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Correlation of JAK2 V617F Mutant Allele Quantitation with Clinical Presentation and Type of Chronic Myeloproliferative Neoplasm

Address correspondence to Jozef Malysz, M.D., Anatomic Pathology, Penn State Milton S. Hershey Medical Center - H 179, 500 University Drive, P.O. Box 850, Hershey, PA 17033-0850, USA; tel 717 531 1676; fax 717 531 7741; e-mail jmalysz{at}hmc.psu.edu.

Activating JAK2 V617F mutation is present in many patients with chronic myeloproliferative neoplasms. We evaluated, retrospectively, clinical and laboratory data from 70 patients with BCR-ABL1 negative, JAK2 positive, chronic myeloproliferative disease. Quantity of the JAK2 mutant allele was tested for correlation with the clinical presentation, type of chronic myeloproliferative disease, hemoglobin level, white blood cell and platelet counts, spleen size, and/or cardiovascular complications. RealTime–PCR was used for amplification of DNA from marrow or peripheral blood. Polycythemia vera was more frequently diagnosed among patients with 50% mutational load than among those with <50% mutational load (71% vs 25%; p = 0.003). Patients with 50% mutational load had higher mean white blood cell count (18.6 billion/L vs 11.3 billion/L; p = 0.043). Essential thrombocythemia patients were more likely to have <50% mutational load (48% vs 7%; p = 0.005). Splenomegaly was more frequent in patients with 50% mutational load independent of the diagnosis (89% vs 48%; p = 0.03). Cardiovascular complications were reported in 50% of patients with 50% mutational load vs 21% of patients with <50% mutational load. JAK2 quantitation was highest in polycythemia vera followed by chronic myeloproliferative disease, unclassifiable, and essential thrombocythemia patients. JAK2 quantitation appears important in clinical evaluation. Mutational load appears to be helpful in stratification of patients into subgroups with different frequency of complications. Quantitation of JAK2 mutational load may be useful in evaluating response to therapy.

Keywords: janus kinase 2 (JAK2) mutation V617F, myeloproliferative neoplasms, primary myelofibrosis