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Polycythemia vera.

Martin H Ellis1, Tiziano Barbui2, Ayalew Tefferi3

  • 1Hematology Institute and Blood Bank, Meir Medical Center and Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.

Mayo Clinic Proceedings
|March 28, 2026
PubMed
Summary
This summary is machine-generated.

Polycythemia vera (PV) is a myeloproliferative neoplasm driven by JAK2 mutations. Current management focuses on symptom control and preventing thrombosis, with novel therapies under investigation for disease modification.

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Area of Science:

  • Hematology
  • Oncology
  • Molecular Pathology

Background:

  • Polycythemia vera (PV) is a Philadelphia chromosome-negative myeloproliferative neoplasm characterized by JAK2 mutations.
  • It leads to constitutive JAK-STAT pathway activation, causing panmyelosis with erythrocytosis, leukocytosis, and thrombocytosis.
  • Key symptoms include pruritus, headache, dizziness, and fatigue, with thromboembolism as the primary complication.

Purpose of the Study:

  • To provide a comprehensive review of Polycythemia vera, covering its epidemiology, pathophysiology, molecular pathology, and clinical trials.
  • To summarize current diagnostic criteria and risk stratification for thrombosis.
  • To discuss established and emerging therapeutic strategies.

Main Methods:

  • Literature search of PubMed using terms 'polycythemia vera', 'epidemiology', 'pathophysiology', 'molecular pathology', and 'clinical trials' (inception to June 2025).
  • Review of abstracts from American Society of Hematology annual meetings (2023-2024).

Main Results:

  • Diagnosis relies on international criteria including hematocrit, bone marrow morphology, JAK2 mutation status, and low erythropoietin levels.
  • Established treatments include phlebotomy, aspirin, hydroxyurea, ropeginterferon alfa-2b, and ruxolitinib.
  • Novel agents targeting hepcidin and epigenetic modifiers are under investigation.

Conclusions:

  • PV remains incurable, necessitating ongoing research for disease-modifying treatments.
  • Early detection and advanced therapies may improve long-term outcomes.
  • Effective management involves controlling hematocrit, preventing thrombosis, and exploring new therapeutic avenues.