17. Immunoglobulin and T-Cell Receptor Gene Rearrangement Analysis for Diagnosis of Hematologic Malignancies

  1. Kandice Kottke-Marchant MD, PhD3,4,5 and
  2. Bruce H. Davis MD6
  1. Jacques J. M. van Dongen MD, PhD1,
  2. Anton W. Langerak PhD1 and
  3. Tomasz Szczepański MD, PhD2

Published Online: 8 AUG 2012

DOI: 10.1002/9781444398595.ch17

Laboratory Hematology Practice

Laboratory Hematology Practice

How to Cite

van Dongen, J. J. M., Langerak, A. W. and Szczepański, T. (2012) Immunoglobulin and T-Cell Receptor Gene Rearrangement Analysis for Diagnosis of Hematologic Malignancies, in Laboratory Hematology Practice (eds K. Kottke-Marchant and B. H. Davis), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781444398595.ch17

Editor Information

  1. 3

    Pathology & Laboratory Medicine Institute, Cleveland, OH, USA

  2. 4

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

  3. 5

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

  4. 6

    Trillium Diagnostics, LLC, Bangor, ME, USA

Author Information

  1. 1

    Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

  2. 2

    Medical University of Silesia, Zabrze, Poland

Publication History

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

ISBN Information

Print ISBN: 9781405162180

Online ISBN: 9781444398595



  • leukemia;
  • lymphoma;
  • immunoglobulin;
  • T-cell receptor;
  • gene rearrangement;
  • V(D)J recombination;
  • clonality testing;
  • prognosis;
  • translocation;
  • minimal residual disease


Lymphoid malignancies (acute and chronic lymphoid leukemias and non-Hodgkin lymphomas) can be considered as the malignant counterparts of B and T lymphocytes or their precursors. During the early phases of differentiation, B and T lymphocytes undergo gene rearrangement processes in the genes encoding the immunoglobulin and T-cell receptor (TCR) molecules to create a diverse repertoire of antigen receptors. Consequently, lymphoid malignancies also contain such immunoglobulin/TCR gene rearrangements.

In the first part of this chapter basic aspects of the V(D)J recombination process in the immunoglobulin/TCR genes are reviewed. Next several applications of immunoglobulin/TCR gene analysis in the diagnostic work-up of lymphoid malignancies are discussed. These include clonality testing (confirmation of the clonal character of lymphoid malignancies), determination of somatic hypermutation in IGH genes, the detection of specific translocations that involve the immunoglobulin/TCR loci for prognostic subclassification, and monitoring of minimal residual disease employing immunoglobulin/TCR rearrangements as patient-specific PCR-targets for assessment of treatment effectiveness.