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How We Diagnose and Treat Myelodysplastic Syndromes (MDS)

  • Diagnosis and treatment for MDS are led by our experienced team in the Adult Leukemia Program at Dana-Farber Brigham Cancer Center.

    How Is MDS Diagnosed?

    The oncologists who lead your care team work closely with hematopathologists (pathologists who specialize in blood disorders) to diagnose your condition and guide your treatment.

    Tests to Diagnose MDS

    A series of tests and procedures may be used to diagnose and understand your MDS. We will review data from prior tests you have had and integrate that into our testing to learn more about your disease and possible treatment options. The diagnostic process may involve:

    • Physical exam and medical history
    • Complete blood count (CBC) with differential: This is a procedure in which a sample of blood is drawn and checked for the following:
      • The number of red blood cells and platelets
      • The number and type of white blood cells
      • The amount of hemoglobin (the protein that carries oxygen) in the red blood cells
      • The portion of the blood sample made up of red blood cells
    • Bone marrow biopsy: If needed, this procedure is done in the office or the hospital room. A clinician uses local anesthetic to numb the posterior iliac crest (back of the hip). A needle is used to obtain a liquid aspirate sample and a small core biopsy sample of the bone marrow. The samples obtained are analyzed by specialized hematopathologists to confirm the diagnosis and conduct various tests to characterize your disease.
    • Next-generation sequencing: Our Rapid Heme Panel uses next-generation sequencing to identify mutations or DNA alterations in 95 genes that are frequently mutated in blood cancers. The Rapid Heme Panel is one of the most comprehensive, swiftest blood cancer mutation tests available today. This test was developed at Dana-Farber Brigham Cancer Center and is available only to our patients. It provides results in a matter of days, enabling us to make treatment decisions quickly.
    • Referral to genetics: All newly-diagnosed MDS patients are offered a referral to our genetics program to be evaluated for any inherited mutations that may have contributed to the development of MDS. If inherited mutations are identified, testing of siblings and children is offered.

    These tests provide valuable information about your disease and how likely it is to progress to AML. We use this information to form your treatment plan and identify potential clinical trials.

    How Is MDS Treated?

    Patients with MDS are cared for by an experienced team in the Adult Leukemia Program. Our specialists care for a large number of MDS patients and use their deep expertise to develop treatment plans for each individual patient.

    When we meet with patients, we:

    • Review your medical history and prior tests.
    • Determine if additional tests are needed. This may include a bone marrow biopsy and next-generation sequencing to help us better understand your specific disease and DNA changes, so that we can develop the best possible treatment plan.
    • Explain treatment options.
    • Discuss available clinical trial options that could be part of your treatment plan.
    • Discuss possible referral to our stem cell transplant colleagues if an evaluation for stem cell transplant is appropriate.

    You receive world-class care from a team of specialists with expertise in caring for patients with MDS. Your care team will include a medical oncologist, nurse practitioner or physician assistant, infusion nurse, clinical social worker, hematopathologist, pharmacist, and others. You may also meet with our stem cell/bone marrow transplant team if stem cell/bone marrow transplant is being considered as part of your care. Close collaboration with our transplant colleagues ensures early evaluation and a smooth and fast transition to transplant when needed.

    We view every patient as an individual, with unique needs and expectations. We involve you and your family at each step of the treatment process. As you go through treatment, you and your family will have access to a wide range of support resources — from nutrition services to integrative therapies, and much more.

    Treatment Options for MDS

    Treatment for MDS may include chemotherapy, targeted therapy with novel agents, supportive care, and/or stem cell/bone marrow transplant. The goals of treatment are to:

    • Increase the number of healthy blood cells you produce
    • Reduce the need for blood transfusions
    • Reduce the risk for other MDS complications, such as bleeding or infection
    • Reduce the risk of progression to AML

    Our team has extensive experience developing care plans with standard and novel therapies to ensure the best possible outcomes. Your treatment plan may depend on:

    • Your age and overall health
    • Your disease characteristics and presence of certain mutations
    • Your risk of progressing from MDS to AML
    • Your specific wishes, goals, and values

    Our team will work closely with you to discuss your treatment options, including possible clinical trials, and determine the best approach for you:

    • Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells by either eliminating the cells or stopping them from dividing. Common chemotherapy drugs for MDS include azacitidine and decitabine.
    • Novel agents are often targeted drugs or other substances that identify and attack specific cancer cells without harming normal cells. Luspatercept is an example of a novel agent used for MDS.
    • Immunomodulating drugs such as lenalidomide is often used for patients with low-grade MDS, and is especially effective in patients who have MDS-del(5q), where a piece of chromosome 5 is missing in MDS cells.
    • Supportive care includes transfusions of blood products to address low blood cell counts that MDS patients experience. Some patients may also receive growth factor injections to help the bone marrow make new blood cells.

    Stem Cell Transplant for MDS

    For some patients with MDS, allogeneic stem cell/bone marrow transplant can be an effective treatment. Our stem cell/bone marrow transplant program has expertise in evaluating and treating MDS patients with stem cell/bone marrow transplant. As one of the largest programs in the world, we have performed more than 10,600 transplants since our program's founding. This includes nearly 750 transplants for MDS patients.

