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How We Diagnose and Treat Myeloproliferative Neoplasms (MPNs)

  • Diagnosis and treatment for myeloproliferative neoplasms (MPNs) are led by our experienced team in the Adult Leukemia Program at Dana-Farber Brigham Cancer Center. This team includes hematopathologists (pathologists who specialize in blood disorders) and oncologists who have specialized understanding of diagnosing and caring for MPN patients.

    How Are MPNs Diagnosed?

    Because there are different types of MPNs, it is important to get an accurate diagnosis so you can begin the right treatment plan. Our hematopathology team analyzes many MPN cases and has a deep understanding of the different forms of this disease.

    A series of tests and procedures may be used to diagnose and understand your MPN. 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 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.
    • Next-generation sequencing: Our patients have access to a Rapid Heme Panel – a next-generation sequencing test to identify mutations or DNA alterations in 95 genes that are frequently mutated in blood cancers. This test was developed at Dana-Farber Brigham Cancer Center and provides results in a matter of days, which helps inform treatment decisions.

    These tests provide valuable information about your disease and how likely it is to progress to a more aggressive blood cancer. We use this information to develop an individualized treatment plan and identify potential clinical trials.

    How Are MPNs Treated?

    Treatment for MPNs is specific to each individual, the type of MPN they have, and complications they experience. At Dana-Farber Brigham, our team takes an individualized approach that includes a detailed pathology analysis to understand the disease characteristics, and a treatment plan based on risk assessment, disease state, and symptoms. Our specialists care for a large number of MPN patients and use their deep expertise to develop the best treatment plan for each 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.

    An overview of the general treatment approach for the different MPN types is below. At Dana-Farber Brigham, your treatment will be personalized to your disease and needs:

    • Treatment for polycythemia vera and essential thrombocytosis: The main goal in treating polycythemia vera and essential thrombocytosis is to prevent blood clotting (thrombosis) or excessive bleeding, since these complications can increase your risk for heart attack, stroke, and other health issues. Treatment may include medication to prevent clotting (such as aspirin) or to reduce the number of blood cells in the bone marrow (known as cytoreductive therapy). Most patients can manage these disorders for long periods with regular monitoring and treatment.
    • Treatment for myelofibrosis: Myelofibrosis treatment varies based on how aggressive the disease is, and the symptoms or complications the patient experiences:
      • A patient with low-risk myelofibrosis and no symptoms may be monitored without active treatment.
      • Patients with intermediate- and high-risk myelofibrosis who experience symptoms are usually treated with JAK2 inhibitors, medications that aim to stop overproduction of blood cells.
      • Allogeneic stem cell transplantation is also a treatment option for intermediate- and high-risk patients. A stem cell/bone marrow transplant is used when the body cannot make the healthy blood cells it needs because your bone marrow or stem cells have failed, or when the bone marrow or blood cells have become diseased and need to be replaced. Donor blood stem cells are infused into a patient to produce all of the different parts of the blood that both your body and your immune system need. We work closely with our stem cell/bone marrow transplant physicians to ensure easy and early referral if stem cell transplant is being considered as part of a treatment plan.

        Our stem cell/bone marrow transplant program has expertise in evaluating and treating myelofibrosis patients with stem cell/bone marrow transplant. As one of the largest transplant programs in the world, we have performed more than 11,150 transplants since our program's founding.
      • Clinical trials: We may offer patients with myelofibrosis treatment through a clinical trial that is evaluating new therapies for the disorder. Some current approaches use drugs such as the BCL-2 inhibitor navitoclax, to cause cell death through apoptosis. (Trials 17-487 and 20-526)
    • Treatment for MDS/MPN overlap: For patients with MDS/MPN overlap, their condition includes features of both MDS and MPN. Treatment is very individualized based on which condition is more dominant. If the disease has more features of MDS, treatment may include hypomethylating agents. If the disease has more features of MPN, JAK2 inhibitors may be used to control the disease.

    Advancing the Care for MPNs

    Our team is actively involved in clinical research to improve treatments for patients with MPNs. We offer several clinical trials for patients with MPNs.

    Current trials explore the use of drugs that cause cell death (apoptosis) to treat patients with myelofibrosis. Jacqueline Garcia, MD, is leading trials of navitoclax, an oral, small molecule inhibitor targeting BCL-XL/BCL-2, in combination with ruxolitinib for patients with myelofibrosis (17-487, 20-526). Navitoclax has been shown to be effective in initiating cell death in cells that have JAK2 mutations or have been resistant to JAK2 inhibitors.
    Watch Dr. Garcia discuss early trial results of this combination.

    In addition, we collaborate closely with researchers at Brigham and Women's Hospital who are conducting lab research to better understand MPNs. Dr. Ann Mullally's lab studies the biology and treatment of MPNs, including:

    • How CALR mutations induce MPN development
    • Understanding the JAK2 mutation and identifying novel therapeutic targets
    • Understanding what causes some MPNs to advance to more aggressive myeloid malignancies such as acute leukemia
    • Identifying novel biomarkers of myelofibrosis to understand the key mechanisms that drive myelofibrosis

    Consultations and Second Opinions for MPNs

    Because MPNs are 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 confirm your diagnosis.
    • To determine the optimal therapy and timing of treatment.
    • To determine if you should consider allogeneic stem cell transplant.
    • To learn if you're eligible for a clinical trial.
    • 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 a diagnosed or suspected MPN, we look forward to working with you. Learn how to refer a patient.