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The JAK2V617F mutation may be present several years before the occurrence of overt myeloproliferative disorders

Leukemia volume 22, pages 450–451 (2008)Cite this article

The discovery of the JAK2V617F somatic mutation was a tremendous breakthrough for the understanding of the physiopathology of the myeloproliferative disorders (MPD) and contributed to define more accurately these diseases.1 However, there is no information on the time of appearance of this acquired event and the period needed for the development of the disease, the presence of the mutation being usually tested for a suspected MPD.

The study of 72 families with MPD gave us the opportunity to analyze the presence of the JAK2V617F mutation in relatives considered unaffected at inclusion into the study owing to their normal cell blood counts and the absence of MPD clinical signs or symptoms.2 Among 238 healthy relatives, we found the JAK2V617F mutation in three (two males and one female) of them with an allele burden ranging from 5 to 14% using a sequencing approach. In two of them, endogenous erythroid colonies (EECs) were present and were positive for the JAK2V617F mutation. The analysis of individual EECs collected at inclusion showed a mix of homozygous and heterozygous colonies in both cases. Hematological characteristics at inclusion and follow-up are shown in the Table 1. The increase of JAK2V617F allele burden mutation was associated with the development of a polycythemia vera (PV) and an essential thrombocythemia (ET) in the two former cases. By contrast, no change in level of the JAK2V617F expression was observed in the third case which remains asymptomatic after a follow-up of 6 years. Elsewhere, after a median follow-up of 7 (3.7–10.1) years, no novel case of MPD has been revealed in our cohort, among the other relatives negative for the JAK2V617F mutation at inclusion.

Table 1 Hematological characteristics at inclusion and follow-up
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Authors and Affiliations

  1. Department of Genetics, AP-HP Pitié-Salpétrière, Paris, France

    C Bellanné-Chantelot

  2. Department of Internal Medicine, CHU de Rennes, Rennes, France

    P Jego

  3. Department of Hematology, CH d'Arras, Arras, France

    P Lionne-Huyghe

  4. Department of Hematology, AP-HP Henri Mondor, Creteil, France

    M Tulliez

  5. Department of Hematology, AP-HP Saint-Antoine, Paris, France

    A Najman

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  1. C Bellanné-Chantelot
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on behalf of the French group on myeloproliferative disorders

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Correspondence to C Bellanné-Chantelot.

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Bellanné-Chantelot, C., Jego, P., Lionne-Huyghe, P. et al. The JAK2V617F mutation may be present several years before the occurrence of overt myeloproliferative disorders. Leukemia 22, 450–451 (2008). https://doi.org/10.1038/sj.leu.2404896

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