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Polycythemia vera — ABIM Board MCQ

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HardHematology/OncologyPolycythemia veraABIM Board

A 57-year-old has headache, aquagenic pruritus, splenomegaly, hemoglobin 19.2 g/dL, leukocytosis and thrombocytosis. Oxygen saturation is normal and erythropoietin is low. Which molecular test is most appropriate?

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Correct answer: A — Test for a JAK2 V617F mutation, followed by exon 12 testing if needed

The best answer is “Test for a JAK2 V617F mutation, followed by exon 12 testing if needed”. The symptoms, panmyelosis and low erythropoietin strongly suggest polycythemia vera. Nearly all cases harbor JAK2 V617F or exon 12 variants. BCR-ABL1 defines chronic myeloid leukemia, while hemoglobin electrophoresis, factor VIII and urine hemosiderin do not establish a clonal erythrocytosis.

Reference: International Consensus Classification of Myeloid Neoplasms: https://pmc.ncbi.nlm.nih.gov/articles/PMC9479031/