![]() Multiple hereditary predispositions to MDS have been discovered (familial MDS) a mutation in at least one of seven well-defined single-gene loci is reported as predisposing one to an increased lifetime risk of primary MDS. Rare, inherited predispositions to primary MDS associated with BM failure syndromes, aplastic anemia, Fanconi anemia, dyskeratosis congenita, Diamond–Blackfan anemia, Shwachman–Diamond syndrome, and paroxysmal nocturnal hemoglobinuria are widely described in the literature, mainly in pediatric settings these are not included within the MDS group. In a majority of the cases, MDS are acquired diseases related to aging ( de novo cases) or are secondary to environmental/occupational exposure to toxic compounds, benzene, smoking, ionizing radiation, or antineoplastic or immunosuppressive therapy (therapy-related MDS, t-MDS). The common features of MDS are: i) morphological dysplasia in one or more lineages ii) a blast percentage less than 20% in the PB and BM iii) the presence of cytogenetic and molecular genetic abnormalities in up to 90% of de novo cases and iv) the variable risk of evolution to acute leukemia, mainly in the absence of peripheral leukocytosis. MDS are characterized by ineffective hematopoiesis, resulting in increased apoptosis of the bone marrow (BM) and peripheral blood (PB) cytopenia involving one or more lineages. Epigenetic changes, such as DNA methylation/hydroxymethylation, histone demethylation/modifications, and transcription coregulation, are reported as ‘founder’ mutations in the case of MDS, and their key roles in the differentiation and aging of HSCs drive stable clonal changes in gene expression, thereby leading to maturation pathway dysfunctions. MDS are a heterogeneous and complex group of clonal hematological neoplasms arising from a hematopoietic stem cell (HSC). Keywords: Myelodysplastic syndromes (MDS), WHO 2016 classification, Diagnosis, Prognostication Bone marrow biopsy and flow cytometric immunophenotyping also offer support for further diagnostic elucidation, while cytogenetics and molecular genetics are presently fully integrated into prognostication, treatment processes, and decision-making. In most of the cases, diagnosis is based on the morphologic quantitative and qualitative evaluation of the peripheral blood and bone marrow using basic hematological techniques. It recognizes six distinct entities in addition to a provisional entity of childhood. The diagnostic classification, now in use, is the one of the World Health Organization, revised in August 2016. ![]() It affects men more frequently than it does women, and its incidence increases with age. Its incidence in the general population has been reported as five new MDS diagnoses per 100,000 people. Epigenetic changes are reported as ‘founder’ mutations in the case of MDS. MDS are a heterogeneous and complex group of clonal hematological neoplasms arising from a hematopoietic stem cell, and characterized by ineffective hematopoiesis, resulting in increased apoptosis in the bone marrow and peripheral cytopenia, which involves one or more lineages.
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