16. Molecular Cytogenetic (FISH) Analysis of Hematolymphoid Disorders

  1. Kandice Kottke-Marchant MD, PhD4,5,6 and
  2. Bruce H. Davis MD7
  1. Mark A. Micale PhD, FACMG1,2 and
  2. Anwar N. Mohamed MD, FACMG3

Published Online: 8 AUG 2012

DOI: 10.1002/9781444398595.ch16

Laboratory Hematology Practice

Laboratory Hematology Practice

How to Cite

Micale, M. A. and Mohamed, A. N. (2012) Molecular Cytogenetic (FISH) Analysis of Hematolymphoid Disorders, in Laboratory Hematology Practice (eds K. Kottke-Marchant and B. H. Davis), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444398595.ch16

Editor Information

  1. 4

    Pathology & Laboratory Medicine Institute, Cleveland, OH, USA

  2. 5

    Department of Pathology, Cleveland Clinic Lerner College of Medicine, Cleveland, OH, USA

  3. 6

    Hemostasis and Thrombosis, Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, USA

  4. 7

    Trillium Diagnostics, LLC, Bangor, ME, USA

Author Information

  1. 1

    Oakland University William Beaumont School of Medicine, MI, USA

  2. 2

    Beaumont Health System, Beaumont Laboratory, Royal Oak, MI, USA

  3. 3

    Department of Pathology/Cytogenetic Laboratory, Wayne State University School of Medicine/Detroit Medical Center, Detroit, MI, USA

Publication History

  1. Published Online: 8 AUG 2012
  2. Published Print: 10 APR 2012

ISBN Information

Print ISBN: 9781405162180

Online ISBN: 9781444398595



  • molecular cytogenetics;
  • myelodysplastic syndrome;
  • FISH;
  • plasma cell myeloma fluorescence in situ hybridization;
  • acute lymphoblastic leukemia;
  • chronic myelogenous leukemia;
  • chronic lymphocytic leukemia;
  • myeloproliferative neoplasm;
  • acute myeloid leukemia


Advances in genetic technologies have led to a rapid growth in cancer diagnostic testing, specifically tests to identify cytogenetic and molecular changes that can provide valuable information regarding patient prognosis and guide the appropriate choice of therapy. The discovery of recurring chromosome changes in hematolymphoid malignancies has provided the basis for the molecular characterization of genes responsible for leukemogenesis and for the development of specific treatment strategies. While conventional cytogenetic analysis permits a genome-wide assessment of chromosome abnormalities in leukemias and lymphomas, it is sometimes hampered in these conditions by factors associated with the study of dividing cells that include low mitotic index and poor chromosome morphology. Molecular cytogenetics, or fluorescence in situ hybridization (FISH), permits the visualization of specific nucleic acid sequences in nondividing cells (interphase nuclei) as well as in metaphase chromosomes in a highly sensitive and rapid manner and can detect genetic changes when conventional cytogenetics is either not possible or provides uninformative results. The commercial availability of a comprehensive array of FISH probes to detect chromosome abnormalities has established this technology as an indispensable diagnostic test and has resulted in an increased demand for FISH testing as clinicians have become increasingly aware of its potential clinical utility.