Myeloproliferative Neoplasms: Diagnosis and Treatment

Myeloproliferative neoplasms (MPNs) are a group of blood cancers in which bone marrow cells proliferate abnormally, leading to conditions such as polycythemia vera, essential thrombocythemia, and myelofibrosis — diseases that carry serious risks of blood clots, organ damage, and transformation into acute leukemia. The discovery that mutations in JAK2 and CALR drive most cases has reshaped how clinicians diagnose and classify these disorders, and has enabled targeted therapies like ruxolitinib, a JAK inhibitor that can reduce disease burden but does not reliably alter its natural course. Researchers are now working to refine prognostic scoring systems that predict which patients will progress most aggressively, and to identify combination strategies or earlier interventions — including stem cell transplantation — that might achieve deeper, more durable remissions. A central open question is whether targeting the mutant clone early enough can prevent fibrotic progression or leukemic transformation, rather than simply managing symptoms.

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Keywords

JAK2 MutationMyelofibrosisPolycythemia VeraThrombocythemiaCALR MutationPrognostic Scoring System