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Cytogenetic Findings in Classical MPNs

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Myeloproliferative Neoplasms

Part of the book series: Contemporary Hematology ((CH))

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Abstract

The myeloproliferative neoplasms (MPNs), as defined by the latest World Health Organisation’s (WHO) revision, include a range of clonal haematopoietic disorders that are characterised by an increase in the number of one or more mature blood cell progeny. Classical cytogenetic analysis has played a crucial role in the identification of important oncogenes in many haematological malignancies, the paradigm being the identification of the t(9;22) in chronic myeloid leukaemia. This discovery led not only to the elucidation of the pathogenetic role of the bcr-abl fusion gene, but also to the development of effective targeted therapy. Other oncogenic events, involving the activation of different tyrosine kinases, were subsequently identified by the study of rare translocations. In contrast, the pathogenesis of the Philadelphia-negative MPNs namely, essential thrombocythemia (ET), polycythemia vera (PV), primary myelofibrosis (PMF), as well as chronic neutrophilic leukeamia (CNL), has not been greatly advanced by karyotypic analysis. Nevertheless, cytogenetic analysis still has a role in the routine investigation of such patients, as an abnormal profile provides evidence of clonality: a factor recognised by the WHO diagnostic criteria (Table 3.1). In addition, cytogenetic analysis may also provide valuable prognostic information in PMF, assist in the selection of specific therapy and ensure the exclusion of related disorders that may be associated with marrow fibrosis (see review [1]). The aim of this chapter is to review the current knowledge of chromosomal abnormalities in the MPN and to highlight possible pathogenetic consequences of such changes.

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Authors and Affiliations

  1. Department of Haematology, Royal Hallamshire Hospital, Sheffield, UK

    John T. Reilly

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  1. John T. Reilly
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Correspondence to John T. Reilly .

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Editors and Affiliations

  1. M.D. Anderson Cancer Center, Dept. Leukemia, University of Texas, Holcombe Blvd. 1515, Houston, 77030, Texas, USA

    Srdan Verstovsek

  2. Dept. Internal Medicine, Div. Hematology, Mayo Clinic, First Street SW. 200, Rochester, 55905, Minnesota, USA

    Ayalew Tefferi

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Reilly, J.T. (2011). Cytogenetic Findings in Classical MPNs. In: Verstovsek, S., Tefferi, A. (eds) Myeloproliferative Neoplasms. Contemporary Hematology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-266-7_3

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  • DOI: https://doi.org/10.1007/978-1-60761-266-7_3

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