Absence of the JAK2 exon 12 mutations in patients with splanchnic venous thrombosis and without overt myeloproliferative neoplasms

Fiorini, Alessia; Chiusolo, Patrizia; Rossi, Elena; Zà, Tommaso; Ritis, Daniela Giovanna De; Ciminello, Angela; Leone, Giuseppe; Stefano, Valerio De

doi:10.1002/ajh.21335

Cited by 28 publications

(20 citation statements)

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“…Thus, this mutation is now recognised as a diagnostic cornerstone [30]. The close relationship between MPN and splanchnic vein thrombosis has been confirmed by the current onethird prevalence of the JAK2 V617F mutation among patients with a BCS and an EHPVO (reviewed in [31,32]) (Tables 1, 2). A bone marrow histologic examination may allow for diagnosis of MPN in some patients without the JAK2 V617F mutation [27].…”

Section: Risk Factorsmentioning

confidence: 93%

“…Patients with splanchnic vein thrombosis that show no additional signs of haematologic disease other than the JAK2 V617F mutation at the time of thrombosis have an overt MPN development rate as high as 52% during follow-up [32]. Somatic mutations of the JAK2 gene other than V617F have been found in a minority of patients with MPN, but not in patients with splanchnic vein thrombosis (reviewed in [31]). The JAK2 V617F mutation is associated with hypercoagulability [33] and carriers are more prone to thrombosis [30].…”

Section: Risk Factorsmentioning

confidence: 99%

“…Reports on the risk factors associated with MVT were mostly anedoctal until recently, when an autopsy series and a population-based study were published [8,9]. The autopsy The per cent values are the rate ranges from single studies [5, 11-13, 25-27, 38] and from revision papers [29,31,32] The per cent values are the rate ranges from single studies [21,[25][26][27][28]34] and from revision papers [29,31,32,35] Intern Emerg Med (2010) 5:487-494 491 study states that abdominal cancer is present in 22% of cases and hepatic cirrhosis is present in 17%. The population-based study shows a marker of thrombophilia in 67% of patients, a local factor (surgery or inflammation) in 25%, cancer in 24%, and oral contraceptive use in 6% of patients.…”

Section: Risk Factorsmentioning

confidence: 99%

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Splanchnic vein thrombosis: clinical presentation, risk factors and treatment

Stefano¹,

Martinelli

2010

Intern Emerg Med

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113

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The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (BCS), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the simultaneous involvement of additional regions is frequent, and clinical presentations and risk factors may be shared. The annual incidence of BCS and isolated mesenteric vein thrombosis is less than one per million individuals, while the incidence of EHPVO is about four per million; autopsy studies, however, suggest higher numbers. Current advances in non-invasive vascular imaging allow for the identification of chronic or asymptomatic forms. Risk factors can be local or systemic. A local precipitating factor is rare in BCS, while it is common in patients with portal vein thrombosis. Chronic myeloproliferative neoplasms (MPN) are the leading systemic cause of splanchnic vein thrombosis, and are diagnosed in half the BCS patients and one-third of the EHPVO patients. The molecular marker JAK2 V617F is detectable in a large majority of patients with overt MPN, and up to 40% of patients without overt MPN. Inherited thrombophilia is present in at least one-third of the patients, and the factor V Leiden or the prothrombin G20210A mutations are the most common mutations found in BCS or EHPVO patients, respectively. Multiple factors are present in approximately one-third of the patients with BCS and two-thirds of the patients with portal vein thrombosis. Immediate anticoagulation with heparin is used to treat patients acutely. Upon clinical deterioration, catheter-directed thrombolysis or transjugular intrahepatic portosystemic shunt is used in conjunction with anticoagulation. Long-term oral anticoagulation with vitamin K-antagonists (VKA) is recommended in all BCS patients, and in the patients with a permanent prothrombotic state associated with an unprovoked EHPVO. In patients with an unprovoked EHPVO and no prothrombotic conditions, or in those with a provoked EHPVO, anticoagulant treatment is recommended for a minimum of 3-6 months.

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Section: Risk Factorsmentioning

confidence: 93%

Section: Risk Factorsmentioning

confidence: 99%

Section: Risk Factorsmentioning

confidence: 99%

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Splanchnic vein thrombosis: clinical presentation, risk factors and treatment

Stefano¹,

Martinelli

2010

Intern Emerg Med

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113

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“…Three studies, including 268 patients, reported on JAK2 exon 12 mutations. 20,28,49 Two studies, including 305 patients, reported on MPL515 mutations. 20,28 Five studies included a healthy control population 21,47,[50][51][52] ; all other studies were essentially retrospective cohort studies.…”

mentioning

confidence: 99%

Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a meta-analysis

Smalberg

Arends

Valla

et al. 2012

Blood

321

246

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“…In these studies JAK2 V617F mutation screening appeared to be a diagnostic tool for masked MPD in 15% and overt MPD according to WHO criteria in 14% [14,15,16,17]. In a recent paper Fiorini et al [18 ]reported that the incidence of JAK2 v617F mutation in 741 cases of SVT was 34%. Moreover, an interesting finding of these studies is the high prevalence of the JAK2 mutation in patients with portal vein thrombosis, whereas the mutation was never found in patients with mesenteric isolated vein thrombosis [19].…”

Section: Discussionmentioning

confidence: 99%

JAK2<sup>V617F</sup>-Positive Latent Essential Thrombocythemia and Splanchnic Vein Thrombosis: The Role of Bone Marrow Biopsy for the Diagnosis of Myeloproliferative Disease

et al. 2009

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Background: Splanchnic vein thrombosis (SVT) is a severe complication of essential thrombocythemia (ET). No clear explanation has been given for the occurrence of thrombosis in this unusual site in patients with ET, but the existence of a specific association between unexplained SVT and the JAK2 mutation has been reported. Methods and Results: The present study describes SVT (portal and splenic vein thrombosis) in a young woman as the first presenting symptom of latent ET. Extensive screening for thrombophilia was negative. Our patient in fact did not fulfill the WHO diagnostic criteria for myeloproliferative disease (MPD), while she had splenomegaly and developed features suggestive of latent ET during follow-up. Conclusions: In these patients with SVT, the detection of JAK2^V617F mutation is diagnostic for masked MPD as could be documented by bone marrow histopathology. The presence of JAK2^V617F mutation should be considered per se a prothrombotic state for cerebral, coronary and peripheral microvascular disturbances and for SVT but not for deep vein thrombosis. Anticoagulation is the treatment of choice for all SVT and proper treatment of the MPD is recommended in patients with SVT associated with the JAK2^V617F mutation.

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Absence of the JAK2 exon 12 mutations in patients with splanchnic venous thrombosis and without overt myeloproliferative neoplasms

Cited by 28 publications

References 18 publications

Splanchnic vein thrombosis: clinical presentation, risk factors and treatment

Splanchnic vein thrombosis: clinical presentation, risk factors and treatment

Myeloproliferative neoplasms in Budd-Chiari syndrome and portal vein thrombosis: a meta-analysis

JAK2<sup>V617F</sup>-Positive Latent Essential Thrombocythemia and Splanchnic Vein Thrombosis: The Role of Bone Marrow Biopsy for the Diagnosis of Myeloproliferative Disease

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