EVI1 overexpression in t(3;17) positive myeloid malignancies results from juxtaposition of EVI1 to the MSI2 locus at 17q22

Autor: An De Weer, Frank Speleman, Barbara Cauwelier, Nadine Van Roy, Nurten Yigit, Bruno Verhasselt, Barbara De Moerloose, Yves Benoit, Lucien Noens, Dominik Selleslag, Eric Lippert, Stephanie Struski, Christian Bastard, Anne De Paepe, Peter Vandenberghe, Anne Hagemeijer, Nicole Dastugue, Bruce Poppe
Jazyk: angličtina
Rok vydání: 2008
Předmět:
Zdroj: Haematologica, Vol 93, Iss 12 (2008)
Druh dokumentu: article
ISSN: 0390-6078
1592-8721
DOI: 10.3324/haematol.13192
Popis: Chromosomal translocations involving the EVI1 locus are a recurrent finding in myeloid leukemia and are associated with poor prognosis. In this study, we performed a detailed molecular characterization of the recurrent translocation t(3;17)(q26;q22) in 13 hematologic malignancies. The EVI1 gene locus was rearranged in all 13 patients and was associated with EVI1 overexpression. In 9 out of 13 patients, the 17q breakpoints clustered in a 250 kb region on band 17q22 encompassing the MSI2 (musashi homologue 2) gene. Expression analyses failed to demonstrate ectopic MSI2 expression or the presence of an MSI2/EVI1 fusion gene. In conclusion, we show for the first time that the t(3;17) is indeed a recurrent chromosomal aberration in myeloid malignancies. In keeping with findings in other recurrent 3q26 rearrangements, overexpression of the EVI1 gene appears to be the major contributor to leukemogenesis in patients with a t(3;17).
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