Diagnosis of myelodysplastic syndromes: the classic and the novel

The myelodysplastic syndromes myelodysplastic syndromes: (my-eh-lo-diss-PLASS-tik SIN-dromez) A group of disorders where the bone marrow does not work well, and the bone marrow cells fail to make enough healthy blood cells. Myelo refers to the bone marrow. Dysplastic means abnormal growth or development. People with MDS have low blood cell count for at… (MDS) are a heterogenous group of clonal bone marrow bone marrow: The soft, spongy tissue inside most bones. Blood cells are formed in the bone marrow. (BM) stem cell myeloid neoplasms, characterized by BM dysplasia, macrocytic anemia anemia: (uh-NEE-mee-uh) A condition in which there is a shortage of red blood cells in the bloodstream. This causes a low red blood cell count. Symptoms of anemia are fatigue and tiredness. or cytopenia cytopenia: (sie-tuh-PEE-nee-uh) A shortage of one or more blood cell types. Also called a low blood count. with a tendency for leukemic transformation. The suspicion of MDS is raised by a typical but not specific clinical picture and routine laboratory findings, but the gold standard for the diagnosis of MDS is still BM examination with the presence of uni-or multi-lineage dysplasia and blast percentage, together with exclusion of other reasons. Cytogenetics Cytogenetics: (sie-toe-juh-NEH-tiks) The study of chromosomes (DNA), the part of the cell that contains genetic information. Some cytogenetic abnormalities are linked to different forms of myelodysplastic syndromes (MDS). is also a part of the diagnostic process. Flow cytometry Flow cytometry: (sy-TOM-uh-tree) A laboratory test that gives information about cells, such as size, shape, and percentage of live cells. Flow cytometry is the test doctors use to see if there are any proteins missing from the surface of blood cells. It is the standard test for confirming a diagnosis of paroxysmal… and genetics are helpful but are not always mandatory for the diagnosis of MDS. This review summarizes the current steps in the diagnostic approach for a patient suspected of having MDS. We also describe new concepts that use non-invasive diagnostic technologies, especially digital methods as well as peripheral blood genetics. The hope is that one day these will mature, be introduced into clinical practice, and perhaps in many cases even replace the invasive BM biopsy.