[Diagnostics of acute leukemias: interaction of phenotypic and genetic methods].

Abstract

Due to the heterogeneity of these disorders, the diagnosis of acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL) requires a broad spectrum of laboratory techniques: cytomorphology, immunophenotyping, chromosome banding analysis, fluorescence in situ hybridization, and molecular genetics. The cytomorphological leukemia subtypes can be indicative for distinct genetic alterations and contribute to the guidance of the further diagnostic process. Immunophenotyping allows to define the hematological lineage and to characterize the leukemia-associated immunophenotype as basis for follow up investigation. Cytogenetic alterations and molecular mutations are essential for the correct classification of cases and for prognostication. Molecular markers are helpful to define the minimal residual disease load after the achievement of hematological complete remission. In cases of hypocellular AML or in case of bone marrow necrosis, histopathology in combination with immunohistochemistry is of importance. Hierarchies between the different techniques catalyze the workflow in the laboratory and allow a rapid diagnosis and classification of the leukemia cases.