title: The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes.
abstract: Myelodysplastic syndromes (MDS) are malignant clonal disorders of haematopoietic stem cells and their microenvironment, affecting older individuals (median age ∼70 years). Unique features that are associated with MDS - but which are not necessarily present in every patient with MDS - include excessive apoptosis in maturing clonal cells, a pro-inflammatory bone marrow microenvironment, specific chromosomal abnormalities, abnormal ribosomal protein biogenesis, the presence of uniparental disomy, and mutations affecting genes involved in proliferation, methylation and epigenetic modifications. Although emerging insights establish an association between molecular abnormalities and the phenotypic heterogeneity of MDS, their origin and progression remain enigmatic.
authors.affiliation: Myelodysplastic Syndromes Center, Columbia University Medical Center, Milstein Hospital Building, 6N-435, 177 Fort Washington Avenue, New York, New York 10032, USA. azra.raza@columbia.edu
authors.forename: Azra
authors.initials: A
authors.lastname: Raza
authors.forename: Naomi
authors.initials: N
authors.lastname: Galili
mesh_terms: D017209:Apoptosis / Q000235:genetics; D002843:Chromatin / Q000235:genetics; D002869:Chromosome Aberrations; D044127:Epigenesis, Genetic; D020869:Gene Expression Profiling; D016147:Genes, Tumor Suppressor; D006801:Humans; D035683:MicroRNAs; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000235:genetics* / Q000473:pathology*; D009857:Oncogenes; D012270:Ribosomes / Q000235:genetics / Q000378:metabolism; D017381:Spliceosomes / Q000235:genetics; D024182:Uniparental Disomy / Q000235:genetics / Q000473:pathology
chemical_list: D002843:Chromatin; D035683:MicroRNAs