Diagnostic Approach to Polycythemia Vera: Clinical and Molecular Considerations

Opinion
Video

Panelists discuss how integrating molecular markers—particularly JAK2 V617F allele burden—and clinical features such as symptom burden and thrombotic history inform diagnosis, risk stratification, and monitoring strategies in polycythemia vera to anticipate disease progression and guide personalized treatment.

Summary for Physicians: Current Landscape of Polycythemia Vera—Diagnostics to Disease Progression

The current landscape of polycythemia vera (PV) involves a nuanced approach that integrates both molecular and clinical features for effective diagnosis, prognostication, and treatment planning. Early and accurate diagnosis hinges on recognizing hallmark features such as elevated hematocrit, JAK2 mutations (particularly JAK2 V617F), and bone marrow morphology consistent with panmyelosis.

Key Predictive Markers and Clinical Considerations:

  • Molecular Features: The presence and allele burden of JAK2 V617F remain central to diagnosis and are increasingly used to stratify risk and anticipate progression. Emerging mutations (eg, ASXL1, SRSF2, TET2) may signal a more aggressive disease course or transformation risk to myelofibrosis or acute leukemia.

  • Clinical Indicators: Symptom burden (eg, pruritus, fatigue, splenomegaly), thrombotic history, leukocytosis, and age are vital in assessing prognosis and guiding treatment. Risk stratification commonly incorporates age >60 years and prior thrombosis history for initial therapy decisions.

Disease Progression Patterns:

PV can evolve over time, with a subset of patients progressing to post-PV myelofibrosis or transforming into acute myeloid leukemia. Close monitoring of blood counts, symptom evolution, and molecular changes is essential for early detection of progression.

In summary, a combination of genetic profiling and thorough clinical evaluation is critical for tailoring therapy and improving long-term outcomes in PV patients.

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