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Breakpoint heterogeneity in (2;3)(p15-23;q26) translocations involving EVI1 in myeloid hemopathies.
- Source :
-
Blood cells, molecules & diseases [Blood Cells Mol Dis] 2015 Feb; Vol. 54 (2), pp. 160-3. Date of Electronic Publication: 2014 Nov 26. - Publication Year :
- 2015
-
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.<br /> (Copyright © 2014 Elsevier Inc. All rights reserved.)
- Subjects :
- Adult
Aged
Anemia, Refractory pathology
Chromosome Inversion
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 3
Female
Gene Expression
Gene Library
Humans
In Situ Hybridization, Fluorescence
Leukemia, Myeloid, Acute pathology
MDS1 and EVI1 Complex Locus Protein
Male
Middle Aged
Translocation, Genetic
Anemia, Refractory genetics
Chromosome Breakpoints
DNA-Binding Proteins genetics
Genetic Heterogeneity
Leukemia, Myeloid, Acute genetics
Proto-Oncogenes genetics
Transcription Factors genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1096-0961
- Volume :
- 54
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Blood cells, molecules & diseases
- Publication Type :
- Academic Journal
- Accession number :
- 25486926
- Full Text :
- https://doi.org/10.1016/j.bcmd.2014.11.015