Tests and treatment for myelodysplastic syndrome (MDS)

To diagnose MDS, you have blood tests and bone marrow tests.

The blood tests show how many normal blood cells and how many abnormal or immature cells you have.

For a bone marrow test, a doctor or specialist nurse removes a sample of bone marrow to examine it closely. This is usually taken from your hip. Bone marrow is the soft area at the centre of some of our bones. You usually have the test in the outpatient department of the hospital.

As well as looking at the bone marrow cells, your doctor tests for abnormalities in your chromosomes. Chromosomes contain the genetic material inside the cells. These tests are called cytogenetics (pronounced sigh-toe gen-et-ics).

Doctors are learning more about MDS all the time. You might have other tests done on the bone marrow to look for other gene changes. You might hear this called next generation sequencing (NGS).

Doctors can look at the results of cytogenetics and NGS tests together. This can help them with understanding the risk of your MDS changing to AML.

Treatment for myelodysplastic syndromes

The type of treatment you have depends on:

• your type of MDS
• your risk group
• whether you have any other health conditions

The aim of treatment is to get the number and type of blood cells in the bloodstream back to normal.

For MDS that is classed as low risk, you are likely to have very few or no symptoms. You might not need treatment at first. Instead you will have regular check ups including blood tests. At some point, most people need to have treatment to control the symptoms of a low blood cell count. This is called supportive treatment.

For intermediate or high risk MDS, you may need prompt treatment. Treatments include chemotherapy or a donor stem cell transplant.

The only way to cure MDS is to have intensive treatment with a stem cell transplant from a donor. But this type of treatment is not suitable for everyone.

Supportive treatment

Supportive treatment aims to help control the symptoms of MDS. The supportive treatment you need will depend on which type of MDS you have. You might need a combination of treatments.

Transfusions

You may have transfusions to treat your MDS. If your red blood cells are low, you have a drip containing red blood cells. If your platelets are low you have a drip of a clear fluid containing platelets.

Having a lot of blood transfusions can cause a build up of iron in your body. Red blood cells contain iron and your body stores this. But too much iron in your body can damage your heart and liver. To stop this, you might need to take drugs to get rid of the excess iron.

Growth factors

Growth factors are drugs that encourage your bone marrow to make more blood cells. We know from research that this can reduce the number of blood transfusions you need.

Erythropoetin is a growth factor that increases the number of red blood cells. Granulocyte colony stimulating factor (G-CSF) is a growth factor that increases the number of white blood cells. Which one you have depends on your symptoms and blood counts. You have both of these drugs as injections just under the skin (subcutaneously).

Antibiotics

You might also need to take antibiotics to treat infections. When your white blood cell count is low, it is more difficult for your body to fight infections.

Immunosuppression treatment

Sometimes with MDS, white blood cells called T lymphocytes affect normal blood cell production. Immunosuppressant drugs work by making T lymphocytes less active.

Immunosuppressant drugs called anti thymocyte globulin (ATG) and ciclosporin can sometimes be used to treat a certain type of MDS but this treatment is not suitable for everyone. 

Chemotherapy

Chemotherapy uses cell killing (cytotoxic) drugs to destroy the immature cells. The drugs work by disrupting the growth of cells and stopping them from dividing.

Which chemotherapy you have depends on your type of MDS and your risk group. You could have just one drug or a combination of drugs.

For high risk MDS, you are likely to have chemotherapy similar to that used for acute myeloid leukaemia (AML). The chemotherapy drugs used to treat MDS include:

• cytarabine
• fludarabine (Fludara)
• idarubicin (Zavedos)
• azacitidine (Vidaza)

Intensive treatment with a donor stem cell transplant

When you have a stem cell transplant using another person’s (donor) stem cells, it is called an allogeneic transplant. To have a donor stem cell transplant, you first have to have your own bone marrow cells destroyed. This means having high dose chemotherapy and sometimes total body radiotherapy.

After this treatment you have stem cells from a donor to replace your own bone marrow cells. You have these through a drip into your bloodstream. Usually this is through a central line. The donor is someone whose stem cells match yours. The most suitable donor is usually a close relative such as a brother or sister.

It takes from a few days to a few weeks for the donor stem cells to start making new blood cells. During this time, you will need blood and platelet transfusions. You are at a high risk of developing infections. So, your doctor and nurses will give you antibiotics and anti viral drugs to try to prevent them.

This treatment is very intense and has risks. You can usually only have this if you:

• are younger
• are in reasonably good health, apart from your MDS
• have a suitable donor

You can talk through the benefits and risks of this treatment with your specialist. They will be able to tell you whether this treatment is an option for you.

Lenalidomide

You might have lenalidomide (Revlimid) to control MDS if you have a particular chromosome change called del5q. You take this orally as a capsule. It works in several ways to suppress the MDS cells, including altering the immune system. It is often referred to as a type of immune modulation therapy.

It has mainly been used to treat lower risk MDS.

Research and clinical trials

Doctors want to find out as much as possible about the many different types of MDS, and how best to treat them.

A study team are setting up a record or ‘registry’ of information about a large number of people across Europe with low risk MDS. The aim is for doctors to learn more about MDS and its outcomes.

Doctors are looking at new drugs for MDS. They are also investigating new ways to give older drugs. Some trial teams are looking at combining old and newer cancer drugs for people with MDS.

Drugs being looked at in clinical trials include:

• quizartinib
• azacitidine
• decitabine
• magrolimab
• luspatercept
• MBG453
• BCT-100

Cancer Research UK Clinical Trials Database

You can find a clinical trial looking at myelodysplastic syndromes on our clinical trials database. Click on the ‘recruiting’, ‘closed’ and ‘results’ tabs to make sure you see all the trials.

You need to talk to your specialist if there are any trials that you think you might be able to take part in.

Coping with MDS

We have information about where to find support to help you cope with MDS and having treatment.