BACKGROUND: It is currently unclear whether or not cerebral venous thrombosis, such as splanchnic venous thrombosis, can be the first manifestation of an underlying myeloproliferative neoplasm. OBJECTIVE: To determine the prevalence of the JAK2 V617F mutation in patients with a first episode of cerebral venous thrombosis. PATIENTS: In this retrospective cohort study, patients with cerebral venous thrombosis were tested for the JAK2 V617F mutation and were followed until the development of a myeloproliferative neoplasm or censored at the end of follow-up. RESULTS: Ten of 152 patients (6.6%) carried the JAK2 V617F mutation. Three of them had known acquired risk factors for thrombosis, and five had thrombophilia. Six patients met the diagnostic criteria for myeloproliferative neoplasm at the time of cerebral venous thrombosis, and three additional patients developed the disease during the follow-up (median duration 7.8 years, range 6 months to 21.3 years), giving an annual incidence of 0.26% patient-years (95% confidence interval 0.05-0.64). The last patient has no evidence of disease after 3 years of follow-up. Patients without the JAK2 V617F mutation at the time of cerebral venous thrombosis were retested at the end of the follow-up and remained negative, with normal blood counts (log-rank test χ(2) : 159 [P<0.0001]). CONCLUSIONS: Cerebral venous thrombosis can be the first symptom of a myeloproliferative neoplasm. Patients with cerebral venous thrombosis can carry the JAK2 V617F mutation, irrespective of blood count.
BACKGROUND: It is currently unclear whether or not cerebral venous thrombosis, such as splanchnic venous thrombosis, can be the first manifestation of an underlying myeloproliferative neoplasm. OBJECTIVE: To determine the prevalence of the JAK2 V617F mutation in patients with a first episode of cerebral venous thrombosis. PATIENTS: In this retrospective cohort study, patients with cerebral venous thrombosis were tested for the JAK2 V617F mutation and were followed until the development of a myeloproliferative neoplasm or censored at the end of follow-up. RESULTS: Ten of 152 patients (6.6%) carried the JAK2 V617F mutation. Three of them had known acquired risk factors for thrombosis, and five had thrombophilia. Six patients met the diagnostic criteria for myeloproliferative neoplasm at the time of cerebral venous thrombosis, and three additional patients developed the disease during the follow-up (median duration 7.8 years, range 6 months to 21.3 years), giving an annual incidence of 0.26% patient-years (95% confidence interval 0.05-0.64). The last patient has no evidence of disease after 3 years of follow-up. Patients without the JAK2 V617F mutation at the time of cerebral venous thrombosis were retested at the end of the follow-up and remained negative, with normal blood counts (log-rank test χ(2) : 159 [P<0.0001]). CONCLUSIONS:Cerebral venous thrombosis can be the first symptom of a myeloproliferative neoplasm. Patients with cerebral venous thrombosis can carry the JAK2 V617F mutation, irrespective of blood count.
Authors: J S Velarde-Félix; J Sanchez-Zazueta; F P Gonzalez-Ibarra; J A González-Valdez; B Salcido-Gómez; E Gallardo-Angulo; J Murillo-Llanes Journal: West Indian Med J Date: 2014-06-10 Impact factor: 0.171
Authors: Ioana Cotlarciuc; Thomas Marjot; Muhammad S Khan; Sini Hiltunen; Elena Haapaniemi; Tiina M Metso; Jukka Putaala; Susanna M Zuurbier; Matthijs C Brouwer; Serena M Passamonti; Paolo Bucciarelli; Emanuela Pappalardo; Tasmin Patel; Paolo Costa; Marina Colombi; Patrícia Canhão; Aleksander Tkach; Rosa Santacroce; Maurizio Margaglione; Giovanni Favuzzi; Elvira Grandone; Donatella Colaizzo; Kostas Spengos; Antonio Arauz; Amanda Hodge; Reina Ditta; Stephanie Debette; Marialuisa Zedde; Guillaume Pare; José M Ferro; Vincent Thijs; Alessandro Pezzini; Jennifer J Majersik; Ida Martinelli; Jonathan M Coutinho; Turgut Tatlisumak; Pankaj Sharma Journal: BMJ Open Date: 2016-11-22 Impact factor: 2.692