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JAK2V617F and calreticulin mutations in recurrent venous thromboembolism: results from the EDITH prospective cohort

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Abstract

Cancer incidence in patients with recurrent unprovoked venous thromboembolism (VTE) is much higher than after a first event, but the incidence of myeloproliferative neoplasms (MPN) in this situation is still unknown. We tested for JAK2V617F and calreticulin mutants, 372 DNA samples of patients treated for (VTR). Among these patients, 10 (2.7%) were carrying JAK2V617F mutation and none of them any of the calreticulin (CALR) mutations. Among the 19 patients who had VTE recurrence under vitamin K antagonists, 4 patients (21.0%) were positive for JAK2V617F. Despite the identification of JAK2V617F mutation, only three patients were diagnosed for MPN despite a median follow-up of 4 years. We showed that the screening for JAK2V617F not CALR mutations should be helpful in this indication especially if recurrence happened under VKA therapy.

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Acknowledgments

The investigators are indebted to all patients who accepted to participate in the study. They also thank L Lecuq and L Gourhant who organized and performed DNA analyses, and Z Alavi for her help in the English proofreading. The authors thank the “Plateforme INCa de Génétique hospitalière des Cancers de Brest” and the “CRB Santé de Brest” (Brest Biological Resources Center/Local tumor tissue biobank BB-0033-00037) for the technical help and for providing samples and clinical data.

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Authors and Affiliations

  1. Centre Hospitalier Universitaire (CHRU) Brest, Institut de Cancéro-Hématologie, Brest, France

    Jean-Christophe Ianotto & Christian Berthou

  2. Institut National de la Santé et de la Recherche Médicale (INSERM), EA-3878 G.E.T.B.O. (Groupe d’Etude de la Thrombose en Bretagne Occidentale), Brest, France

    Jean-Christophe Ianotto, Dominique Mottier & Aurélien Delluc

  3. Centre Hospitalier Universitaire (CHRU) Brest, Laboratoire d’Hématologie, Brest, France

    Aurélie Chauveau & Eric Lippert

  4. Institut National de la Santé et de la Recherche Médicale (INSERM) U1078, Brest, France

    Aurélie Chauveau & Eric Lippert

  5. Centre Hospitalier Universitaire (CHRU) Brest, Département de Médecine Interne et Pneumologie, Brest, France

    Dominique Mottier & Aurélien Delluc

  6. Centre Hospitalier Universitaire (CHU) Angers, Laboratoire d’Hématologie, Angers, France

    Valérie Ugo

Authors
  1. Jean-Christophe Ianotto
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  2. Aurélie Chauveau
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  3. Dominique Mottier
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  4. Valérie Ugo
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  5. Christian Berthou
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  6. Eric Lippert
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  7. Aurélien Delluc
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Corresponding author

Correspondence to Jean-Christophe Ianotto.

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The protocol was approved by our hospital ethics board.

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The authors declare that they have no conflict of interests.

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Informed consent was obtained from all patients for being included in the study.

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Ianotto, JC., Chauveau, A., Mottier, D. et al. JAK2V617F and calreticulin mutations in recurrent venous thromboembolism: results from the EDITH prospective cohort. Ann Hematol 96, 383–386 (2017). https://doi.org/10.1007/s00277-016-2853-1

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  • DOI: https://doi.org/10.1007/s00277-016-2853-1

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