How is MDS Diagnosed?

Diagnosis

To diagnose myelodysplastic syndrome, your doctor will conduct a physical exam, assess your symptoms, and review your medical history. They may then order specific blood and bone marrow tests.

Tests to diagnose MDS may include:

  • Complete blood count (CBC) with differential. This blood test counts the number of red blood cells and platelets, the number and type of white blood cells, and the amount of hemoglobin in the red blood cells.
  • Peripheral blood smear. This blood test will look for changes in the type, number, size, and shape of the blood cells. It can determine if you have too much iron in your red blood cells.
  • Cytogenetic analysis. Your blood or bone marrow will be analyzed for changes in the blood cell chromosomes, including missing, broken, rearranged, or extra chromosomes—potential signs of genetic disease or some forms of cancer.
  • Molecular Genetic analysis. Your blood or bone marrow will be analyzed for changes in specific genes that are associated with MDS
  • Bone marrow aspiration and biopsy. A fine, hollow needle is inserted into the hip bone or breastbone to draw out a sample of bone marrow, blood, and a piece of bone. The sample is examined under a microscope.

How is MDS Treated?

Treatments

Treatment options will be tailored to the individual, including bone marrow transplants, blood transfusions, and specific medications.

Bone marrow transplant

A bone marrow transplant (or stem cell transplant) is currently the only treatment option that may cure MDS for some people. The procedure presents a high risk of developing serious complications. A bone marrow transplant is typically only performed on those healthy enough to endure it.

A bone marrow transplant usually involves a high dose of chemotherapy drugs to clear out unhealthy cells. Healthy donor stem cells are then transfused through a vein into the body to replace the unhealthy ones.

Blood transfusions

Blood transfusions involve using healthy donor blood cells to replace unhealthy platelets and red blood cells. Blood transfusions can help with symptoms of MDS.

Medications

Medication is often used to address the symptoms of myelodysplastic syndrome subtypes. The goal of MDS medications can be to:

  • Treat infections. Medication can help with MDS subtypes that cause frequent infections.
  • Increase blood cell production. Medication called growth factors can stimulate bone marrow to produce more red or white blood cells. 
  • Stimulate blood cells to mature. Certain medications can encourage immature blood cells to mature. This may lower the need for blood transfusions and reduce the risk of developing leukemia.
  • Suppress the immune system. Medications that help control the immune system can reduce the need for red blood cell transfusions.
  • Assist people with a genetic abnormality. If your subtype is MDS associated with isolated del (5q), certain medications, such as lenalidomide (Revlimid) can help with the condition.
  • Block cancer cell growth. Hypomethylating agents are types of chemotherapy drugs that can block the DNA that causes cancer cells to grow, assist genes in promoting healthy cell growth, and potentially slow the progression of MDS. Hypomethylating agents include azacitidine, decitabine, or Inqovi, a combination of decitabine and cedazuridine.

These are only some of the medications available to treat Myelodysplastic syndrome. Please consult your doctor for a full list of available treatments.

Clinical trials

NewYork-Presbyterian offers access to promising new therapies through clinical trials, with treatments that are difficult to find elsewhere. Our scientific and clinical research programs are supported by these clinical trials dedicated to people with MDS.

FAQs

FAQs

The MDS subtype is a key factor in determining life expectancy. People with lower-risk types of MDS can live for five years or longer. People with higher-risk MDS that becomes myeloid leukemia (AML) may have a shorter estimated life expectancy—from months to less than five years.

MDS is considered a rare form of blood cancer.

Get Care

Trust NewYork-Presbyterian for MDS Treatment

NewYork-Presbyterian has one of the largest myelodysplastic syndrome treatment programs in the country. Whether your MDS developed as a primary disease or was diagnosed after a previous cancer treatment, our compassionate specialists will provide individualized attention to help manage MDS symptoms and create the best treatment plan possible.

The expert cancer care teams at NewYork-Presbyterian are here for you. Reach out to us for an appointment or consultation.