title: JAK2V617F and calreticulin mutations in recurrent venous thromboembolism: results from the EDITH prospective cohort.
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.
authors.affiliation: Centre Hospitalier Universitaire (CHRU) Brest, Institut de Cancéro-Hématologie, Brest, France. jean-christophe.ianotto@chu-brest.fr.|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@chu-brest.fr.
authors.forename: Jean-Christophe
authors.identifier: http://orcid.org/0000-0001-9074-7287
authors.initials: JC
authors.lastname: Ianotto
authors.affiliation: Centre Hospitalier Universitaire (CHRU) Brest, Laboratoire d'Hématologie, Brest, France.|Institut National de la Santé et de la Recherche Médicale (INSERM) U1078, Brest, France.
authors.forename: Aurélie
authors.initials: A
authors.lastname: Chauveau
authors.affiliation: 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.|Centre Hospitalier Universitaire (CHRU) Brest, Département de Médecine Interne et Pneumologie, Brest, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Mottier
authors.affiliation: Centre Hospitalier Universitaire (CHU) Angers, Laboratoire d'Hématologie, Angers, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Ugo
authors.affiliation: Centre Hospitalier Universitaire (CHRU) Brest, Institut de Cancéro-Hématologie, Brest, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Berthou
authors.affiliation: Centre Hospitalier Universitaire (CHRU) Brest, Laboratoire d'Hématologie, Brest, France.|Institut National de la Santé et de la Recherche Médicale (INSERM) U1078, Brest, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Lippert
authors.affiliation: 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.|Centre Hospitalier Universitaire (CHRU) Brest, Département de Médecine Interne et Pneumologie, Brest, France.
authors.forename: Aurélien
authors.initials: A
authors.lastname: Delluc
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D064032:Calbindin 2 / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011446:Prospective Studies; D012008:Recurrence; D054556:Venous Thromboembolism / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C576764:CALB2 protein, human; D064032:Calbindin 2; C507924:JAK2 protein, human; D053614:Janus Kinase 2
keywords: Calreticulin; Deep vein thrombosis; Essential thrombocythemia; JAK2 protein tyrosine kinase; Polycythemia vera