Myeloproliferative Neoplasms

Myeloproliferative neoplasms (MPNs) are a group of rare blood cancers characterized by the bone marrow's overproduction of one or more types of mature blood cells—red blood cells, white blood cells, or platelets—due to acquired mutations in blood-forming stem cells. The main types of MPNs include polycythemia vera (overproduction of red blood cells), essential thrombocythemia (overproduction of platelets), primary myelofibrosis (bone marrow scarring with abnormal blood cell production), and chronic neutrophilic leukemia (overproduction of neutrophils). Many patients have no symptoms initially and are diagnosed through routine blood tests, but as the disease progresses, symptoms may include fatigue, weakness, headaches, dizziness, night sweats, itching (especially after warm baths), enlarged spleen causing abdominal fullness or pain, bleeding complications, blood clots (which can lead to stroke or heart attack), and bone pain. MPNs are caused by genetic mutations in blood stem cells, most commonly mutations in the JAK2 gene (found in most polycythemia vera and about half of essential thrombocythemia and primary myelofibrosis cases), as well as mutations in CALR, MPL, or other genes. Diagnosis requires complete blood count showing elevated blood cells, bone marrow biopsy to assess cell production and detect fibrosis, and genetic testing to identify specific mutations that confirm the diagnosis and help guide treatment. Treatment varies by MPN type and risk level and may include phlebotomy (blood removal to reduce red blood cells), medications to reduce blood cell production (such as hydroxyurea or interferon), low-dose aspirin to prevent blood clots, JAK inhibitors (such as ruxolitinib) to control symptoms and reduce spleen size, and in select cases of high-risk disease, stem cell transplantation. While MPNs are chronic conditions requiring lifelong management and monitoring, many patients live for decades with appropriate treatment, though there is a small risk (5-20% depending on type) of transformation to acute myeloid leukemia over time, making regular follow-up essential.

Myeloproliferative Neoplasms

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