- Myelodysplastic syndromes (MDS) primarily affect elderly adults, with median age at diagnosis of 76 years.
- MDS are associated with environmental, occupational, and therapeutic exposures to chemicals or radiation.
- The clonal population of cells manifested as MDS results from enhanced self-renewal of a hematopoietic stem cell or acquisition of self-renewal in a progenitor cell, increased proliferative capacity in the abnormal clone, impaired cell differentiation, evasion of immune regulation, and antiapoptotic mechanisms in the disease-sustaining cell.
- Most patients with MDS present with fatigue and lethargy or symptoms related to anemia-induced tissue hypoxia.
- The prognosis of patients with MDS is variable. Overall survival time ranges from a few months to several years and can be estimated with the International Prognostic Scoring System (IPSS) or International Prognostic Scoring System—Revised (IPSS-R).
- The primary goal of therapy is hematologic improvement for low-risk patients and alteration in the natural course of the disease for high-risk patients. Palliation of symptoms and improvement in quality of life are goals of therapy for all patients.
- Current guidelines recommend erythropoietin (EPO) or darbepoetin for management of anemia in patients with MDS.
- Hypomethylating agents are appropriate for patients with low-risk and intermediate-1-risk MDS with clinically significant neutropenia or thrombocytopenia, patients with anemia who are unlikely to respond to or have not responded to a trial of EPO, and patients who qualified for and failed immunosuppressive therapy.
- Antithymocyte globulin is appropriate treatment for low or intermediate-1 IPSS risk, human leukocyte antigen DR15 positive expressing MDS in patients with symptomatic anemia that is unlikely to respond to erythropoietic agents.
- Lenalidomide is the recommended initial treatment for low-risk 5q- syndrome accompanied by symptomatic anemia.
- Allogeneic hematopoietic stem cell transplantation offers potentially curative therapy to patients with MDS who have a donor and are healthy enough for the procedure.
On completion of the chapter, the reader will be able to:
Explain the pathophysiology of myelodysplastic syndromes.
Discern the class of chemotherapeutic agents that contributed to the development of myelodysplastic syndromes given cytogenetic analysis of the bone marrow.
Identify symptoms a patient may present with that are consistent with a diagnosis of myelodysplastic syndrome.
Describe testing that should be done to diagnose a patient with myelodysplastic syndrome.
Calculate the International Prognostic Scoring System risk score for a patient with myelodysplastic syndrome when given percentage of bone marrow blasts, cytogenetics, and number of cytopenias.
Discern the goals of therapy for a patient with myelodysplastic syndrome based on age, presence of symptoms, International Prognostic Scoring System risk score, and eligibility for allogeneic hematopoietic stem cell transplantation.
Recommend appropriate supportive care for a patient with symptomatic myelodysplastic syndrome.
Compare the rates of complete response, hematologic improvement, and overall survival of therapeutic options used to treat myelodysplastic syndromes.
Recommend an appropriate therapeutic regimen for a patient given his or her International Prognostic Scoring System risk category, age, cytogenetic information, and eligibility for allogeneic hematopoietic stem cell transplantation.
Determine the likelihood of response to erythropoiesis-stimulating agents based on erythropoietin level and ...