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Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

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Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. / Jones, David T W; Hutter, Barbara; Jäger, Natalie; Korshunov, Andrey; Kool, Marcel; Warnatz, Hans-Jörg; Zichner, Thomas; Lambert, Sally R; Ryzhova, Marina; Quang, Dong Anh Khuong; Fontebasso, Adam M; Stütz, Adrian M; Hutter, Sonja; Zuckermann, Marc; Sturm, Dominik; Gronych, Jan; Lasitschka, Bärbel; Schmidt, Sabine; Seker-Cin, Huriye; Witt, Hendrik; Sultan, Marc; Ralser, Meryem; Northcott, Paul A; Hovestadt, Volker; Bender, Sebastian; Pfaff, Elke; Stark, Sebastian; Faury, Damien; Schwartzentruber, Jeremy; Majewski, Jacek; Weber, Ursula D; Zapatka, Marc; Raeder, Benjamin; Schlesner, Matthias; Worth, Catherine L; Bartholomae, Cynthia C; von Kalle, Christof; Imbusch, Charles D; Radomski, Sylwester; Lawerenz, Chris; van Sluis, Peter; Koster, Jan; Volckmann, Richard; Versteeg, Rogier; Lehrach, Hans; Monoranu, Camelia; Winkler, Beate; Unterberg, Andreas; Herold-Mende, Christel; Milde, Till; Kulozik, Andreas E; Ebinger, Martin; Schuhmann, Martin U; Cho, Yoon-Jae; Pomeroy, Scott L; von Deimling, Andreas; Witt, Olaf; Taylor, Michael D; Wolf, Stephan; Karajannis, Matthias A; Eberhart, Charles G; Scheurlen, Wolfram; Hasselblatt, Martin; Ligon, Keith L; Kieran, Mark W; Korbel, Jan O; Yaspo, Marie-Laure; Brors, Benedikt; Felsberg, Jörg; Reifenberger, Guido; Collins, V Peter; Jabado, Nada; Eils, Roland; Lichter, Peter; Pfister, Stefan M; International Cancer Genome Consortium PedBrain Tumor Project.

In: NAT GENET, Vol. 45, No. 8, 08.2013, p. 927-932.

Research output: SCORING: Contribution to journal › Letter › Research › peer-review

Harvard

Jones, DTW, Hutter, B, Jäger, N, Korshunov, A, Kool, M, Warnatz, H-J, Zichner, T, Lambert, SR, Ryzhova, M, Quang, DAK, Fontebasso, AM, Stütz, AM, Hutter, S, Zuckermann, M, Sturm, D, Gronych, J, Lasitschka, B, Schmidt, S, Seker-Cin, H, Witt, H, Sultan, M, Ralser, M, Northcott, PA, Hovestadt, V, Bender, S, Pfaff, E, Stark, S, Faury, D, Schwartzentruber, J, Majewski, J, Weber, UD, Zapatka, M, Raeder, B, Schlesner, M, Worth, CL, Bartholomae, CC, von Kalle, C, Imbusch, CD, Radomski, S, Lawerenz, C, van Sluis, P, Koster, J, Volckmann, R, Versteeg, R, Lehrach, H, Monoranu, C, Winkler, B, Unterberg, A, Herold-Mende, C, Milde, T, Kulozik, AE, Ebinger, M, Schuhmann, MU, Cho, Y-J, Pomeroy, SL, von Deimling, A, Witt, O, Taylor, MD, Wolf, S, Karajannis, MA, Eberhart, CG, Scheurlen, W, Hasselblatt, M, Ligon, KL, Kieran, MW, Korbel, JO, Yaspo, M-L, Brors, B, Felsberg, J, Reifenberger, G, Collins, VP, Jabado, N, Eils, R, Lichter, P, Pfister, SM & International Cancer Genome Consortium PedBrain Tumor Project 2013, 'Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma', NAT GENET, vol. 45, no. 8, pp. 927-932. https://doi.org/10.1038/ng.2682

APA

Jones, D. T. W., Hutter, B., Jäger, N., Korshunov, A., Kool, M., Warnatz, H-J., Zichner, T., Lambert, S. R., Ryzhova, M., Quang, D. A. K., Fontebasso, A. M., Stütz, A. M., Hutter, S., Zuckermann, M., Sturm, D., Gronych, J., Lasitschka, B., Schmidt, S., Seker-Cin, H., ... International Cancer Genome Consortium PedBrain Tumor Project (2013). Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. NAT GENET, 45(8), 927-932. https://doi.org/10.1038/ng.2682

Vancouver

Jones DTW, Hutter B, Jäger N, Korshunov A, Kool M, Warnatz H-J et al. Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma. NAT GENET. 2013 Aug;45(8):927-932. https://doi.org/10.1038/ng.2682

