title: Breakpoint heterogeneity in (2;3)(p15-23;q26) translocations involving EVI1 in myeloid hemopathies.
abstract: Several chromosomal rearrangements involving band 3q26 are known to induce EVI1 overexpression. They include inv(3)(q21q26), t(3;3)(q21;q26), t(3;21)(q26;q22) and t(3;12)(q26;p13). Translocations involving the short arm of chromosome 2 and 3q26 have been reported in more than 50 patients with myeloid disorders. However, although the breakpoints on 2p are scattered over a long segment, their distribution had only been analyzed in 9 patients. We performed fluorescent in situ hybridization with a library of BAC (Bacterial Artificial Chromosome) clones in 4 patients with t(2;3)(p15-23;q26). Our results combined with those of the 9 previously reported patients showed scattering of the breakpoints in 2 regions. A 1.08Mb region in band 2p21 encompassing the MTA3, ZFP36L2 and THADA genes was documented in 5 patients. A second region of 1.83Mb in band 2p16.1 was identified in 8 patients. Four patients showed clustering around the BCL11A gene and the remaining 4 around a long intergenic non-coding RNA, FLJ30838. These regions are characterized by the presence of regulatory sequences (CpG islands and promoters) that could be instrumental in EVI1 overexpression.
authors.affiliation: Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France; Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France; Service de Cytogénétique et Biologie de la Reproduction, Hôpital Morvan, CHRU Brest, Brest, France. Electronic address: marc.debraekeleer@univ-brest.fr.
authors.forename: Marc
authors.initials: M
authors.lastname: De Braekeleer
authors.affiliation: Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France; Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France.
authors.forename: Nadia
authors.initials: N
authors.lastname: Guéganic
authors.affiliation: Service de Cytogénétique et Biologie de la Reproduction, Hôpital Morvan, CHRU Brest, Brest, France.
authors.forename: Corine
authors.initials: C
authors.lastname: Tous
authors.affiliation: Service 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: Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France; Service de Cytogénétique et Biologie de la Reproduction, Hôpital Morvan, CHRU Brest, Brest, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Basinko
authors.affiliation: Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France; Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France; Service de Cytogénétique et Biologie de la Reproduction, Hôpital Morvan, CHRU Brest, Brest, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Morel
authors.affiliation: Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Brest, Brest, France; Institut National de la Santé et de la Recherche Médicale (INSERM), U1078, Brest, France; Service 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: D000328:Adult; D000368:Aged; D000753:Anemia, Refractory / Q000235:genetics* / Q000473:pathology; D056905:Chromosome Breakpoints; D007446:Chromosome Inversion; D022202:Chromosomes, Artificial, Bacterial; D002889:Chromosomes, Human, Pair 2; D002893:Chromosomes, Human, Pair 3; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D015723:Gene Library; D018740:Genetic Heterogeneity; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D000074008:MDS1 and EVI1 Complex Locus Protein; D008297:Male; D008875:Middle Aged; D011519:Proto-Oncogenes / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; D000074008:MDS1 and EVI1 Complex Locus Protein; C063575:MECOM protein, human; D014157:Transcription Factors
keywords: Breakpoint distribution; Chromosomal translocation; Chromosome 2; EVI1; Myeloid hemopathies