Somatic calreticulin mutations in patients with Budd-Chiari syndrome and portal vein thrombosis

Carta a l'editor 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 wi...

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Bibliographic Details
Published in:Haematologica (Roma) 2015-06, Vol.100 (6), p.e226-e228
Main Authors: Plompen, Elisabeth P C, Valk, Peter J M, Chu, Isabel, Darwish Murad, Sarwa Darwish, Plessier, Aurelie, Turon, Fanny, Trebicka, Jonel, Primignani, Massimo, Garcia-Pagán, Juan Carlos, Valla, Dominique C, Janssen, Harry L A, Leebeek, Frank W G
Format: Article
Language:English
Subjects:
Adult
Budd-Chiari Syndrome - diagnosis
Budd-Chiari Syndrome - genetics
Budd–Chiari syndrome
Calreticulin - genetics
Case-Control Studies
Cohort Studies
Female
Hipertensió portal
Humans
Internationality
Liver diseases
Malalties del fetge
Male
Middle Aged
Mutació (Biologia)
Mutation (Biology)
Mutation - genetics
Online Only
Portal hypertension
Portal Vein - pathology
Prospective Studies
Síndrome de Budd-Chiari
Venous Thrombosis - diagnosis
Venous Thrombosis - genetics
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Summary:Carta a l'editor 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...
ISSN:0390-6078
1592-8721
DOI:10.3324/haematol.2014.120857