scholarly journals A case of a patient who suffered from cerebral venous thrombosis 4 times prior to diagnosis of a myeloproliferative neoplasm associated with the JAK2 V617F mutation

Nosotchu ◽  
2021 ◽  
Author(s):  
Tomoyuki Furuta ◽  
Shotaro Horie ◽  
Akisato Nishigaki ◽  
Kei Tachibana ◽  
Kenji Suzuki
Keyword(s):  
Venous Thrombosis ◽  
Cerebral Venous Thrombosis ◽  
Myeloproliferative Neoplasm ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
V617f Mutation

JAK2 (V617F) Mutation and Cerebral Venous Thrombosis,

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 3339-3339
Author(s):  
Ida Martinelli ◽  
Serena Maria Passamonti ◽  
Eugenia Biguzzi ◽  
Franca Franchi ◽  
Francesca Gianniello ◽  
...  
Keyword(s):  
Risk Factors ◽  
Venous Thrombosis ◽  
Whole Blood ◽  
Cerebral Venous Thrombosis ◽  
Conflicts Of Interest ◽  
Myeloproliferative Neoplasm ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
V617f Mutation

Abstract Abstract 3339 Background. Whether or not cerebral venous thrombosis, such as splanchnic venous thrombosis, can be the first manifestation of an underlying myeloproliferative neoplasm is currently unclear. Methods. Patients with cerebral venous thrombosis were tested for the JAK2 (V617F) mutation within one year from the onset of thrombosis 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 5 had thrombophilia. The median duration of follow-up was 7.8 years (6 months to 21.3 years). Six patients met the diagnostic criteria for myeloproliferative neoplasm at the time of cerebral venous thrombosis, while three additional patients developed the disease during the follow-up, for an annual incidence of 0.26% patient-years (95% CI 0.05–0.64). The last patient has no evidence of disease after three years of follow-up. Patients without the JAK2 (V617F) mutation at the time of cerebral venous thrombosis were re-tested at the end of the follow-up and remained negative, with normal whole blood counts [log-rank test c2: 159 (p<0.0001)]. Hence, a myeloproliferative neoplasm was diagnosed in 90% of patients with the JAK2 (V617F) mutation and in none of those without (Fisher's exact test p<0.0001). Conclusions. Cerebral venous thrombosis can be the first symptom of a myeloproliferative neoplasm. Thus, patients with cerebral venous thrombosis should be tested for the JAK2 (V617F) mutation, irrespective of whole blood counts and the presence of other risk factors for thrombosis. Disclosures: No relevant conflicts of interest to declare.

The JAK2 V617F mutation in patients with cerebral venous thrombosis: A rebuttal

2008 ◽  
Vol 99 (06) ◽  
pp. 1121 ◽  
Author(s):  
Elena Rossi ◽  
Tommaso Za ◽  
Patrizia Chiusolo ◽  
Giuseppe Leone ◽  
Valerio Stefano
Keyword(s):  
Venous Thrombosis ◽  
Cerebral Venous Thrombosis ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
V617f Mutation

 

Should We Screen for Janus Kinase 2 V617F Mutation in Cerebral Venous Thrombosis?

2017 ◽  
Vol 44 (3-4) ◽  
pp. 97-104 ◽  
Author(s):  
Matthias Lamy ◽  
Paola Palazzo ◽  
Pierre Agius ◽  
Jean Claude Chomel ◽  
Jonathan Ciron ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Cerebral Venous Thrombosis ◽  
Myeloproliferative Neoplasms ◽  
Jak2 V617f ◽  
Janus Kinase ◽  
Jak2 V617f Mutation ◽  
Janus Kinase 2 ◽  
Jak2 Mutation ◽  
Venous Thromboembolic Events ◽  
V617f Mutation

