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Biol."],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>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\u201380 % 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 5qthat 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 \u2013 a catastrophic event discovered only recently \u2013 is considered to explain how complex karyotypes may occur (during a single event).<\/jats:p>","DOI":"10.14712\/fb2014060s10001","type":"journal-article","created":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T09:53:09Z","timestamp":1767693189000},"page":"S1-S7","source":"Crossref","is-referenced-by-count":0,"special_numbering":"Suppl. 1","title":["Frequent Chromatin Rearrangements in Myelodysplastic Syndromes \u2013 What Stands Behind?"],"prefix":"10.14712","volume":"60","author":[{"given":"E.","family":"Pag\u00e1\u010dov\u00e1","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Falk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Falkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Luk\u00e1\u0161ov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Michalov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Oltov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Ra\u0161ka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Kozubek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"5727","published-online":{"date-parts":[[2026,1,6]]},"reference":[{"key":"fb2014060S10001_1","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.leukres.2012.12.010","volume":"37","author":"Adema","year":"2013","journal-title":"Leuk. 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