MDS is defined as ineffective hematopoiesis characterized by adequate or increased hematologic elements in bone marrow with peripheral cytopenia. Therefore, the presence of cytopenia in one or more hematologic lines is necessary for the diagnosis of MDS. However, numerous reactive conditions other than MDS can cause cytopenia and these conditions must be distinguished from MDS. While dysplasia in hematologic cells is an indication of the diagnosis of MDS, the presence of mutations along with cytopenia is the most conclusive evidence for the diagnosis of MDS. Normal individuals above the age of 50 may show mutation in some genes (ASXL1, TET2, DNMT3, and TP53), however, the level (Variant allele frequency, VAF) […]
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