    Our stem cell transplant experts have led the studies that set the standard for using stem cell/bone marrow transplant for MDS:

    • Together with colleagues, Corey Cutler, MD, MPH, FRCPC, led the BMT CTN 1102 study, which found that MDS patients who undergo reduced-intensity stem cell transplant with a suitable donor achieve better outcomes than MDS patients who do not have a suitable stem cell donor and therefore receive drug therapy alone. This supports the important practice of early referral for transplant evaluation. Our MDS specialists collaborate closely with our transplant physicians to ensure smooth and early referrals to begin the evaluation and donor search process, if appropriate.

  • Clinical Trials for MDS

    When you meet with your team, we will review our available clinical trials to determine if one may be an option for you. We will discuss with you the specific risks and benefits of both standard of care and clinical trial options. If you decide to participate in a trial, you may undergo additional tests required for the trial.

    We have several trials for MDS patients available at any time. We encourage you to speak with your care team if you would like to learn more. You can also review our clinical trials database.

    Clinic for Myeloid Malignancies Precursor Conditions

    Research led by Dana-Farber scientists has identified precursor conditions that increase the risk that a person develops a myeloid malignancy such as MDS. These precursor conditions include:

    • Clonal hematopoiesis of indeterminate potential (CHIP)
    • Clonal cytopenia of uncertain significance (CCUS)
    • Idiopathic cytopenia of uncertain significance (ICUS)

    Patients with these conditions are cared for by specialists in our Center for Prevention of Progression. Through regular blood tests, bone marrow biopsies, and active surveillance, we track changes in disease progression over time and work with patients to manage the risk of progression to a blood cancer such as MDS or acute myeloid leukemia. Patients with myeloid malignancies precursor conditions may have the opportunity to participate in clinical trials and research evaluating prevention strategies.

    Improving Care for MDS through Research

    Our physician-scientists lead impactful studies that improve our understanding of MDS and how to treat it. This includes:

    • The role of stem cell/bone marrow transplant in MDS:
      • Corey Cutler, MP, MPH, FRCPC, and his colleagues led a multicenter study that demonstrated that MDS patients who have a suitable stem cell donor and can receive a reduced-intensity stem cell transplant achieve better outcomes than patients who do not have an appropriate donor and receive supportive care.
      • Coleman Lindsley, MD, PhD, and Benjamin Ebert, MD, PhD, have studied the genetic patterns of MDS patients who receive stem cell/bone marrow transplant to evaluate the patterns that lead to better outcomes.
    • How the targeted therapy lenalidomide affects patients with the 5q deletion MDS subtype:
      • Work by Benjamin Ebert, MD, PhD, and colleagues demonstrated how lenalidomide acts as a protein degrader, and that this mechanism of action is key for therapeutic effectiveness. This understanding has led to the development of novel drugs for MDS.
    • A leading role in MDS clinical trials:
      • Our team has led many MDS clinical trials, including the multicenter trial that led to the FDA approval of the most commonly used schedule of decitabine for MDS.
      • We continue to pursue new approaches for treating MDS through clinical trials. One novel approach uses the BCL-2 inhibitor venetoclax in MDS treatment.
      • Our program is part of the MDS Clinical Research Consortium, a collaboration of six major cancer centers that shares data and prognostic indicators to improve care for MDS patients.
      • We are developing partnerships with the University of Leipzig in Germany (Dr. Platzbecker) and the European MDS Study Group to establish a Transatlantic Alliance for MDS studies. The mission of this alliance will be to jointly develop international multicenter clinical trials that will advance the care of MDS patients worldwide.
  • Jacqueline Garcia, MD, shares results from the phase 2 study of azacitidine + venetoclax for high-risk MDS and information on the ongoing phase 3 randomized trial of this combination.

  • Through our Edward P. Evans Center for Myelodysplastic Syndromes, our clinicians and scientists continue transformative collaborative research aimed at treating, preventing, and ultimately curing MDS.

    Consultations and Second Opinions for MDS

    Because MDS is relatively uncommon, we believe there is great value in consulting with our team of experienced clinicians. We routinely evaluate specimens sent to us from outside centers. Reasons to consider a consultation or second opinion include:

    • If you have received a diagnosis elsewhere and want to be treated at Dana-Farber Brigham Cancer Center.
    • To learn if you're eligible for a clinical trial
    • To confirm your diagnosis
    • To determine the optimal therapy and timing of treatment
    • To determine if you should consider allogeneic stem cell transplant
    • To learn more about your cancer from specialists who are world leaders in this disease, and who have treated hundreds of other patients like you

    Phone: 617-632-6028 or 617-632-5138
    Online: Complete the Appointment Request Form.

    If you cannot travel to Boston in person, you can take advantage of our Online Second Opinion service.

    For Referring Physicians

    Because you, the referring physician, are an integral part of your patient's care team, we are committed to collaborating with you to provide the best care for your patient.

    If you are a physician and have a patient with diagnosed or suspected MDS, we look forward to working with you. Learn how to refer a patient.