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Diseases & Conditions

Myelodysplastic Syndromes

(Also Called 'MDS', 'Myelodysplastic Syndrome (MDS)')

Myelodysplastic syndromes are a group of diseases in which the bone marrow does not make enough healthy blood cells.

Myelodysplastic syndromes are diseases of the blood and bone marrow. Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A lymphoid stem cell becomes a white blood cell. A myeloid stem cell becomes one of three types of mature blood cells:

  • Red blood cells that carry oxygen and other substances to all tissues of the body.
  • White blood cells that fight infection and disease.
  • Platelets that form blood clots to stop bleeding.

In myelodysplastic syndromes, the blood stem cells do not mature into healthy red blood cells, white blood cells, or platelets. The immature blood cells, called blasts, do not function normally and either die in the bone marrow or soon after they enter the blood. This leaves less room for healthy white blood cells, red blood cells, and platelets to form in the bone marrow. When there are fewer blood cells, infection, anemia, or easy bleeding may occur.

There are several types of myelodysplastic syndromes.

Myelodysplastic syndromes have too few of one or more types of healthy blood cells in the bone marrow or blood. Myelodysplastic syndromes include the following diseases:

  • Refractory anemia.
  • Refractory anemia with ringed sideroblasts.
  • Refractory anemia with excess blasts.
  • Refractory anemia with excess blasts in transformation.
  • Refractory cytopenia with multilineage dysplasia.
  • Myelodysplastic syndrome associated with an isolated del(5q) chromosome abnormality.
  • Unclassifiable myelodysplastic syndrome.
Age and past treatment with chemotherapy or radiation therapy affect the risk of a myelodysplastic syndrome.

Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get a disease; not having risk factors doesn’t mean that you will not get a disease. Talk with your doctor if you think you may be at risk. Risk factors for myelodysplastic syndromes include the following:

  • Being male or white.
  • Being older than 60 years.
  • Past treatment with chemotherapy or radiation therapy.
  • Being exposed to certain chemicals, including tobacco smoke, pesticides, and solvents such as benzene.
  • Being exposed to heavy metals, such as mercury or lead.
Possible signs of a myelodysplastic syndrome include feeling tired and shortness of breath.

Myelodysplastic syndromes often do not cause early symptoms and are sometimes found during a routine blood test. Other conditions may cause the same symptoms. Check with your doctor if you have any of the following problems:

  • Shortness of breath.
  • Weakness or feeling tired.
  • Having skin that is paler than usual.
  • Easy bruising or bleeding.
  • Petechiae (flat, pinpoint spots under the skin caused by bleeding).
  • Fever or frequent infections.
Tests that examine the blood and bone marrow are used to detect (find) and diagnose myelodysplastic syndromes.

The following tests and procedures may be used:

