Abstract Number: PB0314
Meeting: ISTH 2021 Congress
Background: Thrombosis is a leading cause of morbidity and mortality in patients with Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), particularly polycythemia vera (PV) and essential thrombocythemia (ET). The acquired point mutation in the pseudokinase domain of JAK2 (JAK2V617F) in these disorders is variably associated with thrombosis
Aims: This study was aimed to investigate the incidence of JAK2V617F mutation in BCR-ABL negative patients with MPN and its relation with thrombosis.
Methods: The peripheral blood of patients was collected and the genomic DNA was exacted. Allele-specific polymerase chain reaction (AS-PCR) was used to amplify the exon 12 of JAK2 gene which harbours V617F mutation.
Results: The JAK2V617F mutation was detected in 29 patients out of 37 patients (78.4%) among them 19 (79.2%) with PV and 10 (76.9%) ET patients, respectively.
Thrombocytosis was found both in patients with ET and PV (58.3% and 23.8%, respectively; p=0.04) mainly those who harbors JAK2V617F (26.9%; p=0.03).
Conclusions: Emphasis should be placed on the detection of JAK2 mutation in MPN, since JAK2V617F appears to be a risk-modifying mutation and increase the likelihood of thrombotic events in Tunisian patients mainly ET and PV.
To cite this abstract in AMA style:Frikha R, Kamoun H. Clinical Relevance of JAK2V617F on Patients with Philadelphia-negative Myeloproliferative Neoplasms [abstract]. Res Pract Thromb Haemost. 2021; 5 (Suppl 2). https://abstracts.isth.org/abstract/clinical-relevance-of-jak2v617f-on-patients-with-philadelphia-negative-myeloproliferative-neoplasms/. Accessed December 11, 2023.
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