Myelodysplastic syndromes (MDS) are heterogeneous hematological neoplasms which lead to dysplasia, cytopenia and hematopoiesis. They have a risk of transforming into Acute Myeloid Leukemia (AML) in some cases. Genetic markers that are determined by cytogenetics, SNP-A karyotyping and molecular mutations have evolved to define conditions of pathogenesis and risk evaluation for the development of AML. Among the concerned are the mutations of the spliceosome (SF3B1, SRSF2, ZRSR2 and U2AF1) epigenetic mutations (DNMT3A, EZH2) and also mutations in transcription factors (RUNX1) and tyrosine kinases (N-RAS, K-RAS). Here, we report a case of an 80-year-old female patient presented for the evaluation of myeloma. A morphology report shows changes that suggest multiple myeloma. Lab data shows anemia, elevated creatinine and calcium; CBC revealed mild neutrophilic leukocytosis and microcytic anemia. Bone marrow demonstrated approximately 50-60% involvement by a plasma cell infiltrate; there was mild dysgranulopoiesis and dyserythropoiesis which are suggestive of plasma cell myeloma. Frequent mutations in MDS and overlap syndromes were discovered due to advances in genomic studies. The differential diagnosis of MDS is challenging because they overlap the disorders sharing features of other illnesses. It is expected that more research on MDS and overlapping disorders will highlight the roles of mutations as “therapeutic targets” and “prognostic indicators”.
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