Myeloproliferative neoplasms, or MPNs — also called myeloproliferative disorders, or MPDs — are a collection of blood disorders that are believed to be caused by mutations in bone marrow stem cells. These stem cells normally give rise to mature cells found in the blood, such as red blood cells, which carry oxygen, white blood cells, which fight infection, and platelets, which facilitate blood clotting. In MPN, mutations cause the affected stem cells to produce an abnormal number of these cells. More than 200,000 people in the U.S. are estimated to be living with an MPN.
Generally, MPNs are associated with an overproduction of some of the mature blood cell types. Polycythemia vera is an MPN associated with too many red blood cells; essential thrombocythemia refers to the abnormal overproduction of platelets, and chronic myeloid leukemia is generally associated with too many white blood cells.
Many people with these conditions have few, if any, symptoms, but complications can occur, including stroke in patients with poorly controlled disease. MPNs can sometimes transform to leukemia or to myelofibrosis, an MPN that is characterized by excessive scar-type tissue in the bone marrow.
The molecular causes of the majority of MPN cases have been identified — mutations in the genes JAK2 and ABL are found in nearly all patients with polycythemia vera and chronic myeloid leukemia, respectively. This knowledge has led to the development of targeted therapies that shut off the activity of these overactive mutant proteins. In the case of chronic myeloid leukemia, the outlook of patients has been transformed dramatically as a result.
Our Approach to Myeloproliferative Disorders
UCSF is dedicated to delivering the most advanced treatments for myeloproliferative disorders with care and compassion. There are several types of myeloproliferative disorders, and the best therapy depends on the type and the patient's symptoms. In general, the goal of treatment is to bring the blood cells back to normal levels. Patients who aren't experiencing symptoms may not need immediate treatment but require careful monitoring.
We are also dedicated to discovering better treatments for myeloproliferative disorders through research. Interested patients may have the option to participate in clinical trials of potential new therapies.
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UCSF Health medical specialists have reviewed this information. It is for educational purposes only and is not intended to replace the advice of your doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your provider.