A BCR-JAK2 fusion gene as the result of a t(9;22)(p24;q11.2) translocation in a patient with a clinically typical chronic myeloid leukemia.

Autor: Griesinger F; Department of Hematology and Oncology, University of Göttingen, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany. fgriesi@med.uni-goettingen.de, Hennig H, Hillmer F, Podleschny M, Steffens R, Pies A, Wörmann B, Haase D, Bohlander SK
Jazyk: angličtina
Zdroj: Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2005 Nov; Vol. 44 (3), pp. 329-33.
DOI: 10.1002/gcc.20235
Abstrakt: Chronic myeloid leukemia (CML) is characterized by the presence of a t(9;22)(q34;q11.2), which leads to the well-known BCR-ABL1 fusion protein. We describe a patient who was diagnosed clinically with a typical CML but on cytogenetic analysis was found to have a t(9;22)(p24;q11.2). Chromosomal fluorescence in situ hybridization showed that the BCR gene locus spanned the breakpoint at band 22q11.2 but that the ABL1 gene was not rearranged. By means of a candidate gene approach, the JAK2 gene, at 9p24, was identified as the fusion partner of BCR in this case. The BCR-JAK2 fusion protein contains the coiled-coil dimerization domain of BCR and the protein tyrosine kinase domain (JH1) of JAK2. The patient's disease did not respond to Imatinib, and this unresponsiveness was most likely a result of the BCR-JAK2 fusion protein.
((c) 2005 Wiley-Liss, Inc.)
Databáze: MEDLINE
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