Deep Sequencing Identifies IDH1 R132S Mutation in Adult Medulloblastoma

作者: Matija Snuderl , Joanna Triscott , Paul A. Northcott , Helen A. Shih , Esther Kong

DOI: 10.1200/JCO.2013.49.4864

关键词: Mutation (genetic algorithm)Cancer researchIsocitrate dehydrogenaseCerebellar NeoplasmIDH1 R132SDeep sequencingAdult MedulloblastomaMedicineMedulloblastoma

摘要:

参考文章(24)
Alisa M. Goldstein, Jonathan Yuen, Margaret A. Tucker, Second cancers after medulloblastoma: population-based results from the United States and Sweden. Cancer Causes & Control. ,vol. 8, pp. 865- 871 ,(1997) , 10.1023/A:1018464328836
Roger J. Packer, Joel Goldwein, H. Stacy Nicholson, L. Gilbert Vezina, Jeffrey C. Allen, M. Douglas Ris, Karin Muraszko, Lucy B. Rorke, William M. Wara, Bruce H. Cohen, James M. Boyett, Treatment of Children With Medulloblastomas With Reduced-Dose Craniospinal Radiation Therapy and Adjuvant Chemotherapy: A Children's Cancer Group Study Journal of Clinical Oncology. ,vol. 17, pp. 2127- 2136 ,(1999) , 10.1200/JCO.1999.17.7.2127
Andrew W. Walter, Raymond K. Mulhern, Amar Gajjar, Richard L. Heideman, David Reardon, R. Alex Sanford, Xiaoping Xiong, Larry E. Kun, Survival and Neurodevelopmental Outcome of Young Children With Medulloblastoma at St Jude Children's Research Hospital Journal of Clinical Oncology. ,vol. 17, pp. 3720- 3728 ,(1999) , 10.1200/JCO.1999.17.12.3720
Trevor J. Pugh, Shyamal Dilhan Weeraratne, Tenley C. Archer, Daniel A. Pomeranz Krummel, Daniel Auclair, James Bochicchio, Mauricio O. Carneiro, Scott L. Carter, Kristian Cibulskis, Rachel L. Erlich, Heidi Greulich, Michael S. Lawrence, Niall J. Lennon, Aaron McKenna, James Meldrim, Alex H. Ramos, Michael G. Ross, Carsten Russ, Erica Shefler, Andrey Sivachenko, Brian Sogoloff, Petar Stojanov, Pablo Tamayo, Jill P. Mesirov, Vladimir Amani, Natalia Teider, Soma Sengupta, Jessica Pierre Francois, Paul A. Northcott, Michael D. Taylor, Furong Yu, Gerald R. Crabtree, Amanda G. Kautzman, Stacey B. Gabriel, Gad Getz, Natalie Jäger, David T. W. Jones, Peter Lichter, Stefan M. Pfister, Thomas M. Roberts, Matthew Meyerson, Scott L. Pomeroy, Yoon-Jae Cho, Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations Nature. ,vol. 488, pp. 106- 110 ,(2012) , 10.1038/NATURE11329
Michael M. H. Yang, Ash Singhal, Shahrad Rod Rassekh, Stephen Yip, Patrice Eydoux, Christopher Dunham, Possible differentiation of cerebral glioblastoma into pleomorphic xanthoastrocytoma: an unusual case in an infant. Journal of Neurosurgery. ,vol. 9, pp. 517- 523 ,(2012) , 10.3171/2012.1.PEDS11326
Matija Snuderl, Ladan Fazlollahi, Long P. Le, Mai Nitta, Boryana H. Zhelyazkova, Christian J. Davidson, Sara Akhavanfard, Daniel P. Cahill, Kenneth D. Aldape, Rebecca A. Betensky, David N. Louis, A. John Iafrate, Mosaic Amplification of Multiple Receptor Tyrosine Kinase Genes in Glioblastoma Cancer Cell. ,vol. 20, pp. 810- 817 ,(2011) , 10.1016/J.CCR.2011.11.005
Paul A. Northcott, David J. H. Shih, Marc Remke, Yoon-Jae Cho, Marcel Kool, Cynthia Hawkins, Charles G. Eberhart, Adrian Dubuc, Toumy Guettouche, Yoslayma Cardentey, Eric Bouffet, Scott L. Pomeroy, Marco Marra, David Malkin, James T. Rutka, Andrey Korshunov, Stefan Pfister, Michael D. Taylor, Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples Acta Neuropathologica. ,vol. 123, pp. 615- 626 ,(2012) , 10.1007/S00401-011-0899-7
Stephen J. Laughton, Thomas E. Merchant, Charles A. Sklar, Larry E. Kun, Maryam Fouladi, Alberto Broniscer, E. Brannon Morris, Robert P. Sanders, Matthew J. Krasin, John Shelso, Zang Xiong, Dana Wallace, Amar Gajjar, Endocrine outcomes for children with embryonal brain tumors after risk-adapted craniospinal and conformal primary-site irradiation and high-dose chemotherapy with stem-cell rescue on the SJMB-96 trial. Journal of Clinical Oncology. ,vol. 26, pp. 1112- 1118 ,(2008) , 10.1200/JCO.2008.13.5293
D. W. Parsons, M. Li, X. Zhang, S. Jones, R. J. Leary, J. C.-H. Lin, S. M. Boca, H. Carter, J. Samayoa, C. Bettegowda, G. L. Gallia, G. I. Jallo, Z. A. Binder, Y. Nikolsky, J. Hartigan, D. R. Smith, D. S. Gerhard, D. W. Fults, S. VandenBerg, M. S. Berger, S. K. N. Marie, S. M. O. Shinjo, C. Clara, P. C. Phillips, J. E. Minturn, J. A. Biegel, A. R. Judkins, A. C. Resnick, P. B. Storm, T. Curran, Y. He, B. A. Rasheed, H. S. Friedman, S. T. Keir, R. McLendon, P. A. Northcott, M. D. Taylor, P. C. Burger, G. J. Riggins, R. Karchin, G. Parmigiani, D. D. Bigner, H. Yan, N. Papadopoulos, B. Vogelstein, K. W. Kinzler, V. E. Velculescu, The Genetic Landscape of the Childhood Cancer Medulloblastoma Science. ,vol. 331, pp. 435- 439 ,(2011) , 10.1126/SCIENCE.1198056
Andrey Korshunov, Marc Remke, Wiebke Werft, Axel Benner, Marina Ryzhova, Hendrik Witt, Dominik Sturm, Andrea Wittmann, Anna Schöttler, Jörg Felsberg, Guido Reifenberger, Stefan Rutkowski, Wolfram Scheurlen, Andreas E. Kulozik, Andreas von Deimling, Peter Lichter, Stefan M. Pfister, Adult and Pediatric Medulloblastomas Are Genetically Distinct and Require Different Algorithms for Molecular Risk Stratification Journal of Clinical Oncology. ,vol. 28, pp. 3054- 3060 ,(2010) , 10.1200/JCO.2009.25.7121