Myelodysplastic Syndrome Treatment

Myelodysplastic syndrome (MDS) is a group of disorders that affect the bone marrow, where red blood cells, white blood cells and platelets are produced. In MDS, the bone marrow does not function properly and produces abnormal, immature cells that do not develop into healthy, fully functioning blood cells. As a result, the patient may have low blood cell counts, a condition known as cytopenia.

MDS is caused by harmful DNA changes in the blood-forming cells of the bone marrow. In many cases, the precise trigger of these mutations is unknown. Risk factors may include advanced age, smoking, prior chemotherapy or radiation therapy and exposure to certain chemicals, such as benzene. The condition is more common in men than women and is usually diagnosed after age 60.

Because myelodysplastic syndrome affects blood cells, symptoms are often related to low blood cell counts, such as:

• Fatigue, weakness, shortness of breath or pale skin (pallor) due to low red blood cells (anemia)
• Frequent infections resulting from low white blood cells (leukopenia)
• Easy bruising or bleeding caused by low platelets (thrombocytopenia)

MDS symptoms can range from mild to severe. In some cases, the condition progresses slowly, while in others, it may evolve into acute myeloid leukemia (AML), a more aggressive blood cancer.

Treatment can vary depending on the MDS subtype and risk category and the patient’s symptoms and overall health. The primary goals are to manage symptoms, improve blood cell counts, slow disease progression and, when possible, achieve long-term remission.

Supportive care for myelodysplastic syndrome

Supportive care is often the foundation of MDS treatment, especially in low-risk cases. This approach aims to relieve symptoms and improve quality of life rather than eliminate the condition.

Supportive care for myelodysplastic syndrome may be appropriate if:

• The condition is progressing slowly
• The symptoms are manageable but require intervention
• The patient is not a candidate for more intensive treatments

Common supportive care interventions include:

• Blood transfusions to increase red blood cells or platelets
• Growth factors, such as erythropoiesis-stimulating agents, to boost red blood cell production
• Antibiotics to treat or help prevent infections

While supportive care for MDS does not address the underlying condition, it still involves certain risks. For example, frequent transfusions can lead to iron overload, which may require additional treatment, while growth factors may cause bone pain or other mild side effects.

Drug therapy for myelodysplastic syndrome

Medication-based treatment may be used to help control intermediate– or high-risk MDS, improve blood cell counts or reduce the need for transfusions. Drug therapy may be appropriate if:

• Blood cell counts are significantly low
• The condition is progressing
• The patient develops transfusion dependence

Medications that may be used to treat myelodysplastic syndrome include:

• Azacitidine – A hypomethylating agent that can help restore normal function to bone marrow cells
• Decitabine – Similar to azacitidine; may be used to slow MDS progression
• Lenalidomide – Often used in patients with a specific chromosomal abnormality (del(5q))

Side effects of drug therapy for myelodysplastic syndrome may include fatigue, nausea and an increased risk of infection, particularly early in treatment. Additionally, many MDS drugs (e.g., azacitidine, decitabine) initially suppress the bone marrow as part of their mechanism, which can temporarily worsen blood cell counts. Over time, however, these therapies can improve bone marrow function and lead to better blood cell counts.

Targeted therapy for myelodysplastic syndrome

Targeted therapy for MDS focuses on the precise genetic mutations or biological pathways that contribute to the development and progression of the condition. As research continues to broaden the understanding of the molecular drivers of myelodysplastic syndrome, these therapies are playing an increasingly important role in individualized treatment planning.

Unlike traditional chemotherapy, which affects cancerous cells as well as healthy cells that naturally divide rapidly, targeted therapies are designed to act on specific abnormalities within cancer cells, potentially enhancing treatment effectiveness while limiting damage to normal cells. This approach may be appropriate if:

• MDS has specific genetic mutations or molecular features
• The condition does not respond to conventional treatments
• The patient has ongoing symptoms, such as anemia, that require active management

Examples of targeted agents for myelodysplastic syndrome include:

• IDH inhibitors – Used for patients with IDH1 or IDH2 mutations, these drugs can block the abnormal enzymes that are contributing to ineffective blood cell production.
• Luspatercept – A medication that helps promote red blood cell maturation, this fusion protein may reduce the need for transfusions in certain patients with anemia.

Side effects of targeted therapy for MDS can vary depending on the specific treatment regimen and patient factors, but may include fatigue, nausea, diarrhea and changes in blood cell counts. Some patients may also experience injection site reactions or other treatment-specific effects, making regular monitoring important to help ensure safety and effectiveness.

Immunotherapy for myelodysplastic syndrome

Immunotherapy for MDS aims to strengthen or modify the body’s immune response so it can better recognize and eliminate abnormal bone marrow cells. While this treatment approach is still under active study, certain immune-based therapies are being used in select cases, particularly those with specific disease characteristics.

Some immunotherapies for myelodysplastic syndrome work by stimulating immune system activity, while others suppress harmful immune responses that may be contributing to bone marrow dysfunction. As such, immunotherapy is a nuanced treatment option that must be tailored to the patient’s individual disease profile.

