4. Diagnosis of Leukemias: New Diagnostic Modalities and Implications for Classification

  1. Stefan Faderl MD Associate Professor and
  2. Hagop Kantarjian MD Chairman Professor
  1. Maher Albitar

Published Online: 4 JAN 2011

DOI: 10.1002/9781444327359.ch4

Leukemias: Principles and Practice of Therapy

Leukemias: Principles and Practice of Therapy

How to Cite

Albitar, M. (2010) Diagnosis of Leukemias: New Diagnostic Modalities and Implications for Classification, in Leukemias: Principles and Practice of Therapy (eds S. Faderl and H. Kantarjian), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444327359.ch4

Editor Information

  1. Department of Leukemia, University of Texas, MD Anderson Cancer Center, Houston, TX, USA

Author Information

  1. Quest Diagnostics Nichols Institute, San Juan Capistrano, California, USA

Publication History

  1. Published Online: 4 JAN 2011
  2. Published Print: 26 NOV 2010

ISBN Information

Print ISBN: 9781405182355

Online ISBN: 9781444327359



  • leukemia;
  • chromosomal translocations;
  • mutations;
  • prognosis;
  • diagnosis;
  • prediction of response;
  • cytogenetics;
  • fluorescence in situ hybridization (FISH);
  • molecular abnormalities


Diagnosis and classification of leukemias is becoming increasingly dependent on the underlying molecular abnormalities. The development of new therapeutic agents that target specific molecular abnormalities necessitates methods for diagnosis and classification of these specific aberrations—for all types of cancers, not only leukemia. Progress in various molecular techniques is also providing discovery tools for better defining new diagnostic entities that previously were lumped under other diseases. Karyotyping and fluorescence in situ hybridization (FISH) studies, along with flow cytometry and morphologic examination, remain the cornerstone of any leukemia diagnosis and classification scheme. However, for more precise and detailed subclassification, numerous important diagnostic and prognostic molecular abnormalities need to be evaluated using relatively sophisticated molecular testing. Various high-throughput nucleic acid-, protein array-, and mass spectrometry-based platforms are being used in research settings and have been extremely helpful for drug discovery and for finding novel molecular abnormalities. However, the use of such high-throughput approaches and evaluation of large numbers of variables leads to inherent problems in terms of quality assurance and reproducibility. They are not ready for day-to-day clinical laboratory testing and are not being used in the diagnosis or classification of leukemias.