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, with polycythemia vera, essential thrombocythemia, and myelofibrosis representing the most clinically significant forms. The discovery that mutations in JAK2 and CALR drive aberrant cell signaling in the majority of these patients transformed how the diseases are diagnosed and classified, and led directly to targeted therapies like ruxolitinib, a JAK inhibitor that reduces spleen size and symptom burden but does not reliably alter the disease's underlying course. Researchers are now working to understand why some patients progress to acute leukemia while others remain stable for decades, and how to better stratify risk using prognostic scoring systems that incorporate both genetic and clinical variables. Improving the depth and durability of hematologic responses — and determining which patients benefit from stem cell transplantation — remain central unsolved problems in the field.

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Keywords

JAK2 MutationMyelofibrosisPolycythemia VeraThrombocythemiaCALR MutationPrognostic Scoring System