Abstract
Myelodysplastic syndrome (MDS) is a clonal disease characterized by multilineage dysplasia, peripheral blood cytopenias, and a high risk of transformation to acute myeloid leukemia. In theory, from clonal hematopoiesis of indeterminate potential to hematologic malignancies, there is a complex interplay between genetic and epigenetic factors, including miRNA. In practice, karyotype analysis assigns patients to different prognostic groups, and mutations are often associated with a particular disease phenotype. Among myeloproliferative disorders, secondary MDS is a group of special entities with a typical spectrum of genetic mutations and cytogenetic rearrangements resembling those in de novo MDS. This overview analyzes the present prognostic systems of MDS and the most recent efforts in the search for genetic and epigenetic markers for the diagnosis and prognosis of MDS.
Highlights
Myelodysplastic syndromes (MDS) are a group of clonal diseases of hematopoietic stem cells and are characterized by multilineage dysplasia in immature myeloid cells, ineffective hematopoiesis, peripheral blood cytopenias and a high risk of transformation to acute myeloid leukemia (AML) [1].A retrospective analysis of 36,558 MDS cases revealed that the frequency of AML secondary to MDS was 3.7% in patients aged 40 years and under, and 2.5% in patients aged 40 years and over [2]
Secondary MDS is associated with symptomatic peripheral blood (PB) cytopenias and abnormal bone marrow (BM) cell morphology resembling those observed in primary MDS
refractory anemia with ringed sideroblasts (RARS) is characterized by myeloblasts making up less than 5% of bone marrow cells, but no less than 15% of red cell precursors appear as specific abnormal cells called “ringed sideroblasts”
Summary
Myelodysplastic syndromes (MDS) are a group of clonal diseases of hematopoietic stem cells and are characterized by multilineage dysplasia in immature myeloid cells, ineffective hematopoiesis, peripheral blood cytopenias and a high risk of transformation to acute myeloid leukemia (AML) [1]. Primary MDS is an aging-associated disease, while secondary MDS is quite a common occurrence in the youth [4]. Secondary MDS is associated with symptomatic peripheral blood (PB) cytopenias and abnormal bone marrow (BM) cell morphology resembling those observed in primary MDS. “Secondary MDS” has long been a name for the MDS that cancer patients develop following treatment with cytostatic agents (t-MDS) [5]. The best practices of diagnosing MDS include a comprehensive assessment of morphological data on biopsied BM samples, cytogenetic data, BM cell immunophenotyping data and PB test results.
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