Diagnosis
If you have symptoms of myelodysplastic syndrome (MDS), see your doctor as soon as possible. MDS is a rare disease and an accurate diagnosis can be difficult, but is also extremely important. If you have symptoms, your doctor will conduct a physical exam and ask you about your medical history, family history, and lifestyle. If your doctor still suspects MDS, he or she may recommend the following procedures to accurately diagnose the disease:
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Bone Marrow Aspiration & Biopsy
Your doctor will perform this procedure to get a sample of your bone marrow for further testing. For this test, a doctor or nurse will numb your hip bone and use a needle to extract some solid bone and some bone marrow. A pathologist will then check the bone marrow tissue under a microscope. Your doctor will look at the size, shape, and appearance of the cells in your bone marrow as well as the number of blasts in the bone marrow.
Complete Blood Count (CBC)
A complete blood count (CBC) measures the levels of different types of cells in your blood. People with MDS often have too few red blood cells, and may also have too few white blood cells or platelets. A small amount of blast cells may be found in the blood in some people.
Peripheral Blood Smear
In this test, a blood doctor (hematologist) will examine a sample of your blood under a microscope. The doctor will look at the appearance and amount of the different types of cells in your blood and look for any abnormalities that may indicate MDS. Your doctor will also closely examine your red blood cells for signs of too much iron in your blood.
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Cytogenetic tests
Your doctor will examine your cancer cells for chromosome changes and look for abnormal chromosomes that are common in MDS. Some common chromosome abnormalities are missing chromosomes, extra chromosomes, and swapped chromosomes. For these tests, your doctor will grow a sample of bone marrow cells in the lab and examine the chromosomes under a microscope once the cells start dividing. Cell division is the easiest time to see the chromosomes.
Cytochemistry/Immunocytochemistry
In these tests, special stains or antibodies will be applied to a sample of your blood or bone marrow. These substances react with certain types of cells present in MDS, and produce visible stains that can be seen under a microscope. These tests help your doctor identify the specific type of MDS or leukemia.
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Flow Cytometry
In this procedure, your doctor will expose a sample of your blood or bone marrow to special antibodies that attach themselves only to certain substances in your cancer cells. Your doctor then passes the entire sample in front of a laser beam, which will make the substances with antibodies attached to them give off light. This test also helps your doctor identify your specific type of MDS.
Genetic Testing
The doctor may also recommend genetic testing to detect mutations of certain genes. These new tools may partially explain the disease mechanism and contribute to therapy and prognosis. There is a strong association between certain genetic mutations and disease risk, so genetic profiling allows the doctor to better advise on the patient's outcome, to better predict response to therapy, and to identify potential clinical trials using new targeted therapies. Examples of these are genes such as IDH1, IDH2 or FLT3 which, if present, may allow treatment with specific targeted drugs within clinical trials. Also, mutations in genes such as SF3B1, ASXL1, RUNX1 or TP53 may also allow to better define prognosis and plan therapy.
