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Identification of gene mutations and fusion genes in patients with Sézary syndrome.

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dc.contributor.author Prasad, Aparna
dc.contributor.author Rabionet, Raquel
dc.contributor.author Espinet Solà, Blanca
dc.contributor.author Zapata Ortiz, Luis, 1985-
dc.contributor.author Puiggros Metje, Anna Maria
dc.contributor.author Melero Vilella, Maria Carme
dc.contributor.author Puig, Anna
dc.contributor.author Sarria-Trujillo, Yaris
dc.contributor.author Ossowski, Stephan
dc.contributor.author Garcia-Muret, Maria P.
dc.contributor.author Estrach, Teresa
dc.contributor.author Servitje, Octavio
dc.contributor.author Lopez-Lerma, Ingrid
dc.contributor.author Gallardo Hernández, Fernando
dc.contributor.author Pujol Vallverdú, Ramon Maria
dc.contributor.author Estivill, Xavier, 1955-
dc.date.accessioned 2016-07-20T09:52:12Z
dc.date.available 2016-07-20T09:52:12Z
dc.date.issued 2016
dc.identifier.citation Prasad A, Rabionet R, Espinet B, Zapata L, Puiggros A, Melero C. et al. Identification of gene Mutations and fusion genes in patients with Sézary syndrome. J Invest Dermatol. 2016 Jul;136(7):1490-9. DOI: 10.1016/j.jid.2016.03.024
dc.identifier.issn 0022-202X
dc.identifier.uri http://hdl.handle.net/10230/27093
dc.description.abstract Sézary syndrome is a leukemic form of cutaneous T-cell lymphoma with an aggressive clinical course. The genetic etiology of the disease is poorly understood, with chromosomal abnormalities and mutations in some genes being involved in the disease. The goal of our study was to understand the genetic basis of the disease by looking for driver gene mutations and fusion genes in 15 erythrodermic patients with circulating Sézary cells, 14 of them fulfilling the diagnostic criteria of Sézary syndrome. We have discovered genes that could be involved in the pathogenesis of Sézary syndrome. Some of the genes that are affected by somatic point mutations include ITPR1, ITPR2, DSC1, RIPK2, IL6, and RAG2, with some of them mutated in more than one patient. We observed several somatic copy number variations shared between patients, including deletions and duplications of large segments of chromosome 17. Genes with potential function in the T-cell receptor signaling pathway and tumorigenesis were disrupted in Sézary syndrome patients, for example, CBLB, RASA2, BCL7C, RAMP3, TBRG4, and DAD1. Furthermore, we discovered several fusion events of interest involving RASA2, NFKB2, BCR, FASN, ZEB1, TYK2, and SGMS1. Our work has implications for the development of potential therapeutic approaches for this aggressive disease.
dc.description.sponsorship This project was funded by “Retos de la Sociedad 2013: Europa Redes y Gestores” Programme from the Spanish Ministry of Economy and Competitiveness no. SAF2013-49108-R (to XE) and RD12/0036/0044 Red Temática de Investigación Cooperativa en Cancer, Fondo Europeo de Desarrollo Regional (to BE, FG, and RP), the Generalitat de Catalunya AGAUR 2014 SGR-1138 (to XE) and 2014 SGR-585 (to BE, A Puiggros, and FG), the European Commission 7th Framework Program (FP7/2007-2013) under grant agreement 282510 (A BLUEPRINT of haematopoietic Epigenomes to XE) and 262055 (European Sequencing and Genotyping Infrastructure to XE), Instituto de Salud Carlos III FEDER (PT13/0010/0005), and the “Xarxa de Bancs de tumors sponsored by Pla Director d’Oncologia de Catalunya.” We would also like to thank “Xarxa de Limfomes Cutanis de Catalunaya.” A Prasad is a Marie Curie Postdoctoral fellow supported by the European Commission 7th framework program (FP7/2007-2013) under grant agreement no. 625356. We acknowledge the support of the Spanish Ministry of Economy and Competitiveness, Centro de Excelencia Severo Ochoa 2013-2017, SEV-2012-0208.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Elsevier
dc.relation.ispartof Journal of Investigative Dermatology. 2016 Jul;136(7):1490-9
dc.rights This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.other Pell -- Malalties
dc.subject.other Gens humans
dc.title Identification of gene mutations and fusion genes in patients with Sézary syndrome.
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1016/j.jid.2016.03.024
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/282510
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/625356
dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/SAF2013-49108-R
dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/262055
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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