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Expression of the TEL/EVI1 fusion transcript in a patient with chronic myelogenous leukemia with t(3;12)(q26;p13)
Author(s) -
Nakamura Yuichi,
Nakazato Hiroshi,
Sato Yuko,
Furusawa Shinpei,
Mitani Kinuko
Publication year - 2002
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.10028
Subject(s) - chromosomal translocation , fusion transcript , chronic myelogenous leukemia , myeloid leukemia , fusion gene , exon , microbiology and biotechnology , gene , reverse transcription polymerase chain reaction , biology , medicine , leukemia , gene expression , cancer research , immunology , genetics
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 (CML) expressing the TEL/EVI1 fusion transcript. A 26‐year‐old man was initially diagnosed as having the chronic phase of Ph‐positive CML. The t(3;12)(q26;p13) emerged 16 months prior to the myeloid blastic crisis. Reverse transcriptase‐polymerase chain reaction detected the TEL/EVI1 transcript without the intervening 5′ non‐coding exon of EVI1 , suggesting that inappropriate expression of the EVI1 protein driven by the TEL promotor could play a critical role in progression to the blast crisis of CML. Am. J. Hematol. 69:80‐82, 2002. © 2002 Wiley‐Liss, Inc.