Diagnosis often starts when someone sees their doctor for symptoms, such as fatigue, bleeding problems, difficulty breathing, or persistent infections. For others, abnormal test results during routine physical exams may prompt an investigation into blood disorders like MDS.

If you are having symptoms and your doctor suspects a blood disorder, blood tests will help identify any abnormalities in the development or numbers of blood cells. Blood tests can include:

  • Complete blood count—Measures the number of red blood cells, white blood cells, and platelets. Low numbers of healthy blood cells or high numbers of blasts (immature cells) in the bone marrow may indicate the presence of MDS.
  • Blood smear—Examines a drop of blood under a microscope to look for abnormalities of the blood cells. Abnormalities include cell counts and genetic markers that may be present or missing.
  • Tests to evaluate the blood for folate, vitamin B12, iron, or thyroid-stimulating hormone to rule out other diseases.
  • Flow cytometry and cell marker tests to examine cells for specific characteristics, like proteins. This may be useful if diagnosis is difficult.

The findings from the blood tests can suggest MDS, but a bone marrow test is usually done to confirm the diagnosis.

A bone marrow aspiration removes a sample of bone marrow from the bone. In most cases, the sample is taken from the hipbone. A needle is inserted through the bone and the marrow is removed with a syringe. A piece of bone may also be removed for biopsy.

Both marrow and bone sample will be examined under a microscope to look for the presence of abnormal blood cells (cancer).

If MDS is confirmed, the results of the biopsy and new tests will help determine the classification of cancer. This will help to identify characteristics of the cancer. Classification, as well as other information like age and overall health, will help develop the prognosis and treatment plan.

In-depth testing of blood and tissue samples can help identify the type of MDS and any other specific characteristics. Tests may include:

  • Flow cytometry and cell marker tests to examine cells for specific characteristics, like proteins.
  • Immunophenotyping—To identify antigens or markers on cell surfaces. These tests help compare normal cells with cancer cells.
  • Immunocytochemistry—To look for proteins in the bone marrow. It can help determine the differences between blood cancers.
  • Fluorescence in situ hybridization—To test for genetic markers and DNA samples.

Most cancers are staged by the presence of tumors, their size, or if it has spread beyond the primary site. MDS affects the bone marrow, which affects the whole body. Traditional staging is not used for MDS, but the disease can be classified by the appearance of the bone marrow and the blood cells, and whether or not certain characteristics are present or missing.

The International Prognostic Scoring System (IPSS) is used in conjunction with another system, the French-American-British classification, which rates 3 factors:

  • The percentage of blasts in the bone marrow
  • Chromosomal abnormalities
  • Results from blood counts

A score is given for each of the 3 factors. The lower the score the better the prognosis. The scores are added together to get an overall IPSS score. There are 4 categories of IPSS scores:

  • Low risk
  • Intermediate-1 risk
  • Intermediate-2 risk
  • High risk

The WHO Prognositic Scoring System (WPSS) uses 3 factors:

  • Type of MDS based on 8 WHO classifications
  • Chromosome abnormalities
  • If a need exists for transfusions or not

The score determines one of the following 5 groups:

  • Very low risk
  • Low risk
  • Intermediate risk
  • High risk
  • Very high risk