title: Update on genetic and molecular markers associated with myelodysplastic syndromes.
abstract: Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid neoplasms defined by morphologic dysplasia, peripheral cytopenia and clonal instability with enhanced risk of transformation into acute myeloid leukemia. The prognosis and clinical picture in MDS vary depending on patient-related factors (age, gender, comorbidity), the disease variant, cell types affected and genes involved in the malignant process. In fact, more and more data suggest that cytogenetic and molecular defects and gene variants are associated with the clinical course and prognosis in MDS. Although certain molecular defects are indicative of distinct cytogenetic abnormalities, others represent point mutations in critical target genes (RUNX1, N-RAS, JAK2, KIT, others) and sometimes are associated with a particular type of MDS, an overlap disease, a co-existing hematopoietic neoplasm or disease progression. Although most are somatic mutations, germ line mutations and gene polymorphisms have also been described in MDS. Some of these mutations may influence the natural course of disease, iron accumulation or disease progression. The present article provides a summary of our current knowledge about molecular and genetic markers in MDS, with special reference to their potential prognostic and therapeutic implications.
authors.affiliation: Division of Hematology and Hemostaseology, Department of Internal Medicine I, Medical University of Vienna, Vienna, Austria. peter.valent@meduniwien.ac.at
authors.forename: Peter
authors.initials: P
authors.lastname: Valent
authors.forename: Rotraud
authors.initials: R
authors.lastname: Wieser
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis; D002869:Chromosome Aberrations; D020869:Gene Expression Profiling; D006801:Humans; D009190:Myelodysplastic Syndromes / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D017354:Point Mutation
chemical_list: D014408:Biomarkers, Tumor