Myelodysplastic Syndromes (MDS)
Myelodysplastic syndromes are diagnosed in about 1/25,000 people mostly over age 60. In MDS, blood stem cells in the bone marrow do not mature correctly so that immature (blast) cells and abnormally developed (dysplastic) cells begin to crowd the marrow. Symptoms are related to a shortage of healthy, mature red and white blood cells and platelets in the circulation. The MDS category includes types of refractory anemia and refractory cytopenia. About 20% of cases are considered secondary MDS and are attributed to radiation or chemotherapy treatment years earlier for another condition. Some MDS progresses to acute myeloid leukemia (AML). Treatments include blood transfusion, growth factors to stimulate red and white blood cell production, chemotherapy, and transplant of the patient’s own stem cells or bone marrow from a donor.
Role of our laboratory tests
Tests NeoGenomics performs for MDS on blood and bone marrow include:
- Morphology studies are performed by a pathologist who examines cells under the microscope. Colored stains help identify cell types and distinguish normal from abnormal maturation.
- Cytogenetics is analysis of chromosomes in individual marrow or blood cells. About half of samples from people with MDS have at least one chromosome abnormality, most commonly involving chromosomes 5, 7, 8, 11, 12, and 20. Certain combinations of changes are associated with milder disease, and some correlate with a more serious prognosis. The photographed, ordered spread of analyzed chromosomes is called a karyotype.
- FISH, or fluorescence in situ hybridization, uses fluorescent DNA probes and microscopy to scan the chromosomes of a large number of cells for changes that may be too infrequent or too subtle to detect by cytogenetics. FISH analyzes only chromosome regions the laboratory targets, while cytogenetics provides an overview of all chromosomes at the same time.
- Flow cytometry is a high-capacity, automated method of examining the inner contents and outer surface of cells in a patient’s sample. Fluorescent dyes stain the DNA to measure growth rate and stage. Fluorescently-labeled antibodies can attach to surface targets on the patient’s cells. The labeled cells are passed though a laser and a set of sensors that capture and process the fluorescence information into a pattern that reveals clusters of different cells within the original patient sample. Flow cytometry is very useful in determining subtypes of MDS.
Recent Research Highlights
Support and Information Resources
- Aplastic Anemia & MDS International Foundation
The AA&MDSIF is a leading nonprofit health organization dedicated to supporting patients and families living with aplastic anemia, myelodysplastic syndromes (MDS), paroxysmal nocturnal hemoglobinuria (PNH), and related bone marrow failure diseases.
- Leukemia & Lymphoma Society
The mission of the Leukemia & Lymphoma Society is to cure leukemia, lymphoma, Hodgkin's disease and myeloma, and improve the quality of life of patients and their families. Support is provided for additional conditions.
Clinical Trials
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