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@article{1594216,
author = {Pagáčová, E and Falk, Martin and Falková, I and Lukášová, Emilie and Michalová, K and Oltová, A and Raška, I and Kozubek, Stanislav},
article_location = {Praha},
language = {eng},
issn = {0015-5500},
journal = {Folia biologica},
title = {Frequent chromatin rearrangements in Myelodysplastic syndromes - What stands behind?},
volume = {60},
year = {2014}
}
TY - JOUR
ID - 1594216
AU - Pagáčová, E - Falk, Martin - Falková, I - Lukášová, Emilie - Michalová, K - Oltová, A - Raška, I - Kozubek, Stanislav
PY - 2014
TI - Frequent chromatin rearrangements in Myelodysplastic syndromes - What stands behind?
JF - Folia biologica
VL - 60
SP - 1-7
EP - 1-7
PB - Institute of Molecular Genetics
SN - 00155500
N2 - 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).
ER -
PAGÁČOVÁ, E, Martin FALK, I FALKOVÁ, Emilie LUKÁŠOVÁ, K MICHALOVÁ, A OLTOVÁ, I RAŠKA a Stanislav KOZUBEK. Frequent chromatin rearrangements in Myelodysplastic syndromes - What stands behind? \textit{Folia biologica}. Praha: Institute of Molecular Genetics, 2014, roč.~60, s.~1-7. ISSN~0015-5500.
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