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Metaphase Cytogenetics in Chronic Lymphocytic Leukemia

  • Cytogenetics (CL Martin and E Williams, Section Editors)
  • Published:
Current Genetic Medicine Reports Aims and scope Submit manuscript

Abstract

Purpose of Review

Chronic lymphocytic leukemia (CLL) is a highly heterogeneous disease and biomarkers are integral to predicting outcomes. In the past, cytogenetics in CLL typically utilized fluorescence in situ hybridization to detect abnormalities due to the low mitotic index of CLL hampering metaphase karyotyping. Recently, stimulation of CLL cells with CpG oligodeoxynucleotides has largely overcome this challenge.

Recent Findings

CpG oligodeoxynucleotides enhance the detection of karyotypic abnormalities in CLL by stimulating leukemic cells that normally do not proliferate in culture. Karyotyping has identified complex karyotype as a prognostic marker associated with poor outcome in CLL. Karyotyping has also uncovered novel chromosomal abnormalities including trisomies, dicentric chromosomes, and jumping translocations.

Summary

CpG oligodeoxynucleotide stimulation significantly improves the ability to detect chromosomal abnormalities via karyotyping in CLL. Karyotyping has proven to be an important diagnostic tool in CLL and contributes to the discovery of novel recurrent chromosomal abnormalities.

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Authors and Affiliations

  1. Ohio State University Comprehensive Cancer Center, The Ohio State University, Columbus, OH, USA

    Cecelia Miller, Natarajan Muthusamy, Athena Puski & John C. Byrd

  2. Department of Pathology, The Ohio State University, 129 Hamilton Hall, 1645 Neil Ave, Columbus, OH, 43210, USA

    Heather Breidenbach & Nyla A. Heerema

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  1. Cecelia Miller
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Correspondence to Nyla A. Heerema.

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Cecelia Miller, Natarajan Muthusamy, Heather Breidenbach, Athena Puski, John C. Byrd, and Nyla Heerema declare that they have no conflict of interest.

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Miller, C., Muthusamy, N., Breidenbach, H. et al. Metaphase Cytogenetics in Chronic Lymphocytic Leukemia. Curr Genet Med Rep 4, 65–73 (2016). https://doi.org/10.1007/s40142-016-0090-5

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