Screening and Diagnosis of MDS

Many patients who come to Mount Sinai for Myelodysplastic Syndrome (MDS) already know they have the disease, and are referred to us because we are highly-trained specialists in treating MDS. Other patients have symptoms typical of MDS, but these symptoms, such as anemia, infections or bleeding, can be caused by other diseases. In each case, we look at a variety of factors to assure an accurate diagnosis.

Other diseases that have symptoms that overlap with MDS include:

  • Leukemia (AML)
  • Aplastic anemia
  • Large granular lymphocytic (LGL) leukemia
  • Autoimmune diseases
  • Myeloproliferative neoplasms

In order rule out these diseases, and in order to gain as much information about the type of MDS the patient may have, testing includes:

  • Blood tests can tell us whether the patient has low red blood cells, white blood cells or platelets. MDS patients may have only one blood line affected or the MDS may cause all blood counts to be low. This information can help determine the type of treatment that is most appropriate for each patient.
  • Bone marrow testing helps us determine whether blood cells are being produced normally or not, and whether there are abnormalities of the way the blood cells are maturing. In MDS patients, there may be an accumulation of abnormal levels of immature blood cells called blasts in the marrow.
  • Genetic or cytogenetic testing examines the chromosomes and genes within the bone marrow. MDS can cause alterations in the chromosomes or genes of the bone marrow cells. These alterations, or mutations, are defects within the stem cells that become blood cells. These mutations lead to structural abnormalities in the chromosomes, the bodies that house the genes in the cell. The genes contain the code that informs the cells how to behave and function. In MDS, these gene mutations lead to cells to grow and function in an abnormal way, leading to low blood counts and accumulation of blast cells that can result in leukemia. The specific way the genes are altered can suggest certain precision therapies to counteract the impaired function.

The combination of blood, marrow, and genetic factors are different in each patient. However, they help us classify patients in groups that have been established by independent medical associations. These classifications allow us to make predictions as to how the disease will behave in a given patient, and prescribe the most effective treatment.

Yet every patient will respond differently. At Mount Sinai, we have a range of treatments available and strive to personalize the treatment for each individual patient.