Myelodysplastic syndrome

At Boston Children's Hospital, we know that the first step in treating your child is forming an accurate and complete diagnosis. Your child’s physician may order a number of different tests to determine the type and severity of MDS. 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.

To diagnose MDS, 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 tells us 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. A sample is removed 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 (see next).

• Chromosomal analysis: This test is also called cytogenetic testing. It 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 disorders of the bone marrow and takes an expertise physician and pathologist 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.