Bibtex

@article{7b08ac0090184ec585ed3e960a6fa982,
title = "Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma",
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.",
keywords = "Animals, Astrocytoma/genetics, Base Sequence, Brain Neoplasms/genetics, Cell Line, Cell Transformation, Neoplastic/genetics, 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, Protein Conformation, Proto-Oncogene Proteins B-raf/chemistry, Receptor, Fibroblast Growth Factor, Type 1/genetics, Receptor, trkB/genetics",
author = "Jones, {David T W} and Barbara Hutter and Natalie J{\"a}ger and Andrey Korshunov and Marcel Kool and Hans-J{\"o}rg Warnatz and Thomas Zichner and Lambert, {Sally R} and Marina Ryzhova and Quang, {Dong Anh Khuong} and Fontebasso, {Adam M} and St{\"u}tz, {Adrian M} and Sonja Hutter and Marc Zuckermann and Dominik Sturm and Jan Gronych and B{\"a}rbel Lasitschka and Sabine Schmidt and Huriye Seker-Cin and Hendrik Witt and Marc Sultan and Meryem Ralser and Northcott, {Paul A} and Volker Hovestadt and Sebastian Bender and Elke Pfaff and Sebastian Stark and Damien Faury and Jeremy Schwartzentruber and Jacek Majewski and Weber, {Ursula D} and Marc Zapatka and Benjamin Raeder and Matthias Schlesner and Worth, {Catherine L} and Bartholomae, {Cynthia C} and {von Kalle}, Christof and Imbusch, {Charles D} and Sylwester Radomski and Chris Lawerenz and {van Sluis}, Peter and Jan Koster and Richard Volckmann and Rogier Versteeg and Hans Lehrach and Camelia Monoranu and Beate Winkler and Andreas Unterberg and Christel Herold-Mende and Till Milde and Kulozik, {Andreas E} and Martin Ebinger and Schuhmann, {Martin U} and Yoon-Jae Cho and Pomeroy, {Scott L} and {von Deimling}, Andreas and Olaf Witt and Taylor, {Michael D} and Stephan Wolf and Karajannis, {Matthias A} and Eberhart, {Charles G} and Wolfram Scheurlen and Martin Hasselblatt and Ligon, {Keith L} and Kieran, {Mark W} and Korbel, {Jan O} and Marie-Laure Yaspo and Benedikt Brors and J{\"o}rg Felsberg and Guido Reifenberger and Collins, {V Peter} and Nada Jabado and Roland Eils and Peter Lichter and Pfister, {Stefan M} and {International Cancer Genome Consortium PedBrain Tumor Project}",
year = "2013",
month = aug,
doi = "10.1038/ng.2682",
language = "English",
volume = "45",
pages = "927--932",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",
number = "8",

}

RIS

TY - JOUR

T1 - Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

AU - Jones, David T W

AU - Hutter, Barbara

AU - Jäger, Natalie

AU - Korshunov, Andrey

AU - Kool, Marcel

AU - Warnatz, Hans-Jörg

AU - Zichner, Thomas

AU - Lambert, Sally R

AU - Ryzhova, Marina

AU - Quang, Dong Anh Khuong

AU - Fontebasso, Adam M

AU - Stütz, Adrian M

AU - Hutter, Sonja

AU - Zuckermann, Marc

AU - Sturm, Dominik

AU - Gronych, Jan

AU - Lasitschka, Bärbel

AU - Schmidt, Sabine

AU - Seker-Cin, Huriye

AU - Witt, Hendrik

AU - Sultan, Marc

AU - Ralser, Meryem

AU - Northcott, Paul A

AU - Hovestadt, Volker

AU - Bender, Sebastian

AU - Pfaff, Elke

AU - Stark, Sebastian

AU - Faury, Damien

AU - Schwartzentruber, Jeremy

AU - Majewski, Jacek

AU - Weber, Ursula D

AU - Zapatka, Marc

AU - Raeder, Benjamin

AU - Schlesner, Matthias

AU - Worth, Catherine L

AU - Bartholomae, Cynthia C

AU - von Kalle, Christof

AU - Imbusch, Charles D

AU - Radomski, Sylwester

AU - Lawerenz, Chris

AU - van Sluis, Peter

AU - Koster, Jan

AU - Volckmann, Richard

AU - Versteeg, Rogier

AU - Lehrach, Hans

AU - Monoranu, Camelia

AU - Winkler, Beate

AU - Unterberg, Andreas

AU - Herold-Mende, Christel

AU - Milde, Till

AU - Kulozik, Andreas E

AU - Ebinger, Martin

AU - Schuhmann, Martin U

AU - Cho, Yoon-Jae

AU - Pomeroy, Scott L

AU - von Deimling, Andreas

AU - Witt, Olaf

AU - Taylor, Michael D

AU - Wolf, Stephan

AU - Karajannis, Matthias A

AU - Eberhart, Charles G

AU - Scheurlen, Wolfram

AU - Hasselblatt, Martin

AU - Ligon, Keith L

AU - Kieran, Mark W

AU - Korbel, Jan O

AU - Yaspo, Marie-Laure

AU - Brors, Benedikt

AU - Felsberg, Jörg

AU - Reifenberger, Guido

AU - Collins, V Peter

AU - Jabado, Nada

AU - Eils, Roland

AU - Lichter, Peter

AU - Pfister, Stefan M

AU - International Cancer Genome Consortium PedBrain Tumor Project

PY - 2013/8

Y1 - 2013/8

N2 - 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.

AB - 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.

KW - Animals

KW - Astrocytoma/genetics

KW - Base Sequence

KW - Brain Neoplasms/genetics

KW - Cell Line

KW - Cell Transformation, Neoplastic/genetics

KW - Chromosome Breakpoints

KW - Chromosomes, Human, Pair 6

KW - Chromosomes, Human, Pair 9

KW - Fibroblast Growth Factors/metabolism

KW - Humans

KW - MAP Kinase Signaling System

KW - Mice

KW - Models, Molecular

KW - Mutation

KW - Oncogene Proteins, Fusion/chemistry

KW - Protein Conformation

KW - Proto-Oncogene Proteins B-raf/chemistry

KW - Receptor, Fibroblast Growth Factor, Type 1/genetics

KW - Receptor, trkB/genetics

U2 - 10.1038/ng.2682

DO - 10.1038/ng.2682

M3 - Letter

C2 - 23817572

VL - 45

SP - 927

EP - 932

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

IS - 8

ER -