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Chronic Myeloproliferative Disorder

Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera

Leukemia volume 21, pages 1960–1963 (2007)Cite this article

Abstract

After accounting for misdiagnosis and treatment effect, allele-specific (AS)-PCR detects the JAK2V617F mutation in >95% of polycythemia vera (PV) patients. Using database inquiry, we identified 6 of a total 220 cases with PV that were JAK2V617F-negative (prevalence=3%). Of these, five cases (∼80%) were found to harbor one of the two JAK2 exon 12 mutations (F537-K539delinsL or N542-E543del) in bone marrow (BM) and/or peripheral blood cells. Similar screening of six additional cases – three each with idiopathic erythrocytosis (IE) or otherwise unexplained erythrocytosis (UE) – did not reveal either JAK2V617F or JAK2 exon 12 mutations. We found JAK2 exon 12 mutations in PV cases to be readily detected by both DNA sequencing and AS-PCR, regardless of whether BM or peripheral blood cells were used as the source for DNA. Although erythroid hyperplasia was the predominant histologic feature on BM examination, megakaryocyte abnormalities and reticulin fibrosis were noted in most PV patients harboring exon 12 mutations. However, similar BM morphologic changes can also be seen in some JAK2V617F-positive PV cases; therefore, distinct genotype–phenotype association cannot be established.

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Authors and Affiliations

  1. Division of Hematology, Mayo Clinic, Rochester, MN, USA

    A Pardanani, T L Lasho, C Finke & A Tefferi

  2. Division of Hematopathology, Mayo Clinic, Rochester, MN, USA

    C A Hanson

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  1. A Pardanani
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  2. T L Lasho
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  3. C Finke
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  4. C A Hanson
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  5. A Tefferi
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Corresponding author

Correspondence to A Tefferi.

Additional information

All authors approved the final draft of the paper. AP and AT conceived the study. AP, CAH and AT wrote the paper. AP, TLL, CF and AT conducted the experiments and/or analyzed the data. CAH provided morphological review of blood and bone marrow.

The authors have no conflict of interest to declare.

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Pardanani, A., Lasho, T., Finke, C. et al. Prevalence and clinicopathologic correlates of JAK2 exon 12 mutations in JAK2V617F-negative polycythemia vera. Leukemia 21, 1960–1963 (2007). https://doi.org/10.1038/sj.leu.2404810

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