Color Atlas of Clinical Hematology

Abstract

The myelodysplastic syndromes (MDS) are a group of clonal hematopoietic stem cell diseases with cytopenia(s) and dysplastic features in one or more myeloid lineage. Clinically, patients with MDS have symptoms related to bone marrow failure with frequent infective episodes. As a consequence of these complications, many patients die of severe neutropenia or thrombocytopenia, but in others the disease progresses to frank acute myeloid leukemia (AML). Somatic mutations of genes involved in RNA splicing, DNA modification, chromatin regulation and cell signaling occur frequently. Adrenal hypoplasia is a rare, life‐threatening congenital disorder. A congenital form of adrenal hypoplasia with associated defects has been termed myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome. Clonal hematopoiesis occurs with increasing age. Clonal mutations are rare in the peripheral blood cells of persons younger than 40 years but increase in frequency with age, reaching nearly 20 percent in those over 90 years old. VN - readcube.com