Primary Myelofibrosis

Primary myelofibrosis (PMF) is a rare, chronic bone marrow cancer categorized under myeloproliferative neoplasms (MPNs). It occurs when genetic mutations in hematopoietic stem cells drive abnormal cell proliferation, leading to progressive scarring (fibrosis) within the bone marrow, thus disrupting the production of blood cells—red cells, white cells, and platelets. Commonly, mutations in JAK2, CALR, or MPL genes are involved. Symptoms often develop gradually and include fatigue, anemia, fever, night sweats, bone pain, and an enlarged spleen (splenomegaly).

Advanced disease may cause bleeding tendencies, increased risk of infections, and progression to acute leukemia. Diagnosis is made by clinical findings, blood tests, bone marrow biopsy, and genetic studies. Treatment focuses on symptom management and may include JAK inhibitors (like ruxolitinib), anemia-oriented therapies, and, for eligible patients, allogeneic stem cell transplantation, which offers a potential cure. The disease course varies, with some patients remaining stable for years, while others progress rapidly.