The myelodysplastic syndromes (MDS) are associated with a diverse set of acquired
somatic genetic abnormalities. Bone marrow karyotyping provides important diagnostic
and prognostic information and should be attempted in all patients who are suspected
of having MDS. Fluorescent in situ hybridization (FISH) studies on blood or marrow
may also be valuable in selected cases, such as patients who may have 5q- syndrome
or those who have undergone hematopoietic stem cell transplantation. The MDS-associated
cytogenetic abnormalities that have been defined by karyotyping and FISH studies have
already contributed substantially to our current understanding of the biology of malignant
myeloid disorders, but the pathobiological meaning of common, recurrent chromosomal
lesions such as del(5q), del(20q), and monosomy 7 is still unknown. The great diversity
of the cytogenetic findings described in MDS highlights the molecular heterogeneity
of this cluster of diseases. We review the common and pathophysiologically interesting
genetic abnormalities associated with MDS, focusing on the clinical utility of conventional
cytogenetic assays and selected FISH studies. In addition, we discuss a series of
well-defined MDS-associated point mutations and outline the potential for further
insights from newer techniques such as global gene expression profiling and array-based
comparative genomic hybridization.
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