Myeloproliferative Neoplasms: Diagnosis and Treatment

Myeloproliferative neoplasms are a group of blood cancers in which the bone marrow overproduces one or more types of blood cells, and they encompass conditions such as polycythemia vera, essential thrombocythemia, and myelofibrosis. The discovery that mutations in JAK2 and CALR drive aberrant cell signaling in most patients has transformed how these diseases are diagnosed and classified, and has enabled targeted therapies like ruxolitinib that inhibit the dysregulated JAK pathway to reduce symptoms and spleen enlargement. Despite these advances, predicting which patients will progress to leukemia or require stem cell transplantation remains imprecise, and current prognostic scoring systems continue to be refined as researchers identify additional molecular markers that influence outcomes. A central open question is whether early, sustained suppression of mutant clone burden can alter the natural history of these diseases or merely manage their symptoms.

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Keywords

JAK2 MutationMyelofibrosisPolycythemia VeraThrombocythemiaCALR MutationPrognostic Scoring System