The presence of del(5q), either as the sole karyotypic abnormality or as part of a more complex karyotype, has distinct clinical implications for myelodysplastic syndromes (MDS) and acute myeloid leukemia. Interstitial 5q deletions are the most frequent chromosomal abnormalities in MDS and are present in 10% to15% of MDS patients. Two different critical regions are described, one at 5q31-q33 containing the CSF1R and RPS14 gene regions, characteristic for the ‘5q-‘ syndrome, and a more proximal located region at 5q13-q31 containing the CDC25C and EGR1 gene regions.
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