EVI1 activation in blast crisis CML due to juxtaposition to the rare 17q22 partner region as part of a 4-way variant translocation t(9;22)

doi:10.1186/1471-2407-8-193

BMC Cancer

Volume 8

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De Weer A
Poppe B
Cauwelier B
Carlier A
Dierick J
Verhasselt B
Philippé J
Van Roy N
Speleman F

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De Weer A
Poppe B
Cauwelier B
Carlier A
Dierick J
Verhasselt B
Philippé J
Van Roy N
Speleman F
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Research article

EVI1 activation in blast crisis CML due to juxtaposition to the rare 17q22 partner region as part of a 4-way variant translocation t(9;22)

An De Weer¹ , Bruce Poppe¹ , Barbara Cauwelier¹^,2 , Andre Carlier³ , Jan Dierick⁴ , Bruno Verhasselt⁵ , Jan Philippé⁵^,6 , Nadine Van Roy¹ and Frank Speleman¹

¹Centre for Medical Genetics Gent (CMGG), Ghent University Hospital, Ghent, Belgium

²Department of Hematology, AZ Sint-Jan AV, Brugge, Belgium

³Department of Hematology, AZ Maria-Middelares Hospital, Ghent, Belgium

⁴Department of Clinical Biology, AZ Maria-Middelares, Ghent, Belgium

⁵Department of Clinical Chemistry, Microbiology and Immunology, Ghent University Hospital, Ghent, Belgium

⁶Centre for Molecular Diagnostics, Ghent University Hospital, Ghent, Belgium

author email corresponding author email

BMC Cancer 2008, 8:193doi:10.1186/1471-2407-8-193


Published:	9 July 2008

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.

Methods

Dual-colour Fluorescence In Situ Hybridisation was performed to unravel the different cytogenetic aberrations. Expression levels of EVI1 and BCR/ABL1 were investigated using real-time quantitative RT-PCR.

Results

In this paper we identified a patient with a complex 4-way t(3;9;17;22) which, in addition to BCR/ABL1 gene fusion, also resulted in EVI1 rearrangement and overexpression.

Conclusion

This report illustrates how a variant t(9;22) translocation can specifically target a second oncogene most likely contributing to the more aggressive phenotype of the disease. Molecular analysis of such variants is thus warranted to understand the phenotypic consequences and to open the way for combined molecular therapies in order to tackle the secondary oncogenic effect which is unresponsive to imatinib treatment.