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Plasma Cell Neoplasms pp 79–97Cite as

Cytogenetics of Plasma Cell Neoplasms

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Abstract

Plasma cell (PC) malignancies are characterized by the clonal evolution of complex cytogenetic and molecular genetic aberrations. Multiple myeloma (MM) is considered to be comprised of two basic cytogenetic subtypes: a hyperdiploid subtype consisting of a distinctive set of odd numbered trisomies, and a non-hyperdiploid subtype (hypodiploid) without trisomies and with one of several types of immunoglobulin heavy chain (IGH) rearrangements. In general the hypodiploid subgroup with t(4;14)(p16;q32) or t(14;16)(q32;q23) is considered higher-risk, while the hyperdiploid patients with t(11;14)(q13;q32) are considered a better prognostic group. During the genetic progression of PC disorders secondary chromosomal aberrations begin to accumulate, resulting in complex structural aberrations involving the c-MYC locus, deletions of 1p, 17p, and amplification of 1q21. To help facilitate the identification of high-risk patients the International Myeloma Working Group recommends the use of interphase FISH probes for the t(4;14) translocation and the copy number aberrations of 17p− and +1q21. In this chapter the relevant findings from both interphase and conventional metaphase studies will provide a framework for the understanding of the origin of cytogenetically more evolved subclones in PC disorders.

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Acknowledgments

The interphase FISH images in Fig. 4.1 were kindly provided by Dr. Erming Tian, Myeloma Institute, University of Arkansas for Medical Sciences.

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Authors and Affiliations

  1. Department of Pathology and Myeloma Institute, University of Arkansas for Medical Sciences, Little Rock, AR, 72205, USA

    Jeffrey R. Sawyer

  2. Cytogenetics Laboratory, Freeway Medical Tower, Suite 200, 5800 West 10th Street, Little Rock, AR, 72204, USA

    Jeffrey R. Sawyer

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Correspondence to Jeffrey R. Sawyer .

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  1. for Medical Sciences, University of Arkansas for Medical Sciences, LITTLE ROCK, Arkansas, USA

    Robert B. Lorsbach

  2. Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA

    Marwan Yared

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Sawyer, J.R. (2016). Cytogenetics of Plasma Cell Neoplasms. In: Lorsbach, R., Yared, M. (eds) Plasma Cell Neoplasms. Springer, Cham. https://doi.org/10.1007/978-3-319-42370-8_4

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  • DOI: https://doi.org/10.1007/978-3-319-42370-8_4

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