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Molecular characterization of deletions of the long arm of chromosome 5 (del(5q)) in 94 MDS/AML patients

Leukemia volume 26, pages 1695–1697 (2012)Cite this article

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Deletion of the long arm of chromosome 5 (del(5q)) is a common finding in myelodysplastic syndrome (MDS) and in acute myeloid leukemia (AML). First described in 1974 by Van den Berghe et al.,1 the 5q- syndrome, more frequently found in old-aged females, is characterized by erythroid hypoplasia, macrocytic anemia, normal to elevated platelets count, preponderance of monolobulated megakaryocytes, isolated 5q deletion and low rate of progression to AML. Now, the 5q- syndrome is recognized as a clinical and biological entity of MDS according to the revised World Health Organization (WHO) classification in 2008.2 The WHO classification recognized that the 5q- syndrome is narrowly defined as de novo MDS with an isolated cytogenetic abnormality involving deletions between bands q21 and q32 of chromosome 5. The criteria for inclusion have evolved from the description by Van den Berghe et al.1 to normal to increased megakaryocytes with hypolobated nuclei, <5% blasts, no Auer rods in bone marrow and normal or increased platelets and <5% blasts in blood. Furthermore, additional cytogenetic abnormalities or 5% or more blasts in the blood or marrow is exclusionary for the diagnosis.2 Therefore, most of the patients (95%) with an isolated 5q deletion do not fit the WHO criteria to be included in this subset of MDS, which appears to be rare.3, 4

For over 15 years, many studies have focused on defining the common deleted region of chromosome 5.5, 6, 7, 8, 9, 10 Initially, the Knudson two-hit model was thought to occur in these large deletions. Now, the haploinsufficiency of one or more genes seems the model to explain 5q deletion consequences.11

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Acknowledgements

This work has been funded in part by the ‘Ligue contre le Cancer-Comité du Finistère’.

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Authors and Affiliations

  1. Laboratoire d’Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France

    N Douet-Guilbert, E De Braekeleer, A Basinko, A Herry, N Gueganic, C Bovo, K Trillet, A Dos Santos, F Morel & M De Braekeleer

  2. Service de Cytogénétique, Cytologie et Biologie de la Reproduction, Hôpital Morvan, CHRU Brest, Brest, France

    N Douet-Guilbert, A Basinko, M J Le Bris, F Morel & M De Braekeleer

  3. Institut National de la Santé et de la Recherche Médicale (INSERM) U613, Brest, France

    N Douet-Guilbert, E De Braekeleer, A Basinko, N Gueganic, C Bovo, F Morel & M De Braekeleer

  4. Service d’Hématologie Clinique, Institut de Cancérologie et d’Hématologie, Hôpital Morvan, CHRU Brest, Brest, France

    J R Eveillard & C Berthou

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  1. N Douet-Guilbert
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Correspondence to M De Braekeleer.

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Douet-Guilbert, N., De Braekeleer, E., Basinko, A. et al. Molecular characterization of deletions of the long arm of chromosome 5 (del(5q)) in 94 MDS/AML patients. Leukemia 26, 1695–1697 (2012). https://doi.org/10.1038/leu.2012.9

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