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  Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

Jones, D. T., Hutter, B., Jager, N., Korshunov, A., Kool, M., Warnatz, H. J., et al. (2013). Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. Nature Genetics, 45(8), 927-32. doi:ng.2682 [pii]10.1038/ng.2682.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0019-0661-9 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0019-0663-5
Genre: Journal Article

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2013
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2013, Rights Managed by Nature Publishing Group
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Jones, D. T., Author
Hutter, B., Author
Jager, N., Author
Korshunov, A., Author
Kool, M., Author
Warnatz, H. J.1, Author              
Zichner, T., Author
Lambert, S. R., Author
Ryzhova, M., Author
Quang, D. A., Author
Fontebasso, A. M., Author
Stutz, A. M., Author
Hutter, S., Author
Zuckermann, M., Author
Sturm, D., Author
Gronych, J., Author
Lasitschka, B., Author
Schmidt, S., Author
Seker-Cin, H., Author
Witt, H., Author
Sultan, M.2, Author              Ralser, M.3, Author              Northcott, P. A., AuthorHovestadt, V., AuthorBender, S., AuthorPfaff, E., AuthorStark, S., AuthorFaury, D., AuthorSchwartzentruber, J., AuthorMajewski, J., AuthorWeber, U. D., AuthorZapatka, M., AuthorRaeder, B., AuthorSchlesner, M., AuthorWorth, C. L., AuthorBartholomae, C. C., Authorvon Kalle, C., AuthorImbusch, C. D., AuthorRadomski, S., AuthorLawerenz, C., Authorvan Sluis, P., AuthorKoster, J., AuthorVolckmann, R., AuthorVersteeg, R., AuthorLehrach, H.3, Author              Monoranu, C., AuthorWinkler, B., AuthorUnterberg, A., AuthorHerold-Mende, C., AuthorMilde, T., AuthorKulozik, A. E., AuthorEbinger, M., AuthorSchuhmann, M. U., AuthorCho, Y. J., AuthorPomeroy, S. L., Authorvon Deimling, A., AuthorWitt, O., AuthorTaylor, M. D., AuthorWolf, S., AuthorKarajannis, M. A., AuthorEberhart, C. G., AuthorScheurlen, W., AuthorHasselblatt, M., AuthorLigon, K. L., AuthorKieran, M. W., AuthorKorbel, J. O., AuthorYaspo, M. L.2, Author              Brors, B., AuthorFelsberg, J., AuthorReifenberger, G., AuthorCollins, V. P., AuthorJabado, N., AuthorEils, R., AuthorLichter, P., AuthorPfister, S. M., Author more..
Affiliations:
1Department of Biomedical Optics, Max Planck Institute for Medical Research, Max Planck Society, ou_1497699              
2Human Chromosome 21 (Marie-Laure Yaspo), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479652              
3Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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Free keywords: Animals Astrocytoma/*genetics/metabolism Base Sequence Brain Neoplasms/*genetics/metabolism Cell Line Cell Transformation, Neoplastic/genetics/metabolism Chromosome Breakpoints Chromosomes, Human, Pair 6 Chromosomes, Human, Pair 9 Fibroblast Growth Factors/metabolism Humans MAP Kinase Signaling System Mice Models, Molecular *Mutation Oncogene Proteins, Fusion/chemistry/genetics Protein Conformation Proto-Oncogene Proteins B-raf/chemistry/genetics Receptor, Fibroblast Growth Factor, Type 1/*genetics/metabolism Receptor, trkB/*genetics/metabolism
 Abstract: Pilocytic astrocytoma, the most common childhood brain tumor, is typically associated with mitogen-activated protein kinase (MAPK) pathway alterations. Surgically inaccessible midline tumors are therapeutically challenging, showing sustained tendency for progression and often becoming a chronic disease with substantial morbidities. Here we describe whole-genome sequencing of 96 pilocytic astrocytomas, with matched RNA sequencing (n = 73), conducted by the International Cancer Genome Consortium (ICGC) PedBrain Tumor Project. We identified recurrent activating mutations in FGFR1 and PTPN11 and new NTRK2 fusion genes in non-cerebellar tumors. New BRAF-activating changes were also observed. MAPK pathway alterations affected all tumors analyzed, with no other significant mutations identified, indicating that pilocytic astrocytoma is predominantly a single-pathway disease. Notably, we identified the same FGFR1 mutations in a subset of H3F3A-mutated pediatric glioblastoma with additional alterations in the NF1 gene. Our findings thus identify new potential therapeutic targets in distinct subsets of pilocytic astrocytoma and childhood glioblastoma.

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Language(s): eng - English
 Dates: 2013-03-262013-06-032013-06-302013
 Publication Status: Published in print
 Pages: 8
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

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Title: Nature Genetics
  Other : Nature Genet.
Source Genre: Journal
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Publ. Info: New York, NY : Nature America, Inc.
Pages: - Volume / Issue: 45 (8) Sequence Number: - Start / End Page: 927 - 32 Identifier: ISSN: 1061-4036
CoNE: https://pure.mpg.de/cone/journals/resource/954925598609