Polycythemia vera and essential thrombocythemia: algorithmic approach

Area of Science:

• Hematology
• Oncology

Background:

• Recent advances in understanding genetic abnormalities (JAK2, CALR) and bone marrow features have refined the diagnosis of polycythemia vera (PV) and essential thrombocythemia (ET).
• Epidemiologic studies and clinical trials have led to a reappraisal of diagnostic and therapeutic strategies for these myeloproliferative neoplasms.

Purpose of the Study:

• To outline an algorithm-based approach to the diagnosis, risk stratification, and management of polycythemia vera and essential thrombocythemia.
• To review current therapeutic strategies and unmet needs in the management of these hematologic neoplasms.

Main Methods:

• Review of the revised 2017 WHO classification for PV and ET.
• Analysis of the diagnostic role of bone marrow features and genetic mutations (e.g., JAK2V617F).
• Evaluation of risk-adjusted stratification for therapeutic selection.

Main Results:

• The 2017 WHO classification facilitates early diagnosis and differentiation from other myeloproliferative neoplasms, including prefibrotic myelofibrosis.
• The prognostic significance of mutations, such as JAK2V617F, is increasingly recognized and integrated into risk assessment for ET.
• Risk-stratified therapies, including targeted agents, are employed, but curative options remain unavailable.

Conclusions:

• Despite improved management, polycythemia vera and essential thrombocythemia continue to pose significant morbidity and mortality risks.
• Unmet clinical needs persist, highlighting the ongoing challenge in achieving curative outcomes and mitigating treatment toxicities.