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- W2461862020 abstract "We studied the role of the recently identified CALR mutations in 141 patients with Budd-Chiari Syndrome (BCS) or portal vein thrombosis (PVT) in a large multina tional cohort. A CALR mutation was present in one of the 141 patients (0.7%). This patient was previously diagnosed with primary myelofibrosis. This results in CALR positivity in one out of 44 (2.3%) patients with myeloproliferative neoplasm (MPN), and in one of 11 (9.1%) JAK2V617F neg ative patients diagnosed with MPN. We suggest that analy sis of CALR mutations should be performed in JAK2V617F negative BCS and PVT patients. BCS and non-malignant, non-cirrhotic PVT are rare vas cular liver diseases. The etiology of these diseases encom passes both inherited and acquired risk factors, of which MPN are the most common with a prevalence ranging between 20%-50%. 1-3 Detecting presence of MPN in patients with BCS and PVT is important, given the prog nostic and potential therapeutic implications regarding anticoagulant therapy. 4,5 However, diagnosing MPN in patients with BCS and PVT is often difficult as portal hypertension caused by the obstruction of the hepatic veins and/or portal vein can explain splenomegaly, and decreases peripheral blood cell counts through hypersplenism. 6 The discovery of the JAK2V617F mutation has greatly improved the ability to non-invasively detect MPNs in patients with BCS and PVT. 7-9 However, in the absence of the JAK2V617F mutation, diagnosing MPN can still be challenging and a bone marrow biopsy remains required in most patients and may still be inconclusive. 4,10 Recently, exome sequencing resulted in the detection of mutations in CALR in patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF) lacking JAK2V617F and MPL mutations. CALR mutations were present in 67%-88% of these patients. 11,12" @default.
- W2461862020 created "2016-07-22" @default.
- W2461862020 creator A5054880926 @default.
- W2461862020 date "2015-01-01" @default.
- W2461862020 modified "2023-09-27" @default.
- W2461862020 title "Somatic calreticulin mutations in patients with Budd-Chiari syndrome and portal vein thrombosis" @default.
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