  • Physical exam and history: An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient’s health habits and past illnesses and treatments will also be taken.
  • Complete blood count (CBC) with differential: A procedure in which a sample of blood is drawn and checked for the following:
    • The number of red blood cells and platelets.
    • The number and type of white blood cells.
    • The amount of hemoglobin (the protein that carries oxygen) in the red blood cells.
    • The portion of the blood sample made up of red blood cells
  • Peripheral blood smear: A procedure in which a sample of blood is checked for changes in the number, type, shape, and size of blood cells and for too much iron in the red blood cells.
  • Cytogenetic analysis: A test in which cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes.
  • Bone marrow aspiration and biopsy: The removal of bone marrow, blood, and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow, blood, and bone under a microscope to look for abnormal cells.
Myelodysplastic syndromes are diagnosed based on certain changes in the blood cells and bone marrow.
  • Refractory anemia: There are too few red blood cells in the blood and the patient has anemia. The number of white blood cells and platelets is normal.
  • Refractory anemia with ringed sideroblasts: There are too few red blood cells in the blood and the patient has anemia. The red blood cells have too much iron. The number of white blood cells and platelets is normal.
  • Refractory anemia with excess blasts: There are too few red blood cells in the blood and the patient has anemia. Five percent to 19% of the cells in the bone marrow are blasts and there are a normal number of blasts found in the blood. There also may be changes to the white blood cells and platelets. Refractory anemia with excess blasts may progress to acute myeloid leukemia. See the PDQ Adult Acute Myeloid Leukemia Treatment summary for more information.
  • Refractory anemia with excess blasts in transformation: There are too few red blood cells, white blood cells, and platelets in the blood and the patient has anemia. Twenty percent to 30% of the cells in the bone marrow are blasts and more than 5% of the cells in the blood are blasts. Refractory anemia with excess blasts in transformation is sometimes called acute myeloid leukemia.
  • Refractory cytopenia with multilineage dysplasia: There are too few of at least two types of blood cells. Less than 5% of the cells in the bone marrow are blasts and less than 1% of the cells in the blood are blasts. If red blood cells are affected, they may have extra iron. Refractory cytopenia may progress to acute leukemia.
  • Myelodysplastic syndrome associated with an isolated del(5q) chromosome abnormality: There are too few red blood cells in the blood and the patient has anemia. Less than 5% of the cells in the bone marrow and blood are blasts. There is a specific change in the chromosome.
  • Unclassifiable myelodysplastic syndrome: There are too few of one type of blood cell in the blood. The number of blasts in the bone marrow and blood is normal, and the disease is not one of the other myelodysplastic syndromes.
Certain factors affect prognosis and treatment options.

The prognosis depends on the following:

  • Whether the myelodysplastic syndrome occurred after chemotherapy or radiation therapy for another disease.
  • The number of blast cells in the bone marrow.
  • Whether one or more types of blood cells are affected.
  • Certain changes in the chromosomes.

Treatment options depend on the following:

  • Whether the myelodysplastic syndrome occurred after chemotherapy or radiation therapy for another disease.
  • Whether the myelodysplastic syndrome has progressed after being treated.
  • The age and general health of the patient.

Stages of Myelodysplastic Syndromes

There is no staging system for myelodysplastic syndromes. Treatment is based on whether the disease developed after the patient was exposed to factors that cause myelodysplastic syndrome or whether the disease was previously treated. Myelodysplastic syndromes are grouped for treatment as follows:

De novo myelodysplastic syndromes

De novo myelodysplastic syndromes develop without any known cause.

Secondary myelodysplastic syndromes

Secondary myelodysplastic syndromes develop after the patient was treated with chemotherapy or radiation therapy for other diseases or after being exposed to radiation or certain chemicals that are linked to myelodysplastic syndromes. Secondary myelodysplastic syndromes may be harder to treat than de novo myelodysplastic syndromes.

Previously treated myelodysplastic syndromes

The myelodysplastic syndrome has been treated but has not gotten better.

Treatment Option Overview

There are different types of treatment for patients with myelodysplastic syndromes.

Different types of treatments are available for patients with myelodysplastic syndromes. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with a myelodysplastic syndrome. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.

Treatment for myelodysplastic syndromes aims to relieve symptoms, slow progression, and improve quality of life.

Treatment options for patients with myelodysplastic syndromes range from supportive care that helps relieve symptoms to aggressive treatment that may slow or prevent progression of the disease.

Problems caused by low blood cell counts, such as fatigue and infections, may be treated with transfusions of blood products or the use of growth factors.

Chemotherapy may be used to delay progression of the disease. Other drug therapy may be used to lessen the need for transfusions. Certain patients may benefit from aggressive treatment with chemotherapy followed by stem cell transplant using stem cells from a donor.

Three types of standard treatment are used:
Chemotherapy

In myelodysplastic syndromes, chemotherapy is a treatment that uses drugs to stop the growth of immature blood cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the disease being treated.

Supportive care

Supportive care is given to lessen the problems caused by the disease or its treatment. Supportive care may include the following:

  • Transfusion therapy

    Transfusion therapy (blood transfusion) is a method of giving red blood cells, white blood cells, or platelets to replace blood cells destroyed by disease or treatment. Patients who receive frequent red blood cell transfusions may have their tissues and organs damaged from the buildup of extra iron. Iron chelation therapy is a treatment that uses drugs that attach to the extra iron. The drug and the iron are removed from the body in the urine.

