Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas.

Peripheral T-cell lymphomas (PTCLs) are a heterogeneous group of non-Hodgkin lymphomas frequently associated with poor prognosis and for which genetic mechanisms of transformation remain incompletely understood. Using RNA sequencing and targeted sequencing, here we identify a recurrent in-frame dele...

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Autores: Abate, Francesco, Silva-Almeida, Ana C. da, Zairis, Sakellarios, Robles Valero, Javier, Couronne, Lucile, Khiabanian, Hossein, Quinn, S. Aidan, Kim, Mi-Yeon, Laginestra, M.Antonella, Kim, Christine, Fiore, Danilo, Bhagat, Govind, Piris, Miguel A., Campo Güerri, Elias, Lossos, Izidore S., Bernard, Olivier A., Inghirami, Giorgio, Pileri, Stefano Aldo, Bustelo, Xosé R., Rabadán, Raul, Ferrando, Adolfo A., Palomero, Teresa
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2017
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/132739
Acceso en línea:https://hdl.handle.net/2445/132739
Access Level:acceso abierto
Palabra clave:Mutació (Biologia)
Gens
Cèl·lules T
Mutation (Biology)
Genes
T cells
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repository_id_str
spelling Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas.Abate, FrancescoSilva-Almeida, Ana C. daZairis, SakellariosRobles Valero, JavierCouronne, LucileKhiabanian, HosseinQuinn, S. AidanKim, Mi-YeonLaginestra, M.AntonellaKim, ChristineFiore, DaniloBhagat, GovindPiris, Miguel A.Campo Güerri, EliasLossos, Izidore S.Bernard, Olivier A.Inghirami, GiorgioPileri, Stefano AldoBustelo, Xosé R.Rabadán, RaulFerrando, Adolfo A.Palomero, TeresaMutació (Biologia)GensCèl·lules TMutation (Biology)GenesT cellsPeripheral T-cell lymphomas (PTCLs) are a heterogeneous group of non-Hodgkin lymphomas frequently associated with poor prognosis and for which genetic mechanisms of transformation remain incompletely understood. Using RNA sequencing and targeted sequencing, here we identify a recurrent in-frame deletion (VAV1 Δ778-786) generated by a focal deletion-driven alternative splicing mechanism as well as novel VAV1 gene fusions (VAV1-THAP4, VAV1-MYO1F, and VAV1-S100A7) in PTCL. Mechanistically these genetic lesions result in increased activation of VAV1 catalytic-dependent (MAPK, JNK) and non-catalytic-dependent (nuclear factor of activated T cells, NFAT) VAV1 effector pathways. These results support a driver oncogenic role for VAV1 signaling in the pathogenesis of PTCL.National Academy of Sciences2019201920172019info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion6 p.application/pdfapplication/pdfhttps://hdl.handle.net/2445/132739Articles publicats en revistes (Fonaments Clínics)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.1073/pnas.1608839114Proceedings of the National Academy of Sciences of the United States of America - PNAS, 2017, vol. 114, num. 4, p. 764-9(c) Abate, Francesco et al., 2017info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1327392026-05-29T05:05:01Z
dc.title.none.fl_str_mv Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas.
title Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas.
spellingShingle Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas.
Abate, Francesco
Mutació (Biologia)
Gens
Cèl·lules T
Mutation (Biology)
Genes
T cells
title_short Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas.
title_full Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas.
title_fullStr Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas.
title_full_unstemmed Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas.
title_sort Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas.
dc.creator.none.fl_str_mv Abate, Francesco
Silva-Almeida, Ana C. da
Zairis, Sakellarios
Robles Valero, Javier
Couronne, Lucile
Khiabanian, Hossein
Quinn, S. Aidan
Kim, Mi-Yeon
Laginestra, M.Antonella
Kim, Christine
Fiore, Danilo
Bhagat, Govind
Piris, Miguel A.
Campo Güerri, Elias
Lossos, Izidore S.
Bernard, Olivier A.
Inghirami, Giorgio
Pileri, Stefano Aldo
Bustelo, Xosé R.
Rabadán, Raul
Ferrando, Adolfo A.
Palomero, Teresa
author Abate, Francesco
author_facet Abate, Francesco
Silva-Almeida, Ana C. da
Zairis, Sakellarios
Robles Valero, Javier
Couronne, Lucile
Khiabanian, Hossein
Quinn, S. Aidan
Kim, Mi-Yeon
Laginestra, M.Antonella
Kim, Christine
Fiore, Danilo
Bhagat, Govind
Piris, Miguel A.
Campo Güerri, Elias
Lossos, Izidore S.
Bernard, Olivier A.
Inghirami, Giorgio
Pileri, Stefano Aldo
Bustelo, Xosé R.
Rabadán, Raul
Ferrando, Adolfo A.
Palomero, Teresa
author_role author
author2 Silva-Almeida, Ana C. da
Zairis, Sakellarios
Robles Valero, Javier
Couronne, Lucile
Khiabanian, Hossein
Quinn, S. Aidan
Kim, Mi-Yeon
Laginestra, M.Antonella
Kim, Christine
Fiore, Danilo
Bhagat, Govind
Piris, Miguel A.
Campo Güerri, Elias
Lossos, Izidore S.
Bernard, Olivier A.
Inghirami, Giorgio
Pileri, Stefano Aldo
Bustelo, Xosé R.
Rabadán, Raul
Ferrando, Adolfo A.
Palomero, Teresa
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Mutació (Biologia)
Gens
Cèl·lules T
Mutation (Biology)
Genes
T cells
topic Mutació (Biologia)
Gens
Cèl·lules T
Mutation (Biology)
Genes
T cells
description Peripheral T-cell lymphomas (PTCLs) are a heterogeneous group of non-Hodgkin lymphomas frequently associated with poor prognosis and for which genetic mechanisms of transformation remain incompletely understood. Using RNA sequencing and targeted sequencing, here we identify a recurrent in-frame deletion (VAV1 Δ778-786) generated by a focal deletion-driven alternative splicing mechanism as well as novel VAV1 gene fusions (VAV1-THAP4, VAV1-MYO1F, and VAV1-S100A7) in PTCL. Mechanistically these genetic lesions result in increased activation of VAV1 catalytic-dependent (MAPK, JNK) and non-catalytic-dependent (nuclear factor of activated T cells, NFAT) VAV1 effector pathways. These results support a driver oncogenic role for VAV1 signaling in the pathogenesis of PTCL.
publishDate 2017
dc.date.none.fl_str_mv 2017
2019
2019
2019
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/132739
url https://hdl.handle.net/2445/132739
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.1073/pnas.1608839114
Proceedings of the National Academy of Sciences of the United States of America - PNAS, 2017, vol. 114, num. 4, p. 764-9
dc.rights.none.fl_str_mv (c) Abate, Francesco et al., 2017
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) Abate, Francesco et al., 2017
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 6 p.
application/pdf
application/pdf
dc.publisher.none.fl_str_mv National Academy of Sciences
publisher.none.fl_str_mv National Academy of Sciences
dc.source.none.fl_str_mv Articles publicats en revistes (Fonaments Clínics)
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.811543

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