JAK2 mutation

TMEM71 is crucial for cell proliferation in lower-grade glioma and is linked to unfavorable prognosis
Proinflammatory and prothrombotic conditions in JAK2V617F-positive MPN: a case of Lemierre's syndrome in essential thrombocythemia
Distinct epigenetic and transcriptional profiles of Epstein-Barr virus-positive and negative primary CNS lymphomas
Genomic signature for oligometastatic disease in non-small cell lung cancer patients with brain metastases
Durable clinical response to the multidisciplinary management of neurosurgery, radiation and chemoimmunotherapy in a patient with PD-L1/PD-L2/JAK2 (PDJ)-amplified, refractory triple-negative breast cancer
Investigation of cuproptosis regulator-mediated modification patterns and SLC30A7 function in GBM
Late In-Stent Thrombosis After Carotid Artery Stenting for Symptomatic Internal Carotid Artery Stenosis in a Patient With JAK2 V617F-Positive Essential Thrombocythemia: An Illustrative Case Report
Isolated cerebellar infarction in a case of JAK 2 mutation-negative polycythemia vera: A case report

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 ¹⁾.

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Mahjoub S, Baccouche H, Sahnoun M, Kaabi H, Manai Z, Slama H, Ben Romdhane N. La mutation JAK2 dans les syndromes myéloprolifératifs BCR-ABL négatifs: facteur prédictif de thrombose [The JAK2 mutation in myeloproliferative disorders: A predictive factor of thrombosis]. Tunis Med. 2015 Jul;93(7):474-7. French. PMID: 26757507.