American Journal of Hematology · 2001 · 21 citations · 8 references
Life SciencesHematologyMolecular GeneticsCytogeneticsGene ExpressionMolecular OncologyCancer CytogeneticsGene Fusions In CancerMolecular CytogeneticsOncogenic Fusion GenesBlast CrisisFusion Transcript AnalysisFusion Transcript DetectionHematologic Malignancy FusionsLeukemia CytogeneticsLeukemia PathologyLeukemia-associated Fusion GenesMyeloid Neoplasms
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.
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The oncoprotein Evi-1 represses TGF-β signalling by inhibiting Smad3
Mineo Kurokawa, Kinuko Mitani, Kenji Irie et al. · Nature · 1998 · 379 citations
Fusion of ETV6 to MDS1/EVI1 as a result of t(3;12)(q26;p13) in myeloproliferative disorders.
Pieter J. Peeters, Mathijs Baens, A. Criel et al. · PubMed · 1997 · 135 citations