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How We Diagnose and Treat Adult Bone Marrow Failure Syndromes

  • Bone marrow failure is rare, so it is important to be cared for a center with extensive experience caring for bone marrow failure patients and leading research efforts to better understand these conditions and improve treatments.

    For patients diagnosed and treated as children, our close partnership with Dana-Farber/Boston Children's Cancer and Blood Disorder Center supports a smooth transition of care to our adult program as you grow. Dana-Farber Cancer Institute is one of only a few centers in the country to provide this continuum of care from childhood to adulthood for bone marrow failure patients.

    How Is Bone Marrow Failure Diagnosed?

    It is important to get an early and accurate diagnosis of bone marrow failure so you and your care team can develop an effective treatment plan. Our bone marrow failure specialists work closely with hematopathologists (pathologists who specialize in blood disorders) to determine the appropriate testing for an accurate diagnosis. These tests may include:

    • 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
    • Immunologic testing: This is an assessment of a patient's immune system by analyzing the number and function of the patient's immune cells.
    • Bone marrow biopsy: If needed, this procedure is done in the office or the hospital room. A clinician uses a 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.
    • Telomere length testing: We test a blood sample to assess telomere length in different blood cells to identify patients with a telomere biology disorder.
    • Germline testing: We evaluate your blood or skin sample for known or suspected inherited genetic mutations. We may also recommend that your family members have genetic testing to assess their risk of having the same genetic mutation.
    • Next-generation sequencing through the Rapid Heme Panel to identify genetic mutations or alterations.

    How Is Bone Marrow Failure Treated?

    There is no one-size-fits-all treatment for bone marrow failure. Treatment is personalized based on each patient's diagnosis, risk profile, and medical history. The goals of treatment for bone marrow failure patients are to:

    • Support the patient's blood counts through transfusions and other treatments
    • Prevent progression to an aggressive blood cancer, such as MDS or AML
    • Manage the impact of inherited bone marrow failure disorders on other organs

    You will be cared for by a team of specialists experienced in caring for adults with bone marrow failure. Your care team will include a hematologist-oncologist, nurse practitioner or physician assistant, social worker, and nutritionist, among others. Our program also partners with our Cancer Genetics and Prevention Program, so you can meet with genetic counselors to understand if there is an inherited risk for you and your family members.

    Since bone marrow failure can affect various organs in your body, your care team may also involve experts in pulmonology, gastroenterology, gynecology, cardiology, endocrinology, and more from our partner, Brigham and Women's Hospital. These world-class specialists can help address medical complications caused by bone marrow failure. You may also meet with our stem cell/bone marrow transplant team if stem cell/bone marrow transplant is being considered.

    When we meet with you, we will:

    • Review your personal and family medical history
    • Review prior tests and determine if additional testing is needed
    • Conduct germline testing to understand if there is an inherited component of your disease
    • Evaluate treatment options, including clinical trials exploring new treatment approaches

    We may refer you and your family members to meet with our genetic counseling team to better understand the risk for you and your family members.

    Treatment Options for Bone Marrow Failure

    The treatment and management of bone marrow failure is personalized for each patient. Treatment may involve:

    • Active surveillance: Many patients do not require active treatment and will be monitored regularly through blood tests and scans to assess disease progression or complications from bone marrow failure.
    • Supportive care: For some patients, supportive care may involve transfusions of blood products to address low blood cell counts; growth factor injections to help the bone marrow make new blood cells; or drugs to suppress the immune system.
    • Stem cell/bone marrow transplant: If your disease is at high risk for progressing to leukemia or myelodysplastic syndrome, we may recommend a stem cell/bone marrow transplant to provide you with new, healthy blood stem cells that can produce healthy blood cells.

    If your bone marrow failure impacts the other organs' ability to work properly, you may receive care from other specialists to address these complications.

    Our specialists are experts in the full spectrum of care that bone marrow failure patients may need. That means if your bone marrow failure develops into an active blood cancer, you will have the same care team and a seamless transition to treatment for that condition.

    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.

    Consultations and Second Opinions for Bone Marrow Failure

    Because bone marrow failure is 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.
    • If you have been cared for at a pediatric center and want to transition care to a center that specializes in caring for adults with bone marrow failure
    • 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 many patients with bone marrow failure

    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 bone marrow failure, we look forward to working with you. Learn how to refer a patient.

    Research and Clinical Trials for Bone Marrow Failure

    Our physician-scientists lead innovative research to better understand bone marrow failure and improve outcomes for patients. Some areas of focus are:

    • Telomere biology disorders: In the lab, Christopher Reilly, MD, and colleagues are studying telomere dysfunction to identify how telomeres affect the development of blood disorders as well as the impact of short telomeres on response to treatment.
    • Schwachman-Diamond Syndrome (SDS) registry: Together with our pediatric colleagues, we participate in the SDS Registry, which collects and analyzes blood and marrow samples of SDS patients to improve our understanding of SDS and outcomes for patients.
    • Bone Marrow Failure and MDS registry: With our pediatric colleagues and others, this registry collects samples so researchers can better understand and treat bone marrow failure and MDS.
    • Prevention of progression of myeloid precursors: Lachelle D. Weeks, MD, PhD, and colleagues in the Center for Prevention of Progression are studying factors that influence one's risk of developing MDS and AML from early lesions called myeloid precursors.

    Your Care

    A hematologist-oncologist from our Adult Leukemia Program will oversee all aspects of your care.

    All outpatient care is provided at Dana-Farber's Yawkey Center for Cancer Care, one of the most advanced outpatient cancer centers in the country.

    If you need to be hospitalized during your care or if you undergo allogeneic stem cell transplantation, you will be admitted to Brigham and Women's Hospital (BWH) or the Dana-Farber Inpatient Hospital located within BWH. Your primary oncologist and nurse will closely monitor your care and will coordinate your care with the inpatient team and additional specialists, who will address any other symptoms you may be experiencing. This model ensures seamless care from the outpatient to the inpatient setting. Learn more about inpatient care.