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t(3;12)(q26;q14) in polycythemia vera is associated with upregulation of the HMGA2 gene

Leukemia volume 20, pages 2190–2192 (2006)Cite this article

Polycythemia vera (PV) is a chronic myeloproliferative disorder (MPD) characterized by an excess production of apparently normal erythrocytes and a variable overproduction of leukocytes and platelets in the absence of a defined cause. Recent PV studies have identified in several patients an acquired valine-to-phenylalanine mutation at amino acid 617 (V617F) in the Janus kinase 2 (JAK2) tyrosine kinase gene. This mutation, however, is not present in all PV patients.1, 2 Other studies have reported a number of gene fusions resulting from chromosomal aberrations, but no recurrent chromosomal abnormality has been identified so far.

We report here a PV case showing a novel, balanced t(3;12)(q26;q14) translocation, involving the 3′ UTR of the gene HMGA2 (high mobility group AT-hook 2 isoform a) and the coding region of the TNIK (Traf2- and Nck-interacting kinase). Molecular analyses demonstrated an overexpression of HMGA2, which, however, was not due to the formation of a fusion transcript with TNIK, but, very likely, to a position effect. TNIK expression pattern was not affected by the rearrangement.

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Acknowledgements

This work has been supported by AIRC (Associazione Italiana per la Ricerca sul Cancro), MIUR (Ministero dell’Istruzione, dell’Università e della Ricerca). We thank Dr P Iuzzolino and Dr G Piccolini for their contribution to the study, and Ms MVC Pragnell, BA, for language revision of this paper.

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Authors and Affiliations

  1. Department of Genetics and Microbiology, University of Bari, Bari, Italy

    C T Storlazzi, A Lonoce, M C Guastadisegni, L Impera, P D'Addabbo & M Rocchi

  2. Hematology, University of Bari, Bari, Italy

    F Albano & G Specchia

  3. Servizio di Anatomia Patologica, Ospedale S Martino, Belluno, Italy

    C Locunsolo & S Funes

  4. Reparto di Medicina, Ospedale S. Martino, Belluno, Italy

    L Cimarosto

  5. Department of Clinical Genetics, University Hospital, Lund, Sweden

    I Panagopoulos

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  1. C T Storlazzi
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  2. F Albano
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  3. C Locunsolo
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  12. M Rocchi
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Storlazzi, C., Albano, F., Locunsolo, C. et al. t(3;12)(q26;q14) in polycythemia vera is associated with upregulation of the HMGA2 gene. Leukemia 20, 2190–2192 (2006). https://doi.org/10.1038/sj.leu.2404418

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