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EVI1activation in blast crisis CML due to juxtaposition to the rare 17q22 partner region as part of a 4-way variant translocation t(9;22)
Authors:An De Weer  Bruce Poppe  Barbara Cauwelier  Andre Carlier  Jan Dierick  Bruno Verhasselt  Jan Philippé  Nadine Van Roy  Frank Speleman
Affiliation:(1) Centre for Medical Genetics Gent (CMGG), Ghent University Hospital, Ghent, Belgium;(2) Department of Hematology, AZ Sint-Jan AV, Brugge, Belgium;(3) Department of Hematology, AZ Maria-Middelares Hospital, Ghent, Belgium;(4) Department of Clinical Biology, AZ Maria-Middelares, Ghent, Belgium;(5) Department of Clinical Chemistry, Microbiology and Immunology, Ghent University Hospital, Ghent, Belgium;(6) Centre for Molecular Diagnostics, Ghent University Hospital, Ghent, Belgium
Abstract:

Background  

Variant translocations t(9;22) occur in 5 to 10% of newly diagnosed CMLs and additional genetic changes are present in 60–80% of patients in blast crisis (BC). Here, we report on a CML patient in blast crisis presenting with a four-way variant t(9;22) rearrangement involving the EVI1 locus.
Keywords:
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