Clinical significance of V617F mutation of the JAK2 gene in patients with chronic myeloproliferative disorders

Hematology
Ana L BasquieraJuan J García

Abstract

To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chronic myeloproliferative disorders (CMD): polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). Detection of JAK2 V617F mutation by allele specific-PCR. One hundred and three patients with CMD were included in the study. JAK2 V617F distribution was PV 40/45 (89%), ET 30/43 (69%), and IMF 7/15 (47%). In PV and ET patients only, 18 had thrombosis at diagnosis and 12 during follow-up (these were microvascular: 11, venous: 7 and arterial: 12); of these 28/70 (40%) were JAK2pos versus 2/18 (11%) JAK2neg; P=0.02. In a median of 4 years, two patients with PV JAK2pos evolved to myelofibrosis and one patient with PV presented in leukemic transformation (JAK2pos before and after transformation); six patients died: four patients with IMF and two patients with PV. We found an association between JAK2 V617F and thrombotic events in patients with PV and ET.

References

Sep 20, 2002·Blood·James W VardimanRichard D Brunning
Jan 9, 2004·The New England Journal of Medicine·Raffaele LandolfiUNKNOWN European Collaboration on Low-Dose Aspirin in Polycythemia Vera Investigators
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Nov 16, 2006·Blood·Raffaele LandolfiUNKNOWN European Collaboration on Low-Dose Aspirin in Polycythemia Vera (ECLAP)
Jan 16, 2007·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Ronald HoffmanDamiano Rondelli
May 10, 2007·Haematologica·Ana L BasquieraJuan J García
May 26, 2007·Seminars in Thrombosis and Hemostasis·Ayalew Tefferi, Michelle Elliott
Oct 4, 2007·British Journal of Haematology·Linda M ScottAnthony R Green

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Citations

Feb 7, 2012·Genetic Testing and Molecular Biomarkers·Rafael Ramos da SilvaMarcos Andre Cavalcanti Bezerra
Jun 30, 2012·Medicina clínica·Ana Esther Kerguelén FuentesAna Rodriguez de la Rúa
May 12, 2015·International Journal of Laboratory Hematology·L C MacedoJ E L Visentainer
May 3, 2014·Thrombosis Research·Francesco DentaliFrancesco Passamonti
Jan 15, 2014·Journal of Medicinal Chemistry·James D ClarkJean-Baptiste Telliez
Jul 13, 2018·Journal of Leukocyte Biology·Massimo GadinaJohn J O'Shea
Jan 12, 2020·Metabolomics : Official Journal of the Metabolomic Society·Caroline Lo PrestiPascal Mossuz
Dec 21, 2014·Clinical Chemistry and Laboratory Medicine : CCLM·Marco BenatiGian Cesare Guidi
Oct 10, 2020·Expert Opinion on Therapeutic Targets·Lauren M Mathias, William Stohl
Dec 25, 2021·Expert Opinion on Therapeutic Patents·Chengjuan ChenTiantai Zhang

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