title: Genetics factors associated with myelodysplastic syndromes.
abstract: The myelodysplastic syndromes (MDS) are a clinically and cytogenetically heterogeneous group of clonal diseases. Clonal chromosomal abnormalities are observed in 30-50% of patients with MDS. The deletions are among the most common alterations, and often involve the long arms of chromosomes 5, 7, 8, 13, and 20 and the short arms of chromosomes 12 and 17. The advent of new technologies for the detection of genetic abnormalities led to the description of a new set of recurrent mutations, leading to new insights into the pathophysiology of MDS. The recent recognition that genes involved in the regulation of histone function (EZH2, ASXL1, and UTX) and DNA methylation (DNMT3A, IDH1/IDH2, and TET2) are frequently mutated in MDS, has led to the proposal that there is an important link between genetic and epigenetic alterations in this disease. In fact, regulatory factors have also been considered as miR-143/miR-145, miR-146a, miR-125a and MiR-21. Somatic mutations may influence the clinical phenotype but are not included in current prognostic scoring systems. In recent years research has brought new insights into these diseases, but few of the findings are sufficiently robust to be incorporated into the clinical routine at this time. Thus, the aim of this study was to review the role of genetic factors involved in the diagnosis and development of the different phenotypes of MDS.
authors.affiliation: Sciences Basic Health Department, State University of Maringa, Maringa, PR, Brazil.
authors.forename: Luciana Conci
authors.initials: LC
authors.lastname: Macedo
authors.affiliation: Sciences Basic Health Department, State University of Maringa, Maringa, PR, Brazil.
authors.forename: Ana Paula Avenia
authors.initials: AP
authors.lastname: Silvestre
authors.affiliation: Sciences Basic Health Department, State University of Maringa, Maringa, PR, Brazil.
authors.forename: Camila
authors.initials: C
authors.lastname: Rodrigues
authors.affiliation: Sciences Basic Health Department, State University of Maringa, Maringa, PR, Brazil.
authors.forename: Josiane Bazzo
authors.initials: JB
authors.lastname: de Alencar
authors.affiliation: Sciences Basic Health Department, State University of Maringa, Maringa, PR, Brazil.
authors.forename: Joana Maira Valentini
authors.initials: JM
authors.lastname: Zacarias
authors.affiliation: Biotechnology, Genetics and Cellular Biology Department, State University of Maringa, Maringa, PR, Brazil.
authors.forename: Eliane Papa
authors.initials: EP
authors.lastname: Ambrosio-Albuquerque
authors.affiliation: Sciences Basic Health Department, State University of Maringa, Maringa, PR, Brazil.
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Sell
authors.affiliation: Sciences Basic Health Department, State University of Maringa, Maringa, PR, Brazil. Electronic address: jelvisentainer@uem.br.
authors.forename: Jeane Eliete Laguila
authors.initials: JE
authors.lastname: Visentainer
mesh_terms: D002869:Chromosome Aberrations / Q000145:classification*; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D015972:Gene Expression Regulation, Neoplastic; D056466:Histone Demethylases / Q000235:genetics / Q000378:metabolism; D006801:Humans; D035683:MicroRNAs / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D015398:Signal Transduction; D014157:Transcription Factors / Q000235:genetics / Q000378:metabolism
chemical_list: D035683:MicroRNAs; D009363:Neoplasm Proteins; D014157:Transcription Factors; D056466:Histone Demethylases
keywords: Cytogenetic abnormalities; Diagnosis; Epigenetic; Genetics; MDS