Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas [Medical Sciences],Proceedings of the National Academy of Sciences of the United States of America

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Activating mutations and translocations in the guanine exchange factor VAV1 in peripheral T-cell lymphomas [Medical Sciences]
Proceedings of the National Academy of Sciences of the United States of America ( IF 9.4 ) Pub Date : 2017-01-24 09:24:01 , DOI: 10.1073/pnas.1608839114
Francesco Abate ₁ , Ana C da Silva-Almeida ₂ , Sakellarios Zairis ₁ , Javier Robles-Valero ₃ , Lucile Couronne _{4,

5,

6} , Hossein Khiabanian ₁ , S Aidan Quinn ₂ , Mi-Yeon Kim ₂ , Maria Antonella Laginestra ₇ , Christine Kim ₂ , Danilo Fiore ₈ , Govind Bhagat ₉ , Miguel Angel Piris ₁₀ , Elias Campo ₁₁ , Izidore S Lossos _{12,

13} , Olivier A Bernard _{14,

15,

16} , Giorgio Inghirami ₈ , Stefano Pileri ₇ , Xosé R Bustelo _{3,

17} , Raul Rabadan _{18,

19} , Adolfo A Ferrando _{9,

20,

21} , Teresa Palomero _{9,

20}

Affiliation

Department of Systems Biology, Columbia University Medical Center, New York, NY 10032.
Institute for Cancer Genetics, Columbia University, New York, NY 10032.
Centro de Investigación del Cáncer, Consejo Superior de Investigaciones Científicas-University of Salamanca, 37007 Salamanca, Spain.
Department of Adult Hematology, Necker Hospital, 75015 Paris, France.
INSERM UMR163, Centre National de la Recherche Scientifique Équipe de Recherche Labellisée 8254, Institut Imagine, 75015 Paris, France.
Paris Descartes University, 75006 Paris, France.
Hemopathology Unit, European Institute of Oncology, 20139 Milan, Italy.
Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, NY 10065.
Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032.
Instituto de Formación e Investigación, Hospital Universitario Marqués de Valdecilla, 39008 Santander, Spain.
Department of Pathology, Hospital Clinic, 08036 Barcelona, Spain.
Division of Hematology-Oncology, Sylvester Comprehensive Cancer Center, Miami, FL 33136.
Department of Molecular and Cellular Pharmacology, University of Miami, Miami, FL 33101.
INSERM U1170, 94805 Villejuif, France.
Université Paris-Sud, 91405 Orsay, France.
Gustave Roussy, 94805 Villejuif, France.
Centro de Investigacion Biomedica en Red de Cancer (CIBERONC), Spain.
Department of Systems Biology, Columbia University Medical Center, New York, NY 10032;
Department of Biomedical Informatics, Columbia University Medical Center, New York, NY 10032.
Institute for Cancer Genetics, Columbia University, New York, NY 10032;
Department of Pediatrics, Columbia University Medical Center, New York, NY 10032.

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...

中文翻译：

激活外周 T 细胞淋巴瘤中鸟嘌呤交换因子 VAV1 的突变和易位 [医学]

外周 T 细胞淋巴瘤 (PTCL) 是一组异质的非霍奇金淋巴瘤，通常与预后不良相关，其转化的遗传机制仍未完全了解。使用 RNA 测序和靶向测序，我们在此确定了由局灶性缺失驱动的可变剪接机制产生的经常性框内缺失 (VAV1 Δ778–786)，如...

更新日期：2017-01-26

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