Myelodysplastic Syndrome Causes and Risk Factors

Myelodysplastic syndrome (MDS) is a group of diverse bone marrow disorders in which the bone marrow does not produce enough healthy blood cells. Instead, it creates immature and dysfunctional cells that often fail to function properly and can die earlier than healthy cells. MDS can be a precursor to a more severe blood cancer, such as acute myeloid leukemia (AML).

In the United States, the incidence of myelodysplastic syndrome is approximately 4.5 cases per 100,000 people per year. Treatment can vary based on several factors, including the patient’s age and preferences. Some patients elect to receive high-dose chemotherapy followed by bone marrow transplantation (BMT).

What causes myelodysplastic syndrome?

MDS arises in hematopoietic stem cells in the bone marrow. Essential for the continuous production of healthy blood cells, hematopoietic stem cells can develop into any type of blood cell the body needs, such as a red blood cell to carry oxygen, a white blood cell to fight infection or a platelet to clot the blood.

Myelodysplastic syndrome results from a genetic mutation in a single hematopoietic stem cell. The mutation disrupts the cell’s normal development and function, leading to problems with blood cell production. As a result, the bone marrow produces immature and abnormal cells that often do not fully mature into healthy blood cells; instead, the defective cells die prematurely or accumulate in the bone marrow.

The precise cause of the genetic mutation that leads to MDS is not fully understood. Primary (de novo) myelodysplastic syndrome—which accounts for up to 90% of MDS diagnoses—develops without an identifiable trigger. Secondary myelodysplastic syndrome is associated with cellular DNA damage that may occur during cancer treatment.

What are the risk factors for myelodysplastic syndrome?

MDS is a complex condition associated with several characteristics, behaviors and exposures. While some of these risk factors can be controlled, others cannot.

Myelodysplastic syndrome risk factors that can be controlled

Certain risk factors for MDS can be somewhat controlled or influenced. These include:

• Exposure to harmful chemicals – Benzene, nitro-organic explosives, diesel derivatives, solvents, chemical fertilizers and certain pesticides used in industrial or agricultural settings have been linked to MDS.
• Radiation exposure – High doses of ionizing radiation delivered during cancer treatment can increase the risk of MDS.
• Smoking – Tobacco is a modifiable risk factor for many potentially serious health issues, including MDS and other types of cancer.

Myelodysplastic syndrome risk factors that cannot be managed

Several risk factors for MDS are beyond individual control, including:

• Advanced age – The risk of developing MDS increases significantly over time, especially after age 70.
• Genetics – A family history of MDS or an inherited cancer predisposition syndrome, such as Fanconi anemia, Diamond Blackfan anemia, familial platelet disorder, severe congenital neutropenia or Shwachman-Diamond syndrome, can increase the risk.
• Prior cancer treatment – Individuals who have undergone certain types of high-dose chemotherapy or radiation therapy are at heightened risk for MDS.

Can myelodysplastic syndrome be prevented?

Preventing MDS is challenging due to the complex interplay of genetic and environmental factors that may be involved in its development. Many of these factors are not fully understood or controllable. However, a few protective measures can be taken to help reduce the risk. These include:

• Minimizing exposure to known carcinogens – It is important to closely adhere to all appropriate safety guidelines in occupational settings and avoid unnecessary chemotherapy and radiation therapy.
• Smoking cessation – Quitting tobacco is a well-established cancer prevention strategy.
• Making positive lifestyle choices – Consuming a nutritious diet, exercising regularly and managing stress can promote optimal immune system function and overall good health.
• Having regular medical check-ups – A healthcare professional can aid in the early detection and management of health issues, including potential precursors to MDS.

Benefit from world-class care at Moffitt Cancer Center

Moffitt’s Malignant Hematology Program houses one of the largest myelodysplastic syndrome programs in the world, and we match many patients with active clinical trials. Our scientists and clinicians are continually investigating potential causes of MDS, such as inherited genetic mutations and acquired exposures. Each time we conclusively identify a risk factor, we come one step closer to preventing myelodysplastic syndrome—and finding a cure.

If you would like to learn more about myelodysplastic syndrome causes and risk factors, you can request an appointment with a specialist in our Malignant Hematology Program by calling 1-888-663-3488  or submitting a new patient registration form online. We do not require referrals.