Recurrent PTPRB and PLCG1 mutations in angiosarcoma
作者： Sam Behjati , Patrick S Tarpey , Helen Sheldon , Inigo Martincorena , Peter Van Loo
DOI: 10.1038/NG.2921
关键词: Angiogenesis 、 Angiosarcoma 、 Mutation 、 Biology 、 Tyrosine kinase 、 Neovascularization 、 PTPRB 、 Vascular endothelial growth factor A 、 Missense mutation 、 Cancer research
摘要: Angiosarcoma is an aggressive malignancy that arises spontaneously or secondarily to ionizing radiation chronic lymphoedema. Previous work has identified aberrant angiogenesis, including occasional somatic mutations in angiogenesis signaling genes, as a key driver of angiosarcoma. Here we employed whole-genome, whole-exome and targeted sequencing study the changes underpinning primary secondary We recurrent two PTPRB PLCG1, which are intimately linked angiogenesis. The endothelial phosphatase PTPRB, negative regulator vascular growth factor tyrosine kinases, harbored predominantly truncating 10 39 tumors (26%). signal transducer encoded recurrent, likely activating p.Arg707Gln missense variant 3 34 cases (9%). Overall, 15 (38%) at least one mutation genes. Our findings inform reinforce current therapeutic efforts target
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Gregor Fachinger, Urban Deutsch, Werner Risau, Interaction of vascular-endothelial protein-tyrosine phosphatase with the angiopoietin receptor tie-2 Oncogene. ,vol. 18, pp. 5948- 5953 ,(1999) , 10.1038/SJ.ONC.1202992
Chris Greenman, Richard Wooster, P. Andrew Futreal, Michael R. Stratton, Douglas F. Easton, Statistical analysis of pathogenicity of somatic mutations in cancer. Genetics. ,vol. 173, pp. 2187- 2198 ,(2006) , 10.1534/GENETICS.105.044677
Zhe Li, Hui Huang, Patricia Boland, Melissa G. Dominguez, Patricia Burfeind, Ka-Man Lai, Hsin-Chieh Lin, Nicholas W. Gale, Christopher Daly, Wojtek Auerbach, David Valenzuela, George D. Yancopoulos, Gavin Thurston, Embryonic stem cell tumor model reveals role of vascular endothelial receptor tyrosine phosphatase in regulating Tie2 pathway in tumor angiogenesis Proceedings of the National Academy of Sciences of the United States of America. ,vol. 106, pp. 22399- 22404 ,(2009) , 10.1073/PNAS.0911189106
Hong-Jun Liao, Tsutomu Kume, Catriona McKay, Ming-Jiang Xu, James N. Ihle, Graham Carpenter, Absence of Erythrogenesis and Vasculogenesis inPlcg1-deficient Mice Journal of Biological Chemistry. ,vol. 277, pp. 9335- 9341 ,(2002) , 10.1074/JBC.M109955200
M. G. Dominguez, V. C. Hughes, L. Pan, M. Simmons, C. Daly, K. Anderson, I. Noguera-Troise, A. J. Murphy, D. M. Valenzuela, S. Davis, G. Thurston, G. D. Yancopoulos, N. W. Gale, Vascular endothelial tyrosine phosphatase (VE-PTP)-null mice undergo vasculogenesis but die embryonically because of defects in angiogenesis. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 104, pp. 3243- 3248 ,(2007) , 10.1073/PNAS.0611510104
L.D. Covassin, A.F. Siekmann, M.C. Kacergis, E. Laver, J.C. Moore, J.A. Villefranc, B.M. Weinstein, N.D. Lawson, A genetic screen for vascular mutants in zebrafish reveals dynamic roles for Vegf/Plcg1 signaling during artery development Developmental Biology. ,vol. 329, pp. 212- 226 ,(2009) , 10.1016/J.YDBIO.2009.02.031
Tianhua Guo, Lei Zhang, Ning-En Chang, Samuel Singer, Robert G. Maki, Cristina R Antonescu, Consistent MYC and FLT4 Gene Amplification in Radiation-Induced Angiosarcoma but not in other Radiation-Associated Atypical Vascular Lesions Genes, Chromosomes and Cancer. ,vol. 50, pp. 25- 33 ,(2011) , 10.1002/GCC.20827
P. Van Loo, S. H. Nordgard, O. C. Lingjaerde, H. G. Russnes, I. H. Rye, W. Sun, V. J. Weigman, P. Marynen, A. Zetterberg, B. Naume, C. M. Perou, A.-L. Borresen-Dale, V. N. Kristensen, Allele-specific copy number analysis of tumors Proceedings of the National Academy of Sciences of the United States of America. ,vol. 107, pp. 16910- 16915 ,(2010) , 10.1073/PNAS.1009843107
Sebastian Bäumer, Linda Keller, Astrid Holtmann, Ruth Funke, Benjamin August, Alexander Gamp, Hartwig Wolburg, Karen Wolburg-Buchholz, Urban Deutsch, Dietmar Vestweber, Vascular endothelial cell–specific phosphotyrosine phosphatase (VE-PTP) activity is required for blood vessel development Blood. ,vol. 107, pp. 4754- 4762 ,(2006) , 10.1182/BLOOD-2006-01-0141
Silvia Carra, Efrem Foglia, Solei Cermenati, Erica Bresciani, Costanza Giampietro, Carla Lora Lamia, Elisabetta Dejana, Monica Beltrame, Franco Cotelli, Ve-ptp Modulates Vascular Integrity by Promoting Adherens Junction Maturation PLoS ONE. ,vol. 7, pp. e51245- 12 ,(2012) , 10.1371/JOURNAL.PONE.0051245