Diagnosing Myelodysplastic Syndromes

Myelodysplastic syndromes are a group of disorders in which the bone marrow does not produce enough healthy blood cells. NYU Langone doctors specialize in diagnosing all types of these syndromes.

They can also determine how likely the condition is to respond to treatment or to progress to acute myeloid leukemia, or AML. This is called risk stratification, and it helps doctors create the best treatment plan for you.

Myelodysplastic syndromes occur when defective, immature blood-forming cells called stem cells do not mature into one or more types of healthy blood cells.

Myeloblasts, also called blast cells, may also develop. These are young blood cells produced by stem cells. Too many blast cells can further interfere with the production of red and white blood cells and platelets. Healthy people should not have any blasts in the bone marrow.

People who have a myelodysplastic syndrome that is associated with a reduced number of healthy red blood cells—a condition called anemia—may experience weakness and fatigue. Those with too few white blood cells may experience a greater number of infections. People with low platelet levels may experience problems with bleeding, commonly from the gums, and bruising.

Some people may have no symptoms. However, routine blood tests may show that a person has a reduced number of red or white blood cells or platelets.

Risk factors for developing myelodysplastic syndromes include exposure to substances such as rubber, detergents, and benzene, which is a liquid chemical used to make plastics. Smoking cigarettes also increases the odds of developing one of these conditions. NYU Langone doctors urge you to quit and provide assistance through our Tobacco Cessation Programs.

Although chemotherapy, the use of drugs to destroy cancer cells throughout the body, is often an important treatment option for people with cancer, it can also increase the odds of developing a myelodysplastic syndrome. Some chemotherapy drugs carry a higher risk than others. Prior radiation therapy for cancer further adds to this risk.

Some inherited conditions increase the risk of developing myelodysplastic syndromes. These include trisomy 21, which is more commonly known as Down syndrome. Myelodysplastic syndrome is also linked to paroxysmal nocturnal hemoglobinuria, in which red blood cells break down before they are supposed to, and Fanconi anemia, a disorder that affects the bone marrow.

The risk of developing a myelodysplastic syndrome increases with age. The majority of people diagnosed with the condition are older than age 60.

If doctors suspect you have a myelodysplastic syndrome, they may conduct blood tests and a bone marrow aspiration and biopsy. They also perform tests to determine whether the condition has a low, intermediate, or high risk of progressing to AML, a form of blood cancer.

Blood Tests

Blood is drawn to check the levels, shape, and size of white cells, red cells, and platelets. The levels of one or more blood cell types may be low in people who have a myelodysplastic disorder. When examined under a microscope by one of our hematopathologists—specialists who study diseases of the blood—blood cells may appear misshapen or have other abnormalities.

Blast cells, which are normally only present in the bone marrow, may be circulating in the bloodstream in people with myelodysplastic syndromes.

If blood test results indicate a myelodysplastic disorder may be present, doctors conduct a bone marrow aspiration and biopsy to diagnose the condition.

Bone Marrow Aspiration and Biopsy

NYU Langone doctors diagnose myelodysplastic syndromes using a bone marrow aspiration and biopsy. During this procedure, in which a local anesthetic is used, your doctor uses two small needles to remove bone marrow fluid and tissue from the pelvic bone in the lower back. You can go home the same day.

The cells are then sent to a laboratory where a hematopathologist uses sophisticated genetic testing to determine whether there are mutations in certain genes or breaks in the chromosomes. This can lead to problems with stem cell maturation, decreased production of different blood cells, and the development of increased blasts in the marrow.

The hematopathologist also measures the percentage of bone marrow blasts. A higher percentage of these blasts is associated with an increased chance of developing acute myeloid leukemia.

These tests help doctors evaluate the risk level of the myelodysplastic syndrome and whether you need medications or stem cell transplantation.

Risk Stratification

NYU Langone doctors use several factors to determine how well myelodysplastic syndromes may respond to treatment and how likely the condition is to progress. A person with a low-risk myelodysplastic syndrome may only need watchful waiting. However, someone with an intermediate- or high-risk syndrome may need treatment right away.

To determine risk, doctors consider the type of blood problem present. Having low levels of more than one type of blood cell can increase risk, meaning the condition may require treatment earlier. Sometimes, blood cell levels may not be low enough to cause symptoms, decreasing risk.

Doctors also categorize myelodysplastic syndrome by how many blasts are in the bone marrow. People with a blast level of less than 5 percent are considered to be in a low-risk category for experiencing symptoms and for having their condition progress to AML. Elevated levels of blasts—defined as the bone marrow containing at least 20 percent blasts—are associated with a higher risk of a myelodysplastic disorder progressing to AML.

Doctors perform sophisticated tests, which help them identify abnormal chromosomes in bone marrow cells. Chromosomes are the components of a person’s cells that carry genetic information. Healthy human cells have 23 pairs of chromosomes. Knowing whether the cells carry any specific abnormalities in the chromosomes helps your doctor determine whether myelodysplastic syndrome is high, intermediate, or low risk.