Background: The presence of Janus Kinase 2 (JAK2) V617F mutation represents a major diagnostic criterion for detecting myeloproliferative neoplasms (MPN) and even in the absence of overt MPN, JAK2 V617F mutation is associated with splanchnic vein thrombosis. However, the actual prevalence and diagnostic value of the JAK2 V617F mutation in patients with cerebral venous thrombosis (CVT) are not known. The aims of this study were to assess the prevalence of JAK2 V617F mutation in a large group of consecutive CVT patients, to detect clinical, biological, and radiological features associated with the mutation, and to determine the long-term venous thrombosis recurrence rate in CVT patients with JAK2 mutation but without overt MPN in order to recommend the best preventive treatment. Methods: This was a prospective study conducted on consecutive patients with a first-ever radiologically confirmed CVT. JAK2 V617F mutation analysis was assessed in all the study subjects. JAK2 V617F-positive patients were followed up to detect new venous thrombotic events. Results: Of the 125 included subjects, 7 were found to have JAK2 V617F mutation (5.6%; 95% CI 2.3-11.2). Older age (p = 0.039) and higher platelet count (p = 0.004) were independently associated with JAK2 V617F positivity in patients without overt MPN. During a mean follow-up period of 59 (SD 46) months, 2 JAK2 V617F-positive patients presented with 4 new venous thromboembolic events. Conclusions: Screening for the JAK2 V617F mutation in CVT patients seems to be useful even in the absence of overt MPN and/or in the presence of other risk factors for CVT because of its relatively high prevalence and the risk of thrombosis recurrence.

scholarly journals The JAK2 V617F mutation in patients with cerebral venous thrombosis

2012 ◽  
Vol 10 (6) ◽  
pp. 998-1003 ◽  
Author(s):  
S. M. PASSAMONTI ◽  
E. BIGUZZI ◽  
M. CAZZOLA ◽  
F. FRANCHI ◽  
F. GIANNIELLO ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Cerebral Venous Thrombosis ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
V617f Mutation

scholarly journals Abdominal venous thrombosis presenting in myeloproliferative neoplasm with JAK2 V617F mutation: a case report

2012 ◽  
Vol 6 (1) ◽  
Author(s):  
Naveen Pemmaraju ◽  
James Peter Hamilton ◽  
Andrew M Cameron ◽  
Stephen Sisson ◽  
Alison R Moliterno
Keyword(s):  
Case Report ◽  
Venous Thrombosis ◽  
Myeloproliferative Neoplasm ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
V617f Mutation

JAK2-V617F mutation in cerebral venous thrombosis

2009 ◽  
Vol 7 (6) ◽  
pp. 1039-1040 ◽  
Author(s):  
K. KOOPMAN ◽  
A. B. MULDER ◽  
J. DE KEYSER ◽  
G. J. LUIJCKX ◽  
J. VAN DER MEER
Keyword(s):  
Venous Thrombosis ◽  
Cerebral Venous Thrombosis ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
V617f Mutation

Concomitant detection of BCR-ABL translocation and JAK2 V617F mutation in five patients with myeloproliferative neoplasm at diagnosis

2012 ◽  
Vol 35 (1) ◽  
pp. e4-e5 ◽  
Author(s):  
M. Cappetta ◽  
V. Pérez ◽  
M. N. Zubillaga ◽  
V. Elizondo ◽  
G. Manrique ◽  
...  
Keyword(s):  
Myeloproliferative Neoplasm ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
V617f Mutation

The Decrease of JAK2 V617F Allele Burden in Leukemia Transformation of An Elderly Patient with Myelofibrosis.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4990-4990
Author(s):  
Su-Jiang Zhang ◽  
Jianyong Li ◽  
Wei Xu
Keyword(s):  
Conflicts Of Interest ◽  
Molecular Genetic ◽  
Myeloproliferative Neoplasm ◽  
Jak2 V617f ◽  
Jak2 V617f Mutation ◽  
Leukemia Cells ◽  
Elderly Aml ◽  
Genetic Abnormalities ◽  
V617f Mutation

Abstract Abstract 4990 Recently there were two different model about clone genesis of acute myeloid leukemia (AML) transformed from pre-existing JAK2 V617F positive myeloproliferative neoplasm (MPN). One model showed the leukemia cells were come from JAK2 V617F negative clone, however, the other indicated that the leukemia cells were still developed from JAK2 V617F positive clone. Here, we report a elderly AML patient who was developed from pre-existing myelofibrosis (MF) with homozygous JAK2 V617F mutation. In leuekmic transformation phase, heterozygous JAK2 V617F mutation was identified, supported the idea that the leukemia cells may be come from JAK2 V617F negative clone. Moreover, no other cytogenetic and molecular genetic abnormalities were further found. After one course of CAG regimen, complete remission was achieved. Further follow-up is still in progress. Disclosures No relevant conflicts of interest to declare.

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