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

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dc.contributor	Universitat de Barcelona
dc.contributor.author	Plompen, Elisabeth P.C.
dc.contributor.author	Valk, Peter J.M.
dc.contributor.author	Chu, Isabel
dc.contributor.author	Murad, Sarwa D.
dc.contributor.author	Plessier, Aurelie
dc.contributor.author	Turon, Fanny
dc.contributor.author	Trebicka, Jonel
dc.contributor.author	Primignani, Massimo
dc.contributor.author	García Pagán, Juan Carlos
dc.contributor.author	Valla, Dominique
dc.contributor.author	Janssen, Harry L.A.
dc.contributor.author	Leebeek, Frank W.G.
dc.date	2017-01-12T17:49:38Z
dc.date	2017-01-12T17:49:38Z
dc.date	2015-06
dc.date	2017-01-12T17:49:38Z
dc.identifier.citation	0390-6078
dc.identifier.citation	650907
dc.identifier.uri	http://hdl.handle.net/2445/105544
dc.format	3 p.
dc.format	application/pdf
dc.language.iso	eng
dc.publisher	Ferrata Storti Foundation
dc.relation	Reproducció del document publicat a: https://doi.org/10.3324/haematol.2014.120857
dc.relation	Haematologica, 2015, vol. 100, num. 6, p. e226-8
dc.relation	https://doi.org/10.3324/haematol.2014.120857
dc.rights	(c) Ferrata Storti Foundation, 2015
dc.rights	info:eu-repo/semantics/openAccess
dc.subject	Hipertensió portal
dc.subject	Malalties del fetge
dc.subject	Mutació (Biologia)
dc.subject	Síndrome de Budd-Chiari
dc.subject	Portal hypertension
dc.subject	Liver diseases
dc.subject	Mutation (Biology)
dc.subject	Budd–Chiari syndrome
dc.title	Somatic calreticulin mutations in patients with Budd-Chiari syndrome and portal vein thrombosis
dc.type	info:eu-repo/semantics/article
dc.type	info:eu-repo/semantics/publishedVersion
dc.description.abstract	Carta a l'editor
dc.description.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...

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