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5 - Gene expression profiling for the diagnosis of acute leukemias

Published online by Cambridge University Press:  05 September 2009

By
Torsten Haferlach ,
Alexander Kohlmann ,
Susanne Schnittger ,
Claudia Schoch  and
Wolfgang Kern
Edited by
Wolf-Karsten Hofmann
Torsten Haferlach
Affiliation:
MLL – Munich Leukemia Laboratory, Germany
Alexander Kohlmann
Affiliation:
Roche Molecular Systems, Pleasanton, CA, USA
Susanne Schnittger
Affiliation:
MLL – Munich Leukemia Laboratory, Germany
Claudia Schoch
Affiliation:
MLL – Munich Leukemia Laboratory, Germany
Wolfgang Kern
Affiliation:
MLL – Munich Leukemia Laboratory, Germany
Wolf-Karsten Hofmann
Affiliation:
Charite-University Hospital Benjamin Franklin, Berlin
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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].

Type
Chapter
Information
Gene Expression Profiling by Microarrays
Clinical Implications
 , pp. 106 - 131
Publisher: Cambridge University Press
Print publication year: 2006

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References

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