Myelodysplastic Syndrome (MDS) | Diagnosis & Treatment

How is myelodysplastic syndrome diagnosed?

In addition to a complete medical history and physical examination, myelodysplastic syndrome (MDS) can be accurately diagnosed only by a full evaluation of the blood and bone marrow. Your child’s physician may order some or all of the following tests:

  • Complete blood count (CBC): a measurement of size, number and maturity of different blood cells in blood, which indicates if the bone marrow is working properly. If the results are abnormal, a bone marrow test might be indicated.
  • Additional blood tests: may include blood chemistries, evaluation of liver and kidney functions and genetic studies
  • Bone marrow aspiration and biopsy: A bone marrow sample is usually taken from the back of the hipbone by inserting a needle into the hipbone and sucking out some of the liquid part of the marrow with a syringe (a bone marrow aspirate). In addition, a small piece of the spongy bone containing intact marrow may be obtained (a bone marrow biopsy). This procedure is usually done under local anesthesia and some sedation to limit pain or discomfort. The samples will be examined under the microscope by one of our expert pediatric hematopathologists. In most cases, doctors will perform additional special tests on the bone marrow, such as chromosomal analysis.
  • Chromosomal analysis (cytogenetic testing): This test evaluates all of our chromosomes, which carry our genetic information, to detect any abnormalities. The test usually takes about one week. Cytogenetic studies often help to confirm the diagnosis of MDS and can help distinguish it from certain forms of leukemia. This is important to help physicians tailor treatment to the specific disease.

MDS is often more difficult to diagnose than other bone marrow disorders and takes an experienced physician and pathologist who is highly skilled to look at bone marrow specimens of children to make the correct diagnosis. This is particularly true for children. Therefore, the diagnostic process may take time. Occasionally, repeated blood and bone marrow tests are needed to make the diagnosis with certainty.

After we complete all necessary tests, our experts meet to review and discuss what they have learned about your child's condition. Then we will meet with you and your family to discuss the results and outline the best treatment options for MDS.

What are the treatment options for MDS?

Your child’s physician will determine a specific course of treatment based on several factors, including:

  • your child's age, overall health and medical history
  • the type and severity of MDS
  • your child's tolerance for specific medications, procedures or therapies
  • how your child's doctors expects the disease to progress
  • the availability of a suitable stem cell donor 

Treatment of MDS usually begins with supportive care, which helps control and treat the consequences of the disease, but not eradicate it. Children may receive blood transfusions of red cells and platelets to improve symptoms of anemia and to prevent bleeding.Because patients with MDS are at higher risk of developing infections, immediate evaluation by a health care provider for any fevers is critical. Treatment with antibiotics is often necessary and important when a child has a fever.

In almost all instances, MDS in children can be cured only through a bone marrow transplant, also known as a hematopoietic stem cell transplant (HSCT). HSCT uses high doses of chemotherapy or radiation therapy to destroy all the cells in the bone marrow, healthy and diseased ones. Healthy cells from the bone marrow of another person — either a relative (usually a sibling) or an unrelated individual — are given through an infusion to the patient to restore the bone marrow that was previously destroyed by the chemotherapy and/or radiation therapy.

What is the prognosis for a child with MDS?

Your child's prognosis greatly depends on:

  • the specific diagnostic category of MDS, chromosomal abnormalities and the number of blasts in the blood and bone marrow
  • whether the MDS is a primary disorder or secondary to another disease
  • the availability of a suitable bone marrow transplantation donor

As with any serious medical condition, prognosis and long-term survival can vary greatly from child to child. Prompt medical attention and aggressive therapy are important for the best prognosis.

Continuous follow-up care to determine response to treatment, detect recurrent disease and manage late effects of treatment is essential for the child diagnosed with MDS. Side effects of chemotherapy, as well as second malignancies, can occur in survivors of MDS. Frequent examinations by a specialist and laboratory tests (including repeat bone marrow examinations) are most important for a successful management of disease.

What is the long-term outlook for children with MDS?

In about one-third of patients, MDS progresses to acute myelogenous leukemia, usually within months to a few years.

Without a stem cell transplant, the prognosis for MDS is poor. Continuous follow-up care to determine response to treatment, detect recurrent disease and manage late effects of treatment is essential for children diagnosed with MDS. Side effects of chemotherapy, as well as second malignancies, can occur in MDS survivors.