CLINICAL TRIALS AND OBSERVATIONS The impact of JAK2 and MPL mutations on diagnosis and prognosis of splanchnic vein thrombosis: a report on 241 cases
نویسندگان
چکیده
Jean-Jacques Kiladjian,1 Francisco Cervantes,2 Franck W. G. Leebeek,3 Christophe Marzac,4 Bruno Cassinat,5 Sylvie Chevret,6 Dominique Cazals-Hatem,7 Aurélie Plessier,8 Juan-Carlos Garcia-Pagan,9 Sarwa Darwish Murad,10 Sebastian Raffa,9 Harry L. A. Janssen,10 Claude Gardin,1 Sophie Cereja,1 Carole Tonetti,11 Stéphane Giraudier,11 Bertrand Condat,8 Nicole Casadevall,4,12 Pierre Fenaux,1 and Dominique C. Valla8
منابع مشابه
Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis.
We studied the impact of driver mutations of JAK2, CALR, (calreticulin gene) or MPL on clinical course, leukemic transformation, and survival of patients with primary myelofibrosis (PMF). Of the 617 subjects studied, 399 (64.7%) carried JAK2 (V617F), 140 (22.7%) had a CALR exon 9 indel, 25 (4.0%) carried an MPL (W515) mutation, and 53 (8.6%) had nonmutated JAK2, CALR, and MPL (so-called triple-...
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Sixty-four patients < 20 years of age, investigated for a suspicion of Philadelphianegative myeloproliferative disease (MPD), were retrospectively evaluated to characterize the different forms and to examine the treatments used and longterm outcome. JAK2 mutations, endogenous erythroid colony growth, and clonality were investigated in 51 children. Mutations of thrombopoietin, the thrombopoietin...
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Primary myelofibrosis (PMF) is a rare chronic BCR-ABL1-negative myeloproliferative neoplasm characterized by progressive bone marrow fibrosis, inefficient hematopoiesis, and shortened survival. The clinical manifestations of PMF include splenomegaly, consequent to extramedullary hematopoiesis, pancytopenias, and an array of potentially debilitating constitutional symptoms. The diagnosis is base...
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Myeloproliferative neoplasms (MPNs) are a heterogeneous group of clonal diseases characterized by the excessive and chronic production of mature cells from one or several of the myeloid lineages. Recent advances in the biology of MPNs have greatly facilitated their molecular diagnosis since most patients present with mutation(s) in the JAK2, MPL, or CALR genes. Yet the roles played by these mut...
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Leukocytes contribute to the pathogenesis of thrombosis in essential thrombocythemia (ET) through recently discovered mechanisms of activation and interaction with platelets and endothelial cells. To evaluate whether an increased leukocyte count was associated with thrombosis and whether this effect can be modulated by therapy, we analyzed the clinical course of 439 patients with ET followed at...
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