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Validation of two clinically useful assays for evaluation of JAK2 V617F mutation in chronic myeloproliferative disorders

Leukemia volume 20, pages 168–171 (2006)Cite this article

Recently, a point mutation in the Janus kinase 2 gene (JAK2) was identified in several chronic myeloid disorders, most frequently in polycythemia vera (PV) (65–97%), essential thrombocythemia (ET) (23–57%) and chronic idiopathic myelofibrosis (CIM) (35–57%) (see Table 1). The mutation is 1849G>T, resulting in substitution of phenylalanine for valine (V617F) in the protein. To our knowledge, this mutation has not been reported in normal patients, those with reactive myeloid cell cytoses or those with chronic myelogenous leukemia (CML), but has been found in a small proportion of patients with chronic neutrophilic leukemia, hypereosinophilic syndrome, systemic mast cell disease, mixed chronic myeloproliferative disorder/myelodysplastic syndrome (CMPD/MDS), MDS and AML.1, 2, 3, 4, 5, 6, 7 The mutation has also not been found in precursor B or T acute lymphoblastic leukemia (ALL) or B-cell chronic lymphocytic leukemia.6, 7

Table 1 Summary of clinical sensitivity and specificity results using the two clinical assays and comparison with selected published results
Full size table

Since the common non-CML chronic myeloid disorders are frequently difficult to diagnose due to considerable clinicopathologic overlap with reactive cytoses, a simple clinical assay for JAK2 V617F mutation detection would be quite useful. In the articles published to date, a variety of sample types and detection methods were used, but as described, none seemed ideally suited for a busy clinical laboratory in which cost, equipment availability, assay turn-around-time, sample type and daily sample volumes are of practical importance. We have designed and validated two JAK2 V617F mutation assays that use genomic DNA extracted from 0.5–1 ml of whole blood or bone marrow aspirate specimens and both are suitable for routine clinical laboratory testing.

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Authors and Affiliations

  1. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA

    R McClure & M Mai

  2. Department of Hematology Research, Mayo Clinic, Rochester, Minnesota, USA

    T Lasho

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  1. R McClure
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  2. M Mai
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McClure, R., Mai, M. & Lasho, T. Validation of two clinically useful assays for evaluation of JAK2 V617F mutation in chronic myeloproliferative disorders. Leukemia 20, 168–171 (2006). https://doi.org/10.1038/sj.leu.2404007

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