Expression of the TEL/EVI1 fusion transcript in a patient with chronic myelogenous leukemia with t(3;12)(q26;p13)

The t(3;12)(q26;p13) translocation is a recurrent chromosomal aberration observed in myeloid malignancies. It has been shown that the translocation results in the fusion of the TEL (ETV6) gene at 12p13 and the EV11 gene at 3q26. We report the first case with Philadelphia (Ph)-positive chronic myelogenous leukemia (CIVIL) expressing the TEL/EV11 fusion transcript. A 26-year-old man was initially diagnosed as having the chronic phase of Ph-positive CIVIL. The t(3;12)(q26;p13) emerged 16 months prior to the myeloid blastic crisis. Reverse transcriptase-polymerase chain reaction detected the TEL/EV11 transcript without the intervening 5' non-coding exon of EV11, suggesting that inappropriate expression of the EV11 protein driven by the TEL promotor could play a critical role in progression to the blast crisis of CML. (C) 2002 Wiley-Liss, Inc.