MDS: Diagnosis

MDS is diagnosed by a hematologist/oncologist who specializes in blood disorders.

A Complete Blood Count (CBC) gives physicians a profile of the patient’s blood and shows whether the body is making fewer white cells, red cells, platelets or all three.   If the patient is anemic (low red cells), additional tests can help determine if this condition is due to MDS or deficiencies of iron, vitamin B12 or folate. 

Experts may also take a bone marrow biopsy.

After numbing the area—usually the back of the hip—a physician inserts a needle into the bone to extract the marrow cells. This sample is then examined under a microscope to check for the presence of abnormal looking (dysplastic) cells and rule out other types of cancer. 

The World Health Organization has described eight types of MDS, taking into account the changes in the patient’s blood-making process.  These categories reflect the number of myeloblasts, abnormal red blood cell precursors called ringed sideroblasts, and abnormal dysplastic cell types, in the bone marrow, as well as the genetic profile of the bone marrow cells.

  • Refractory Anemia (RA)
  • Refractory Anemia with Ringed Sideroblasts (RARS)
  • Refractory Cytopenia with Unilineage Dysplasia (RCUD)
  • Refractory Cytopenia with Multilineage Dysplasia (RCMD)
  • Refractory Anemia with Excess blasts-1 (RAEB-1)
  • Refractory Anemia with Excess blasts-2 (RAEB-2)
  • Myelodysplastic Syndrome, Unclassified (MDS-U)
  • Myelodysplastic Syndrome associated with the loss or deletion of chromosome 5

With rare exceptions, patients with RARS, RCUD, RCMD, RAEB-1 and those with deletion of chromosome 5 belong to the lower risk category.