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JAK2V617F-positive polycythemia vera and Philadelphia chromosome-positive chronic myeloid leukemia: one patient with two distinct myeloproliferative disorders

Leukemia volume 22, pages 1454–1455 (2008)Cite this article

Polycythemia vera (PV), essential thrombocythemia and myelofibrosis with myeloid metaplasia are myeloproliferative disorders whose diagnosis requires the negativity of BCR–ABL rearrangement. A gain-of-function mutation at codon 617 (V617F) of the janus kinase 2 (JAK2) gene has been discovered in BCR–ABL-negative myeloproliferative disorders.1 Conversely, no JAK2 mutation has been found in Philadelphia (Ph) chromosome-positive chronic myeloid leukemia (CML).2 Nevertheless, some rare cases of patients harboring both a BCR–ABL rearrangement and a JAK2V617F mutation have been reported in the literature, their coexistence appearing during the evolution of the disease.3, 4, 5 Recently, Bornhäuser et al.6 described concurrent JAK2V617F mutation and BCR–ABL translocation in one case of myelofibrosis with myeloid metaplasia at diagnosis. Here, we report concomitant BCR–ABL rearrangement and JAK2V617F mutation at the initial presentation of a CML and a PV in a single patient.

Few cases showing the coexistence in a single patient of a CML with another myeloproliferative disorders have been reported so far.3, 4, 5, 6, 8 Inami et al.5 reported one case of a Ph-positive CML patient who developed a JAK2V617F-positive PV several years after the initial diagnosis of CML, whereas Wahlin et al.8 reported the emergence of Ph-positive CML during the evolution of an essential thrombocythemia treated by hydroxyurea. Besides, Hussein et al.4 reported one case of myelofibrosis with myeloid metaplasia evolving during the treatment by IM of a CML disease with a t(9;22) translocation coexisting with a JAK2V617F mutation. Recently, concurrent JAK2V617F mutation and BCR–ABL rearrangement have been described within committed myeloid progenitors in myelofibrosis with myeloid metaplasia.6 In this case, molecular analysis demonstrated that the JAK2V617F mutation is present in all the myeloid cells, while the BCR–ABL fusion is not detected in erythroid progenitors. These findings support the idea that BCR–ABL is a secondary event, like in the case reported by Bornhäuser et al.6 Similarly, we and others reported some cases with a secondary Ph-chromosome acquired during the course of a myelodysplastic syndrome.9, 10

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Acknowledgements

This work was supported by the Fondation de France (Comité Leucémie) and the North West Cancéropole (Axe Onco-Hématologie).

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Authors and Affiliations

  1. Service d'Hématologie Clinique, Groupe Hospitalier de l'Institut Catholique Lillois (GHICL), Hôpital Saint-Vincent, Lille, France

    N Cambier, T Cazaentre & C Rose

  2. Unité 837, INSERM, Institut de Recherche sur le Cancer de Lille, and North West Cancéropole, Lille, France

    N Cambier, T Cazaentre, C Rose & C Preudhomme

  3. Laboratoire d'Hématologie, Centre de Biologie-Pathologie, CHRU de Lille, Lille, France

    A Renneville, V Soenen, C Cossement, N Grardel & C Preudhomme

  4. Laboratoire d'Hématologie, Assistance Publique-Hôpitaux Paris (AP-HP), Hôpital Henri Mondor and Université Paris XII, Créteil, France

    S Giraudier

  5. Laboratoire de Cytogénétique, Hôpital Jeanne de Flandres, CHRU de Lille, Lille, France

    J-L Laï

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Cambier, N., Renneville, A., Cazaentre, T. et al. JAK2V617F-positive polycythemia vera and Philadelphia chromosome-positive chronic myeloid leukemia: one patient with two distinct myeloproliferative disorders. Leukemia 22, 1454–1455 (2008). https://doi.org/10.1038/sj.leu.2405088

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