Low prevalence of JAK2 V617F mutation in patients with thrombosis and normal blood counts: a retrospective impact study
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Low prevalence of JAK2 V617F mutation in patients with thrombosis and normal blood counts: a retrospective impact study Michaël Levraut1,2,3 · Laurence Legros1,4 · Charles Drappier1,2 · Marie C. Béné5 · Viviane Queyrel1,2 · Sophie Raynaud1,6 · Nihal Martis1,2,3
© Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract To determine the prevalence of the V617F Janus Kinase 2 (JAK2) mutation in patients with thrombosis without other biological signs of underlying myeloproliferative neoplasm (MPN) and identify associated risk factors for thrombosis. Over a 10-year period, data were collected from patients with thrombotic events and who had also been screened for the V617F JAK2 mutation. Patients with signs of underlying MPN, such as haematocrit levels ≥ 50% and/or platelet counts ≥ 450 × 109/L and/or splanchnic thrombosis were excluded from the study. Of 340 patients fulfilling inclusion criteria, JAK2 mutation was found in 9 (2.65%), the allele burden being at least 2% in 4 (1.1%). Upon follow-up, MPN was diagnosed in the latter 4. Univariate analysis of the whole cohort showed that age (54 ± 15 vs. 64 ± 13, p = 0.027), platelet count (317 ± 111 vs. 255 ± 75, p = 0.017), C-reactive protein level > 5 mg/L (OR 7.29, p = 0.014), and splenomegaly (OR 54.5, p = 0.0002) were significantly associated with JAK2 mutation. There was also a trend for an increased risk of cerebral venous thrombosis (OR 6.54, p = 0.064). Logistic regression confirmed a significant association between splenomegaly and JAK2 mutation (OR 43.15 [95%CI, 3.05–610.95], p = 0.0054). The V617F JAK2 mutation is rarely found in patients with thrombotic events without overt MPN. Splenomegaly, however, is a statistically and clinically relevant indicator of a potential JAK2 mutation in patients with non-splanchnic thrombotic events. Such patients should require further assessment and a close follow-up. Keywords Janus kinase 2 · Myeloproliferative neoplasia · Splenomegaly · Thrombophilia · Thrombosis
Highlights • Systematic testing for JAK2 mutation in unprovoked
thrombosis is controversial
* Nihal Martis [email protected] 1
Université Côte D’Azur, Nice, France
2
Department of Internal Medicine, Nice University Hospital, Nice, France
3
Institut de Pharmacologie Moléculaire Et Cellulaire, Team Non Coding Genome & Lung Disorders, CNRS UMR7275, Valbonne, France
4
Department of Clinical Haematology, Nice University Hospital, Nice, France
5
Haematology Biology, Nantes University Hospital, Nantes, France
6
Department of Haematology, Nice University Hospital, Nice, France
• JAK2 testing in patients without overt biological signs of
myeloproliferative disease is addressed
• The prevalence of JAK2 mutations is less than 3% in such
cases
• Splenomegaly is associated with JAK2 mutation in non-
splanchnic thrombotic events
Introduction Thrombosis is a major cause of morbidity in patients with myeloproliferative neoplasms (MPN) harbouring a mutation in the Janus kinase 2 gene (JAK2) leading to a self-activated V6
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