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5 - Gene expression profiling for the diagnosis of acute leukemias
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- By Torsten Haferlach, MLL – Munich Leukemia Laboratory, Germany, Alexander Kohlmann, Roche Molecular Systems, Pleasanton, CA, USA, Susanne Schnittger, MLL – Munich Leukemia Laboratory, Germany, Claudia Schoch, MLL – Munich Leukemia Laboratory, Germany, Wolfgang Kern, MLL – Munich Leukemia Laboratory, Germany
- Edited by Wolf-Karsten Hofmann
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- Book:
- Gene Expression Profiling by Microarrays
- Published online:
- 05 September 2009
- Print publication:
- 22 June 2006, pp 106-131
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- Chapter
- Export citation
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Summary
Introduction
Malignant diseases are diagnosed and classified based on cytologic and histologic findings. In particular, acute leukemias are identified based on the cytomorphologic examination of peripheral blood smears and bone marrow aspirates supplemented by cytochemical parameters such as myeloperoxidase (MPO) and non-specific esterase (NSE). Additional diagnostic methods include multiparameter immunophenotyping, which enables a lineage-assignment and a subclassification according to the maturational stage, as well as cytogenetics, supplemented by fluorescence in situ hybridization (FISH), and polymerase chain reaction (PCR). These latter methods have provided deep insights into the biology of different acute leukemia entities. Disease-specific chromosomal aberrations and molecular alterations have been identified for a variety of leukemia subtypes. As a consequence, modern diagnostics in acute leukemias include these methods in combination to allow an optimum characterization of the respective disease. An algorithm for a variety of diagnostic questions using these methods in varying combinations is helpful in order to gather all relevant information in an effective way [1]. Progress in acute leukemia research not only includes the identification and characterization of biologic subgroups. Application of different methods now also allows the selection of disease-specific therapeutic approaches, e.g., the use of all-trans retinoic acid in acute promyelocytic leukemia [2] or the early application of allogeneic transplantation strategies in AML with complex aberrant karyotypes. The significant efficacy of imatinib in BCR-ABL-positive ALL and CML patients, and the use of specific antibodies against CD 20 or CD52, demonstrates the impressive advances in developing tailored disease-specific therapeutic approaches, based on a molecular rationale [3].