the JaK2 mutation in myeloproliferative neoplasms: a predictive factor of thrombosis

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Published Dec 25, 2015
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Vol. 93 No. 7 (2015): Issue Jul 2015

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Sonia Mahjoub
Héla Baccouche
Mariam Sahnoun
Houda Kaabi
Zeineb Manai
Hmida Slama
Neila Ben Romdhane

Abstract

SUMMARY
Background: BCR-ABL negative myeloproliferative neoplasms (MPN) include polycythemia Vera (PV), essential thrombocythemia (ET) and primitive myelofibrosis (PMF). the JAK2 V617F mutation has been introduced since 2008 as a major diagnostic criterion on the one hand and on the other hand, it would be linked to increased risk of thrombotic complications.
Aim: This study aimed to evaluate the association of JAK2 mutation and thrombotic events in MPN.
Methods: A retrospective study concerning 45 BCR-ABL negative MPN patients (mean age=53 old years, sex ratio=0.8) was conducted.
Results: They were classified as PV (22 patients), ET (17 patients), PMF (3 patients) and atypical MPN (3 patients). The JAK2 mutation was found in 64.4% of patients: 72.7% of PV patients, 47% of ET patients and 66.7% of PMF patients. Thrombotic events were recorded in 11 patients (24.4%). Cerebral arteries and portal vein were the most frequent localizations. The JAK2 mutation was an independent risk factor of thrombotic events.
Conclusion: Consequently, it seems that screening for JAK2 mutation in BCR-ABL negative MPN could play a role in identifying patients at high risk of vascular complications.

Keywords:

Myeloproliferative neoplasms - JAK2 mutation - thrombosis

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