In general, immunotherapy for MDS may be appropriate if:

• The condition does not respond to standard treatments
• The patient has immune-mediated features that are contributing to bone marrow failure
• The disease is low-risk but associated with specific immune abnormalities
• The patient is eligible to participate in a clinical trial

Examples of immunotherapies for myelodysplastic syndrome include:

• Immune checkpoint inhibitors – Investigational agents that can help the immune system recognize and attack abnormal cells by blocking inhibitory pathways
• Antithymocyte globulin (ATG) – An immunosuppressive therapy that can improve blood cell counts in select patients, particularly those with certain immune-related forms of MDS

Side effects of immunotherapy for myelodysplastic syndrome can vary depending on the specific therapy, but may include fatigue, fever and infusion-related reactions. Because these treatments alter immune system activity, some patients may also experience immune-related complications, such as inflammation affecting the skin, liver, lungs or other organs. Close monitoring is essential to manage these effects and help ensure safe and effective treatment.

Chemotherapy for myelodysplastic syndrome

Chemotherapy may be considered in certain high-risk cases of MDS, particularly when the condition is aggressive. This systemic treatment uses potent medications to destroy abnormal blood-forming cells and may help reduce the number of immature cells (blasts) in the bone marrow.

In some cases, chemotherapy is used to control MDS progression or as a bridge to bone marrow transplantation (BMT). More intensive chemotherapy regimens for myelodysplastic syndrome may be similar to those used for acute myeloid leukemia, especially if MDS is evolving into leukemia.

Chemotherapy for myelodysplastic syndrome may be appropriate if:

• The condition is classified as high-risk or rapidly advancing
• Blast counts are increasing
• MDS is showing signs of progression toward AML
• Less intensive treatments, such as hypomethylating agents, are ineffective
• The patient is a candidate for aggressive therapy or transplant preparation

Common chemotherapy drugs include:

• Cytarabine – A cornerstone chemotherapy agent used in many treatment regimens, cytarabine works by interfering with DNA synthesis, effectively targeting and destroying rapidly dividing cells, such as cancer cells.
• Anthracyclines – Frequently used in combination with cytarabine in more intensive treatment regimens, drugs such as daunorubicin work by damaging the DNA of cancer cells, helping to stop their growth and division.

Because chemotherapy affects both cancerous cells and healthy cells that naturally divide rapidly, it can lead to significant side effects, such as severe fatigue, nausea, vomiting, hair loss and increased risk of infection due to prolonged bone marrow suppression. Some patients may also experience anemia, bleeding complications and extended periods of low blood cell counts, requiring close monitoring and supportive care during treatment.

Bone marrow transplantation for myelodysplastic syndrome

Currently, bone marrow transplantation is the only treatment with the potential to cure MDS. This complex procedure involves replacing diseased bone marrow with healthy blood-forming cells from a compatible donor, potentially allowing the body to resume production of normal blood cells.

Before a bone marrow transplant, the patient will typically receive a course of high-dose chemotherapy, and sometimes radiation therapy, to destroy the abnormal bone marrow cells and prepare the body to accept the donor cells. Once infused, the donor cells will travel to the bone marrow and may begin generating new, healthy blood cells.

Bone marrow transplantation may be considered if:

• The patient has high-risk or advanced MDS
• The condition is progressing or not responding to other treatments
• The patient is in sufficient overall health to tolerate an intensive medical procedure
• A suitable donor match is available

BMT is a highly intensive treatment and carries significant risks. These include serious infections due to prolonged immune system suppression, graft-versus-host disease (GVHD), in which the donor cells inadvertently attack healthy tissues, and complications related to the rigorous conditioning regimen, such as organ toxicity. Recovery can be lengthy and requires close monitoring, but for an appropriate candidate, bone marrow transplantation offers the possibility of long-term remission or cure.

Clinical trials for myelodysplastic syndrome

Clinical trials play a vital role in advancing the understanding and treatment of MDS. These carefully designed research studies focus on evaluating promising new drugs, treatment combinations or innovative therapeutic approaches aimed at improving patient outcomes and quality of life. Clinical trials are particularly important for individuals with high-risk, recurrent or treatment-resistant myelodysplastic syndrome, where standard treatment options may be limited.

Active MDS trials are exploring the development of novel targeted therapies, immunotherapies and next-generation agents to address the underlying biology of the condition. Participation in a clinical trial may offer the patient:

• Access to emerging treatments that are not yet widely available
• Close monitoring and support from a multispecialty healthcare team
• An opportunity to contribute to advancements in MDS treatment and help shape the future standard of care

Eligibility for a clinical trial is determined based on several factors, including the specific subtype, risk category and genetic or molecular features of MDS, as well as the patient’s prior treatments and overall health. The healthcare team can determine whether a clinical trial is an appropriate option and guide the patient through the enrollment process.

Benefit from world-class care at Moffitt Cancer Center

At Moffitt, our patients can receive individualized MDS care from a multispecialty team with extensive experience in treating complex blood and bone marrow disorders. As a National Cancer Institute (NCI)-designated Comprehensive Cancer Center, Moffitt is recognized for excellence in cancer research, innovation and treatment. Our specialists use advanced diagnostic tools and the latest therapies, including those available only through our robust portfolio of clinical trials, to help each patient achieve the best possible outcome and quality of life.

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

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