    Platelet transfusions are usually given when the patient is bleeding or is having a procedure that may cause bleeding.

  • Growth factor therapy

    Erythropoietin may be given to increase the number of red blood cells and lessen the effects of anemia. Sometimes granulocyte colony-stimulating factor (G-CSF) is given with erythropoietin to help the treatment work better.

  • Drug therapy

    Deferoxamine may be used to treat the build-up of too much iron in the blood of patients receiving blood transfusions. It is sometimes given with vitamin C.

    Lenalidomide may be used to lessen the need for transfusions in patients who have myelodysplastic syndrome caused by a specific chromosome change.

    Antithymocyte globulin (ATG) may also be used to lessen the need for transfusions in patients with a certain form of myelodysplastic syndrome.

    Antibiotics may be given to fight infections

Chemotherapy with stem cell transplant

Stem cell transplant is a method of giving chemotherapy and replacing blood-forming cells destroyed by the treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of a donor and are frozen for storage. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells.

Patients may want to think about taking part in a clinical trial.

For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the medical research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment.

Many of today's standard treatments for disease are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.

Patients who take part in clinical trials also help improve the way diseases will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.

Patients can enter clinical trials before, during, or after starting their treatment.

Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose disease has not gotten better. There are also clinical trials that test new ways to stop a disease from recurring (coming back) or reduce the side effects of treatment.

Follow-up tests may be needed.

Some of the tests that were done to diagnose the disease may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests.

Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the disease has recurred (come back). These tests are sometimes called follow-up tests or check-ups.

Treatment Options for Myelodysplastic Syndromes

De Novo and Secondary Myelodysplastic Syndromes

Treatment of de novo and secondary myelodysplastic syndromes may include the following:

  • Supportive care with transfusion therapy.
  • High-dose chemotherapy with stem cell transplant using stem cells from a donor.
  • Supportive care with growth factor therapy.
  • Chemotherapy with azacitidine, decitabine, or other anticancer drugs.
  • Supportive care with drug therapy.
  • A clinical trial of a new anticancer drug.
  • A clinical trial of low-dose chemotherapy with stem cell transplant using stem cells from a donor.
  • A clinical trial of a combination of treatments.
  • A clinical trial of growth factor therapy.

Check for U.S. clinical trials from NCI's list of cancer clinical trials that are now accepting patients with de novo myelodysplastic syndromes and secondary myelodysplastic syndromes. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. General information about clinical trials is available from the NCI Web site.

Previously Treated Myelodysplastic Syndromes

Treatment of previously treated myelodysplastic syndromes may include the following:

  • High-dose chemotherapy with stem cell transplant using stem cells from a donor.
  • Chemotherapy with azacitidine or decitabine.
  • Supportive care with transfusion therapy, growth factor therapy, and/or drug therapy.
  • A clinical trial of low-dose chemotherapy with stem cell transplant using stem cells from a donor.
  • A clinical trial of new drug therapy.
  • A clinical trial of a combination of treatments.
  • A clinical trial of growth factor therapy.

Check for U.S. clinical trials from NCI's PDQ Cancer Clinical Trials Registry that are now accepting patients with myelodysplastic syndromes. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. General information about clinical trials is available from the NCI Web site.

For more information from the NCI, please write to this address:

NCI Public Inquiries Office
Suite 3036A
6116 Executive Boulevard, MSC8322
Bethesda, MD 20892-8322

U.S. residents may call the National Cancer Institute's (NCI's) Cancer Information Service toll-free at 1.800.4.CANCER (1.800.422.6237) Monday through Friday from 9:00 a.m. to 4:30 p.m. Deaf and hard-of-hearing callers with TTY equipment may call 1.800.332.8615.

Information about ongoing clinical trials is available from the NCI Web site.

Source: National Institutes of Health; National Cancer Institute

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This information is provided by the Cleveland Clinic and is not intended to replace the medical advice of your doctor or health care provider. Please consult your health care provider for advice about a specific medical condition. This document was last reviewed on: 8/3/2012...#6192