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, Teresa2019-05-062019-05-062017-01-240027-8424https://hdl.handle.net/2445/132739Peripheral 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.6 p.application/pdfeng(c) Abate, Francesco et al., 2017Mutació (Biologia)GensCèl·lules TMutation (Biology)GenesT cellsinfo:eu-repo/semantics/article6713472019-05-06info:eu-repo/semantics/openAccess28062691