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Myelodysplastic Syndromes pp 85–95Cite as

The Biology of Myelodysplastic Syndrome Associated with Isolated del(5q)

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Part of the book series: Hematologic Malignancies ((HEMATOLOGIC))

Abstract

The 5q− syndrome was first described by Van den Berghe et al. in 1974 in three patients with refractory anemia characterized by erythroid hypoplasia, hypolobulated megakaryocytes, normal to elevated platelet counts, and an interstitial deletion on chromosome arm 5q (del[5q]). Isolated del(5q) was the second chromosomal abnormality recognized to be linked to a specific type of malignancy, the first being the Philadelphia chromosome t(9;22) described in 1960. The 5q− syndrome was acknowledged as a separate disease entity in the WHO classification of 2001 (Jaffe et al. 2001) but was renamed myelodysplastic syndrome (MDS) associated with isolated del(5q) in the 2008 version (Swerdlow et al. 2008). Del(5q) also occurs in the patients with more advanced MDS due to blast increase or additional karyotypic changes, as well as in acute myeloid leukemia (AML) and therapy-related MDS. In high-risk patients the presence of del(5q) is associated with adverse prognosis, in sharp contrast to the favorable outcome seen in 5q− syndrome. Intensive efforts have been made to investigate the molecular pathogenesis behind del(5q) MDS, and currently several genes on 5q are thought to be involved in the manifestations of the disease. Recent breakthroughs provide important insights into key aspects of the disease biology and pave the way for treatments effectively targeting the malignant del(5q) clone. This chapter focuses mainly on the classical low-risk 5q− syndrome but also covers more advanced types of MDS with del(5q).

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Authors and Affiliations

  1. Huddinge Hematology Center M54, Karolinska University Hospital, Stockholm, SE-141 86, Sweden

    Martin Jadersten

  2. Department of Genome Sciences, British Columbia Cancer Research Centre, 675 West 10th Ave., Vancouver, BC, V5Z 1L3, Canada

    Aly Karsan MD

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  1. Martin Jadersten
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Correspondence to Martin Jadersten or Aly Karsan MD .

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Jadersten, M., Karsan, A. (2013). The Biology of Myelodysplastic Syndrome Associated with Isolated del(5q). In: Myelodysplastic Syndromes. Hematologic Malignancies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-36229-3_5

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