Abstract
Diagnosis of myelodysplastic syndromes (MDS) is based on cytopenia(s), bone marrow morphology, and cytogenetics. Cytogenetics is helpful both to assess clonality and to identify typical aberrations. Chromosomal rearrangements are usually investigated through the karyotype after chromosome banding. Further insights may be obtained from higher resolution genome technologies, such as FISH and SNP arrays. One distinct clinico-pathologic entity diagnosed by the presence of an isolated deletion at chromosome 5q, so-called MDS with isolated del(5q), has been included in the WHO 2008 classification. Cytogenetics is also necessary to calculate prognostic scores at diagnosis of MDS. Chromosome abnormalities predict both survival and MDS evolution to acute myeloid leukemia.
Published Version
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