title: 3q26/EVI1 rearrangements in myeloid hemopathies: a cytogenetic review.
abstract: The EVI1 gene, located in chromosomal band 3q26, is a transcription factor that has stem cell-specific expression pattern and is essential for the regulation of self-renewal of hematopoietic stem cells. It is now recognized as one of the dominant oncogenes associated with myeloid leukemia. EVI1 overexpression is associated with minimal to no response to chemotherapy and poor clinical outcome. Several chromosomal rearrangements involving band 3q26 are known to induce EVI1 overexpression. They are mainly found in acute myeloid leukemia and blastic phase of Philadelphia chromosome-positive chronic myeloid leukemia, more rarely in myelodysplastic syndromes. They include inv(3)(q21q26), t(3;3)(q21;q26), t(3;21)(q26;q22), t(3;12)(q26;p13) and t(2;3)(p15-23;q26). However, many other chromosomal rearrangements involving 3q26/EVI1 have been identified. The precise molecular event has not been elucidated in the majority of these chromosomal abnormalities and most gene partners remain unknown.
authors.affiliation: 1Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France.|2Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.|3Service de Cytogénétique et Biologie de la Reproduction, Hôpital Morvan, CHRU Brest, Brest, France.
authors.forename: Marc
authors.initials: M
authors.lastname: De Braekeleer
authors.affiliation: 3Service de Cytogénétique et Biologie de la Reproduction, Hôpital Morvan, CHRU Brest, Brest, France.
authors.forename: Marie-Josée
authors.initials: MJ
authors.lastname: Le Bris
authors.affiliation: 5Haematological Cancer Genetics, Wellcome Trust Sanger Institute, Cambridge, UK.
authors.forename: Etienne
authors.initials: E
authors.lastname: De Braekeleer
authors.affiliation: 2Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.|3Service de Cytogénétique et Biologie de la Reproduction, Hôpital Morvan, CHRU Brest, Brest, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Basinko
authors.affiliation: 1Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France.|2Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.|3Service de Cytogénétique et Biologie de la Reproduction, Hôpital Morvan, CHRU Brest, Brest, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Morel
authors.affiliation: 1Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France.|2Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.|3Service de Cytogénétique et Biologie de la Reproduction, Hôpital Morvan, CHRU Brest, Brest, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Douet-Guilbert
mesh_terms: D056905:Chromosome Breakpoints; D002893:Chromosomes, Human, Pair 3; D004268:DNA-Binding Proteins / Q000235:genetics*; D015870:Gene Expression; D015321:Gene Rearrangement; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D000074008:MDS1 and EVI1 Complex Locus Protein; D011519:Proto-Oncogenes / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D000074008:MDS1 and EVI1 Complex Locus Protein; C063575:MECOM protein, human; D014157:Transcription Factors
keywords: EVI1; breakpoint distribution; chromosomal abnormalities; chromosome 3; myeloid hemopathies