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Molecular Cytogenetics

Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies

Leukemia volume 19, pages 245–252 (2005)Cite this article

Abstract

Chromosomal translocations that target HMGA2 at chromosome band 12q14 are seen in a variety of malignancies, notably lipoma, pleomorphic salivary adenoma and uterine leiomyoma. Although some HMGA2 fusion genes have been reported, several lines of evidence suggest that the critical pathogenic event is the expression of truncated HMGA2 isoforms. We report here the involvement of HMGA2 in six patients with myeloid neoplasia, dysplastic features and translocations or an inversion involving chromosome bands 12q13–15 and either 7p12, 8q22, 11q23, 12p11, 14q31 or 20q11. Breaks within or very close to HMGA2 were found in all six cases by molecular cytogenetic analysis, leading to overexpression of this gene as assessed by RT-PCR. Truncated transcripts consisting of HMGA2 exons 1–2 or exons 1–3 spliced to intron-derived sequences were identified in two patients, but were not seen in controls. These findings suggest that abnormalities of HMGA2 play an important and previously unsuspected role in myelodysplasia.

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Authors and Affiliations

  1. Department of Genetics, School of Science, University of Navarra, Pamplona, Spain

    M D Odero, J P Roman, J L Vizmanos & M J Calasanz

  2. Wessex Regional Genetics Laboratory, Salisbury and Human Genetics Division, University of Southampton, Southampton, UK

    F H Grand, S Iqbal, F Ross & N C P Cross

  3. INSERM Unité 524, Institut de Recherche sur le Cancer de Lille and Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France

    J Andrieux & J L Laï

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  1. M D Odero
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Correspondence to N C P Cross.

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Odero, M., Grand, F., Iqbal, S. et al. Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies. Leukemia 19, 245–252 (2005). https://doi.org/10.1038/sj.leu.2403605

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  • DOI: https://doi.org/10.1038/sj.leu.2403605

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