Plompen, Elisabeth P.C.Valk, Peter J.M.Chu, IsabelMurad, Sarwa D.Plessier, AurélieTuron, FannyTrebicka, JonelPrimignani, MassimoGarcía Pagán, Juan CarlosValla, DominiqueJanssen, Harry L.A.Leebeek, Frank W. G.2017-01-122017-01-122015-060390-6078https://hdl.handle.net/2445/105544Carta a l'editorWe 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 multinational 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 negative patients diagnosed with MPN. We suggest that analysis of CALR mutations should be performed in JAK2V617F negative BCS and PVT patients...3 p.application/pdfeng(c) Ferrata Storti Foundation, 2015Hipertensió portalMalalties del fetgeMutació (Biologia)Síndrome de Budd-ChiariPortal hypertensionLiver diseasesMutation (Biology)Budd–Chiari syndromeSomatic calreticulin mutations in patients with Budd-Chiari syndrome and portal vein thrombosisinfo:eu-repo/semantics/article6509072017-01-12info:eu-repo/semantics/openAccess25682604