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Detecting the JAK2 V617F mutation in fresh and ‘historic’ blood and bone marrow

Leukemia volume 21, pages 1599–1602 (2007)Cite this article

The detection of the Janus kinase 2 (JAK2) mutation V617F has become fundamental in the differential diagnosis of myeloproliferative syndromes (MPS). While this mutation is common in bcr/abl translocation-negative (bcr/abl−) MPS, that is, in polycythemia vera (>90% of cases),1 essential thrombocythemia and chronic idiopathic myelofibrosis (50–70% of cases each),1 and occurs in ∼70% of cases of ‘refractory anemia with ringed sideroblasts and thrombocytosis’,2, 3 it is consistently absent in chronic myelogenous leukemia4 and a rare exception in acute myeloid leukemias, chronic myelomonocytic leukemias and myelodysplastic syndromes.5

In spite of numerous investigations addressing the JAK2 genotype in MPS, no study has yet compared the different biological (RNA vs DNA) and technically available materials (native bone marrow/blood aspirates and bone marrow trephines vs ‘historical’ air-dried smears and paraffin-embedded trephines) in relation to the sensitivity of detecting the V617F mutation by PCR and sequencing. The proper choice among the various sources of DNA or RNA might become even more relevant with the advent of specific JAK2 inhibitors and the requirement for retrospective analyses on archival material.

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Authors and Affiliations

  1. Institute of Pathology, University of Würzburg, Würzburg, Germany

    S Gattenlohner, C Peter, M Bonengel & H-K Müller-Hermelink

  2. Department of Internal Medicine II, University of Würzburg, Würzburg, Germany

    H Einsele & R Bargou

  3. Institute of Pathology, University Hospital Mannheim, University of Heidelberg, Mannheim, Germany

    A Marx

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  1. S Gattenlohner
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  2. C Peter
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Correspondence to S Gattenlohner.

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Gattenlohner, S., Peter, C., Bonengel, M. et al. Detecting the JAK2 V617F mutation in fresh and ‘historic’ blood and bone marrow. Leukemia 21, 1599–1602 (2007). https://doi.org/10.1038/sj.leu.2404701

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