyto- and molecular genetics, and immunophenotyping by multiparameter flow cytometry. Modern classification systems such as the WHO classification (2001) integrate all these methods, although they are based on previous classification systems using preferentially cytomorphological criteria such as the FAB classification of acute myeloid leukemia (AML).
However, in consideration of the continuous expansion of the spectrum of known genetic markers and due to deeper insights into the mechanisms of leukemogenesis, these classification systems need to be revised already in the near future. This can be illustrated by the recent detection of the nucleophosmin (NPM1) mutations in the majority of AML patients with a normal karyotype which might soon be followed by an own category for this subgroup within a revised WHO classification. In chronic lymphatic leukemia (CLL) the definition of the molecular mutation status of the genes coding for the immunoglobulin heavy chain by molecular methods was able to improve risk stratification. Thus, all systems for leukemia classification are in continuous change.
This review presents a survey of the parameters which are relevant for the classification of the acute and chronic leukemias, of the diagnostic methods which are essential to guarantee the relevant information, and, finally, of recent results of leukemia research which might influence future classification systems.
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Bacher, U., Haferlach, C., Kern, W. et al. Klassifikation von Leukämien. Onkopipeline 1, 41–48 (2008). https://doi.org/10.1007/s15035-008-0121-0
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DOI: https://doi.org/10.1007/s15035-008-0121-0