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Title: Somatic calreticulin mutations in patients with Budd-Chiari syndrome and portal vein thrombosis
Author: Plompen, Elisabeth P.C.
Valk, Peter J.M.
Chu, Isabel
Murad, Sarwa D.
Plessier, Aurelie
Turon, Fanny
Trebicka, Jonel
Primignani, Massimo
García Pagán, Juan Carlos
Valla, Dominique
Janssen, Harry L.A.
Leebeek, Frank W.G.
Keywords: Hipertensió portal
Malalties del fetge
Mutació (Biologia)
Síndrome de Budd-Chiari
Portal hypertension
Liver diseases
Mutation (Biology)
Budd–Chiari syndrome
Issue Date: Jun-2015
Publisher: Ferrata Storti Foundation
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 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...
Note: Carta a l'editor
Note: Reproducció del document publicat a:
It is part of: Haematologica, 2015, vol. 100, num. 6, p. e226-8
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ISSN: 0390-6078
Appears in Collections:Articles publicats en revistes (Medicina)

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