Myelodysplastic Syndrome: From Diagnosis to Treatment

In this compilation, the authors review the biological aspects of myelodysplastic syndrome disease, diagnosis, and treatment, as well as innovations involving genetics and new treatment perspectives. Myelodysplastic syndromes are a heterogeneous group of clonal haematopoietic stem cells disorders characterized by dysplasia, as well as peripheral blood cytopenias with a hypercellular marrow and ineffective hematopoiesis. Myelodysplastic syndromes are frequently associated with acute and chronic inflammation, and autoimmune disorders such as: rheumatoid arthritis, bowel disease, diverse types of vasculitis, autoimmune anemias, several rheumatic and skin disorders, and certain thyroid disorders. Spliceosome mutations are the most frequent mutations found in blood and bone marrow cells of myelodysplastic syndromes patients. As such, the authors explore the four predominant splicing factor genes: SF3B1, SFRS2, U2AF1, ZRSR2. Subsequently, this collection discusses the CSNK1A1 gene in the context of myelodysplastic syndromes. It is located at 5q32 within the deleted region, which encodes for casein kinase 1a (CK1a). CK1a is a component of a multiprotein -catenin destruction complex that regulates Wnt/-catenin and p53 pathways. The concluding study focuses on the mutations in epigenetic modifiers occur which myelodysplastic syndromes and drive this disease, such as: DNA methylation, histone acetylation, and RNA interference that alters gene expression.