| PubMed ID |
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25369334 |
Publish Date |
|
2014 |
| Journal |
|
Folia Biol (Praha) |
Species |
|
|
| Disease Type |
|
|
Technology |
|
|
| Title |
|
Frequent chromatin rearrangements in myelodysplastic syndromes--what stands behind? |
| Authors |
|
Pagacova E, Falk M, Falkova I, Lukasova E, Michalova K, Oltova A, Raska I, Kozubek S. |
| Affiliation |
|
Institute of Biophysics, Academy of Sciences of the Czech Republic, v. v. i., Brno, Czech Republic |
| Chromothripsis Definition |
|
Close-by breakpoints: NA
Copy number states: NA
Fragments random joining: NA |
| Abstract |
|
Myelodysplastic syndromes (MDS) represent a clinically and genetically heterogeneous group of clonal haematopoietic diseases characterized by a short survival and high rate of transformation to acute myeloid leukaemia (AML). In spite of this variability, MDS is associated with typical recurrent non-random cytogenetic defects. Chromosomal abnormalities are detected in the malignant bone-marrow cells of approximately 40-80 % of patients with primary or secondary MDS. The most frequent chromosomal rearrangements involve chromosomes 5, 7 and 8. MDS often shows presence of unbalanced chromosomal changes, especially large deletions [del(5), del(7q), del(12p), del(18q), del(20q)] or losses of whole chromosomes (7 and Y). The most typical cytogenetic abnormality is a partial or complete deletion of 5q- that occurs in roughly 30 % of all MDS cases either as the sole abnormality or in combination with other aberrations as a part of frequently complex karyotypes. The mechanisms responsible for the formation of MDS-associated recurrent translocations and complex karyotypes are unknown. Since some of the mentioned aberrations are characteristic for several haematological malignancies, more general cellular conditions could be expected to play a role. In this article, we introduce the most common rearrangements linked to MDS and discuss the potential role of the non-random higher-order chromatin structure in their formation. A contribution of the chromothripsis - a catastrophic event discovered only recently - is considered to explain how complex karyotypes may occur (during a single event). |
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