Prognostic Implications of Cytogenetic Features in Myelodysplastic Syndromes

Abstract

Myelodysplastic Syndromes (MDS) are a heterogeneous group of hematological diseases characterized by refractory cytopenia(s) and variable risk of leukemic progression. Cytogenetic analysis is important in day-to-day clinical practice helping to define subgroups of MDS patients who share similarities in the course of the disease. There are recurring aberrations affecting chromosomes 5, 7, 8, and 20. While all of them do not suggest a therapeutic approach, their presence has been considered as a risk indicator since the original international prognostic scoring system (IPSS) was published. The most recent cytogenetic stratifications tried to find the prognostic significance of less frequent alterations which have been longer included in the intermediate group. Moreover, monitoring of karyotype changes is suggested to evaluate cytogenetic response to treatments and the acquisition of new aberrations associated to an unfavorable outcome. This review focuses on different cytogenetic risk stratifications that have been published during the past twenty years and the molecular background of the most relevant chromosomal findings.