[Recurrent deep vein thrombosis and myeloproliferative syndrom: emergence of JAK2 mutation five years after the initial event].
JAK 2 mutation is the molecular event responsible for 95% of polycythemia cases and 50% of thrombocythemia vera and myelofibrosis cases. It can be used as a tool for the diagnosis of myeloproliferative disorders. We report a case illustrating the fact that a negative result does not definitively eliminate the diagnosis. A 40-year old woman, with a medical history of familial deep vein thrombosis, developed thrombosis of the inferior vena cava with extension to the suprahepatic veins and pulmonary embolism. No constitutional or acquired thrombophilia was diagnosed; search for JAK 2 mutation was negative. The patient was treated with fluindione. Five years later, she relapsed with popliteo-femoral and vena cava deep vein thrombosis. The etiological work-up included a PET scan which revealed diffuse uptake in bones and suspected neoplasic bone marrow invasion. Progenitor cell cultures were positive and JAK 2 mutation was confirmed. The bone marrow aspirate had the cytologic appearance of a myeloproliferative disorder. This case illustrates the fact that JAK 2 mutation can be identified several years after onset of a latent myeloproliferative disorder. Cases with a high clinical likelihood should lead to renewed search for this mutation. Secondary discovery of this mutation can be explained by a higher proportion of mutation expressing clones.
Clinique universitaire de médecine vasculaire, CHU de Grenoble, boulevard de la Chantourne, BP 217, 38043 Grenoble cedex 9, France.
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Salort
Clinique universitaire de médecine vasculaire, CHU de Grenoble, boulevard de la Chantourne, BP 217, 38043 Grenoble cedex 9, France. Electronic address: CSeinturier@chu-grenoble.fr.
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Seinturier
Service d'hématologie clinique, CHU de Grenoble, boulevard de la Chantourne, BP 217, 38043 Grenoble cedex 9, France.
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Molina
Clinique universitaire de médecine vasculaire, CHU de Grenoble, boulevard de la Chantourne, BP 217, 38043 Grenoble cedex 9, France.
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Lévèque
Clinique universitaire de médecine vasculaire, CHU de Grenoble, boulevard de la Chantourne, BP 217, 38043 Grenoble cedex 9, France.
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Imbert
Clinique universitaire de médecine vasculaire, CHU de Grenoble, boulevard de la Chantourne, BP 217, 38043 Grenoble cedex 9, France.
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Pernod
D000328:Adult; D000925:Anticoagulants / Q000627:therapeutic use; D001853:Bone Marrow / Q000473:pathology; D004900:Erythroblasts / Q000473:pathology; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008533:Megakaryocytes / Q000473:pathology; D020125:Mutation, Missense; D009196:Myeloproliferative Disorders / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010630:Phenindione / Q000031:analogs & derivatives / Q000627:therapeutic use; D017354:Point Mutation; D011655:Pulmonary Embolism / Q000209:etiology; D012008:Recurrence; D019851:Thrombophilia / Q000201:enzymology / Q000235:genetics; D020246:Venous Thrombosis / Q000209:etiology*; D017085:alpha-Thalassemia / Q000235:genetics
D000925:Anticoagulants; D010630:Phenindione; C507924:JAK2 protein, human; D053614:Janus Kinase 2; C017673:fluindione
Culture de progéniteurs; Culture of progenitor cells; Deep vein thrombosis; Essential thrombocythemia; JAK2 mutation; Maladie de Vaquez; Mutation JAK2; Polycythemia vera; Thrombocytémie essentielle; Thrombose veineuse profonde