Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/132739
Title: | Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas. |
Author: | 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 |
Keywords: | Mutació (Biologia) Gens Cèl·lules T Mutation (Biology) Genes T cells |
Issue Date: | 24-Jan-2017 |
Publisher: | National Academy of Sciences |
Abstract: | 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. |
Note: | Reproducció del document publicat a: https://doi.org/10.1073/pnas.1608839114 |
It is part of: | Proceedings of the National Academy of Sciences of the United States of America - PNAS, 2017, vol. 114, num. 4, p. 764-9 |
URI: | http://hdl.handle.net/2445/132739 |
ISSN: | 0027-8424 |
Appears in Collections: | Articles publicats en revistes (Fonaments Clínics) |
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File | Description | Size | Format | |
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671347.pdf | 1.28 MB | Adobe PDF | View/Open |
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