From the Guidelines
Myelodysplastic syndromes (MDS) are a group of myeloid clonal hematopathies characterized by a heterogeneous spectrum of presentation, with diagnosis and disease stratification based on multiple factors, including clinical data, peripheral blood and bone marrow morphology, and molecular abnormalities 1. MDS primarily affects older adults, with an incidence of approximately 4.5 per 100,000 people per year, and is rare among children and young adults 1. The condition is characterized by ineffective production of blood cells in the bone marrow, leading to low blood counts (cytopenias) and potentially progressing to acute myeloid leukemia (AML) 1. Key characteristics of MDS include:
- Ineffective production of blood cells in the bone marrow
- Abnormal, immature blood cells that fail to develop properly and often die prematurely
- Low blood counts (cytopenias)
- Potential progression to acute myeloid leukemia (AML)
- Primarily affects older adults Treatment of MDS depends on the subtype and risk category, ranging from supportive care with transfusions and growth factors to hypomethylating agents like azacitidine or decitabine, with stem cell transplantation remaining the only potentially curative option for eligible patients 1. The management of MDS is complicated by the generally advanced age of the patients, the presence of nonhematologic comorbidities, and the relative inability of older patients to tolerate certain intensive forms of therapy 1.
From the Research
Definition of MDS
- Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic stem cell disorders characterized by dysplasia, ineffective hematopoiesis leading to peripheral blood cytopenias, and a variable risk of leukemic progression 2.
- MDS are clonal hematopoietic malignancies that cause morphologic bone marrow dysplasia along with anemia, neutropenia, or thrombocytopenia 3.
- MDS are a very heterogeneous group of myeloid disorders characterized by peripheral blood cytopenias and increased risk of transformation to acute myelogenous leukemia (AML) 4, 5, 6.
Characteristics of MDS
- MDS primarily affects the elderly, and although its prevalence is increasing, MDS is frequently overlooked and underdiagnosed 2.
- The yearly incidence of MDS is approximately 4 per 100 000 people in the United States and is higher among patients with advanced age 3.
- MDS are associated with an increased risk of acute myeloid leukemia (AML) 3, 4, 5, 6.
- MDS are characterized by reduced numbers of peripheral blood cells, an increased risk of acute myeloid leukemia transformation, and reduced survival 3.
Diagnosis of MDS
- Diagnosis of MDS is based on morphological evidence of dysplasia upon visual examination of a bone marrow aspirate and biopsy 4, 5, 6.
- Information obtained from additional studies such as karyotype, flow cytometry, or molecular genetics is complementary but not diagnostic 4, 5, 6.
- MDS should be suspected in any patient with unexplained cytopenias, and a bone marrow evaluation is ultimately needed to make the diagnosis and exclude other causes of bone marrow failure 2.