Clinical utility of screening for CALR gene exon 9 mutations in patients with splanchnic venous thrombosis.
نویسندگان
چکیده
Donatella Colaizzo1; Lucio Amitrano2; Maria Anna Guardascione2; Giovanni Favuzzi1; Giovanni Luca Tiscia1; Giovanna D’Andrea3; Rosa Santacroce3; Elvira Grandone1; Maurizio Margaglione3 1Unita’ di Aterosclerosi e Trombosi, I. R. C. C. S. „Casa Sollievo della Sofferenza“, S. Giovanni Rotondo, Italy; 2Divisione di Gastroenterologia, Ospedale “A. Cardarelli”, Napoli, Italy; 3Genetica Medica, Università di Foggia, Italy
منابع مشابه
CALR mutation analysis is not indicated in patients with splanchnic vein thrombosis without evidence of a myeloproliferative neoplasm: a micro-review
Th e recent discovery of exon 9 insertion and/or deletion mutations of the CALR gene in up to 80% of JAK2and MPL-unmutated essential thrombocythemia and primary myelofi brosis patients compels the incorporation of CALR mutational analysis into the molecular diagnostic algorithm for these myeloproliferative neoplasms (MPN). MPN are a major cause of splanchnic vein thrombosis (SVT) which encompas...
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Splanchnic vein thrombosis (SVT) encompasses Budd-Chiari syndrome (BCS), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis. Philadelphia-negative myeloproliferative neoplasms (MPNS) are the leading systemic cause of non-cirrhotic and non-malignant SVT and are diagnosed in 40% of BCS patients and one-third of EHPVO patients. In SVT patients the molecular marker JAK2 V6...
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Venous thrombosis is common in white individuals, affecting 1 out of 1000 individuals every year. The pathogenesis of venous thrombosis is multifactorial, involving acquired and genetic factors. Very recently, the JAK2 V617F mutation, an acquired somatic event occurring in most patients with polycythemia vera and in about half of the patients with essential thrombocythemia or myelofibrosis,1–4 ...
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Myeloproliferative neoplasms (MPNs) are the most common underlying prothrombotic disorder found in patients with splanchnic vein thrombosis (SVT). Clinical risk factors for MPN-associated SVTs include younger age, female sex, concomitant hypercoagulable disorders, and the JAK2 V617F mutation. These risk factors are distinct from those associated with arterial or deep venous thrombosis (DVT) in ...
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ورودعنوان ژورنال:
- Thrombosis and haemostasis
دوره 113 6 شماره
صفحات -
تاریخ انتشار 2015