RT Book, Section A1 Navada, Shyamala C. A1 Silverman, Lewis R. A2 Murray, Michael F. A2 Babyatsky, Mark W. A2 Giovanni, Monica A. A2 Alkuraya, Fowzan S. A2 Stewart, Douglas R. SR Print(0) ID 1102699983 T1 The Myelodysplastic Syndrome T2 Clinical Genomics: Practical Applications in Adult Patient Care YR 2014 FD 2014 PB McGraw-Hill Education PP New York, NY SN 9780071622448 LK accessmedicine.mhmedical.com/content.aspx?aid=1102699983 RD 2024/10/09 AB Disease summary:The myelodysplastic syndrome (MDS), a primary bone marrow failure state, represents a heterogeneous hematopoietic stem cell disorder, which results in abnormal cellular maturation and peripheral blood cytopenias. Greater than 50% of patients with MDS have clonal cytogenetic abnormalities, which help to stratify the disease into poor, intermediate, and good prognostic groups. The identification of recurrent mutations in MDS has led to insights into the pathophysiology of the disease.MDS is primarily a disease of older individuals with a median age of diagnosis over 70 years. It is more common in males than females.Although the clinical presentation is nonspecific, symptoms are primarily related to the cytopenias. The most common cytopenia is anemia; therefore, patients often present with fatigue, weakness, dyspnea on exertion, and angina pectoris.MDS is characterized by progressive bone marrow failure, and the most common causes of death in higher-risk patients are infection and bleeding.Approximately 35% to 40% of patients with MDS progress to acute myeloid leukemia (AML), which confers a poor prognosis.