Newly Diagnosed?
We Can Help Getting the correct diagnosis and the most appropriate treatment from the start is crucial 
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Myelodysplastic syndrome (MDS) can be difficult to diagnose. Several other diseases closely resemble this syndrome -- aplastic anemia; certain leukemias, including acute leukemias, NK leukemia and NK T cell leukemia; HIV infection; an overactive immune system; and chronic diseases, such as rheumatoid arthritis -- and MDS is often misdiagnosed as one of these. Unsuspected bleeding can be another symptom of MDS. Proper diagnosis is crucial so that the patient receives the most effective treatment for MDS. The disease is often not diagnosed until the patient is seen by a hematologist, and cannot be definitively diagnosed until a bone marrow sample taken from the patient is examined by an expert hematologist or hematopathologist.
Physicians perform a number of tests to help diagnose MDS and determine its specific subtype. The tests have the ability to:
- help determine if there are changes in the amounts of different kinds of circulating blood cells
- indicate whether the cells have an abnormal appearance when seen through a microscope
- show whether there are changes in the cellular makeup of the patient's bone marrow
- help to determine what changes have taken place in the genetic and molecular makeup of the diseased cells
- lead to the discovery of any other factors that are helpful in deciding on the most effective course of treatment for the patient
Blood Tests
Several different blood tests can show whether the amounts of various components of a patient's blood are within normal ranges. In MDS, red blood cell levels may be low, causing anemia; platelet levels may be low, which can cause bleeding and bruising; and white blood cell levels may be diminished, leading to infections.
Bone Marrow Tests
A biopsy of a bone marrow sample is used to determine the number of blasts, or immature, abnormal cells in the marrow. Physicians use a hollow needle inserted into the hipbone to remove a piece of marrow and bone for examination in a bone marrow biopsy. In a bone marrow aspirate, a small sample of liquid bone marrow is withdrawn through a syringe.
Other Tests
In addition to a blood test and a bone marrow biopsy, or bone marrow aspirate, doctors use a number of other tests to help them determine specific features of the cells in biopsied tissue, including genetic abnormalities -- such as chromosomal rearrangements -- which are common in MDS. This information helps physicians determine a patient's prognosis. These tests include:
- cytogenetic studies -- to determine chromosome changes in cells
- immunohistochemistry studies -- in which physicians use antibodies to identify specific marker proteins that are present on cells to distinguish between different types of cancer cells
- flow cytometry -- in which prepared cells are passed through a laser beam for analysis
- molecular genetic studies -- highly sensitive DNA and RNA tests to determine the specific genetic traits of cancer cells
New diagnostic tests and procedures are emerging from work on the human genome and gene expression analysis. These new procedures are likely to be important in the future but are currently experimental.
