Haema 2011; 2(2): 177-186
by Charikleia Κelaidi1, Constantina Sabani2
1Department of Haematology and Bone Marrow Transplantation, G. Papanikolaou Hospital, Thessaloniki, Greece
2Laboratory of Health Physics & Environmental Health, National Center for Scientific Research “Demokritos”, Athens, Greece.
Evolving epidemiological data further establish the importance of cytogenetics in Myelodysplastic Syndromes (MDS). The prognostic impact of recurrent cytogenetic abnormalities is emphasized in the recently revised International Prognostic Scoring System (IPSS-R). Genome-wide detection of copy number variations and next generation sequencing of targeted genes have revealed new gene mutations and cryptic chromosome rearrangements. Emerging models of molecular pathogenesis including epigenetic deregulation, genomic instability, haploinsufficiency of microRNAs and ribosomopathies may explain the heterogeneity of MDS, improve diagnostic and prognostic stratification of patients and determine new therapeutic targets. Moreover, existing treatments could be tailored to specific mutations.