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

Prasad, Aparna; Rabionet, Raquel; Espinet Solà, Blanca; Zapata Ortiz, Luis, 1985-; Puiggros Metje, Anna Maria; Melero Vilella, Maria Carme; Puig, Anna; Sarria-Trujillo, Yaris; Ossowski, Stephan; Garcia-Muret, Maria P.; Estrach, Teresa; Servitje, Octavio; Lopez-Lerma, Ingrid; Gallardo Hernández, Fernando; Pujol Vallverdú, Ramon Maria; Estivill, Xavier, 1955-

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

Mostra el registre complet Registre parcial de l'ítem

dc.contributor.author Prasad, Aparnaca
dc.contributor.author Rabionet, Raquelca
dc.contributor.author Espinet Solà, Blancaca
dc.contributor.author Zapata Ortiz, Luis, 1985-ca
dc.contributor.author Puiggros Metje, Anna Mariaca
dc.contributor.author Melero Vilella, Maria Carmeca
dc.contributor.author Puig, Annaca
dc.contributor.author Sarria-Trujillo, Yarisca
dc.contributor.author Ossowski, Stephanca
dc.contributor.author Garcia-Muret, Maria P.ca
dc.contributor.author Estrach, Teresaca
dc.contributor.author Servitje, Octavioca
dc.contributor.author Lopez-Lerma, Ingridca
dc.contributor.author Gallardo Hernández, Fernandoca
dc.contributor.author Pujol Vallverdú, Ramon Mariaca
dc.contributor.author Estivill, Xavier, 1955-ca
dc.date.accessioned 2016-07-20T09:52:12Z
dc.date.available 2016-07-20T09:52:12Z
dc.date.issued 2016
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.ca
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/pdfca
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.2016.03.024ca
dc.identifier.doi http://dx.doi.org/10.1016/j.jid.2016.03.024
dc.identifier.issn 0022-202X
dc.identifier.uri http://hdl.handle.net/10230/27093
dc.language.iso engca
dc.publisher Elsevierca
dc.relation.ispartof Journal of Investigative Dermatology. 2016 Jul;136(7):1490-9
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 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/ca
dc.rights.accessRights info:eu-repo/semantics/openAccessca
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/ca
dc.subject.other Pell -- Malaltiesca
dc.subject.other Gens humansca
dc.title Identification of gene mutations and fusion genes in patients with Sézary syndrome.ca
dc.type info:eu-repo/semantics/articleca
dc.type.version info:eu-repo/semantics/publishedVersionca

Col·leccions

Articles (Hospital del Mar Research Institute)
Articles (Center for Genomic Regulation (CRG))
Articles (Departament de Medicina i Ciències de la Vida)
Documents OpenAIRE (Open Access Infrastructure for Research in Europe)