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001-es BibID:	BIBFORM052708
035-os BibID:	WOS:000327100500011
Első szerző:	Remke, Marc
Cím:	TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma / Marc Remke, Vijay Ramaswamy, John Peacock, David J. H. Shih, Christian Koelsche, Paul A. Northcott, Nadia Hill, Florence M. G. Cavalli, Marcel Kool, Xin Wang, Stephen C. Mack, Mark Barszczyk, A. Sorana Morrissy, Xiaochong Wu, Sameer Agnihotri, Betty Luu, David T. W. Jones, Livia Garzia, Adrian M. Dubuc, Nataliya Zhukova, Robert Vanner, Johan M. Kros, Pim J. French, Erwin G. Van Meir, Rajeev Vibhakar, Karel Zitterbart, Jennifer A. Chan, László Bognár, Almos Klekner, Boleslaw Lach, Shin Jung, Ali G. Saad, Linda M. Liau, Steffen Albrecht, Massimo Zollo, Michael K. Cooper, Reid C. Thompson, Oliver O. Delattre, Franck Bourdeaut, François F. Doz, Miklós Garami, Peter Hauser, Carlos G. Carlotti, Timothy E. Van Meter, Luca Massimi, Daniel Fults, Scott L. Pomeroy, Toshiro Kumabe, Young Shin Ra, Jeffrey R. Leonard, Samer K. Elbabaa, Jaume Mora, Joshua B. Rubin, Yoon-Jae Cho, Roger E. McLendon, Darell D. Bigner, Charles G. Eberhart, Maryam Fouladi, Robert J. Wechsler-Reya, Claudia C. Faria, Sidney E. Croul, Annie Huang, Eric Bouffet, Cynthia E. Hawkins, Peter B. Dirks, William A. Weiss, Ulrich Schüller, Ian F. Pollack, Stefan Rutkowski, David Meyronet, Anne Jouvet, Michelle Fèvre-Montange, Nada Jabado, Marta Perek-Polnik, Wieslawa A. Grajkowska, Seung-Ki Kim, James T. Rutka, David Malkin, Uri Tabori, Stefan M. Pfister, Andrey Korshunov, Andreas von Deimling, Michael D. Taylor
Dátum:	2013
ISSN:	0001-6322
Megjegyzések:	Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought to describe these mutations and their impact in a subgroup-specific manner. We analyzed the TERT promoter by direct sequencing and genotyping in 466 medulloblastomas. The mutational distributions were determined according to subgroup affiliation, demographics, and clinical, prognostic, and molecular features. Integrated genomics approaches were used to identify specific somatic copy number alterations in TERT promoter-mutated and wild-type tumors. Overall, TERT promoter mutations were identified in 21 % of medulloblastomas. Strikingly, the highest frequencies of TERT mutations were observed in SHH (83 %; 55/66) and WNT (31 %; 4/13) medulloblastomas derived from adult patients. Group 3 and Group 4 harbored this alteration in <5 % of cases and showed no association with increased patient age. The prognostic implications of these mutations were highly subgroup-specific. TERT mutations identified a subset with good and poor prognosis in SHH and Group 4 tumors, respectively. Monosomy 6 was mostly restricted to WNT tumors without TERT mutations. Hallmark SHH focal copy number aberrations and chromosome 10q deletion were mutually exclusive with TERT mutations within SHH tumors. TERT promoter mutations are the most common recurrent somatic point mutation in medulloblastoma, and are very highly enriched in adult SHH and WNT tumors. TERT mutations define a subset of SHH medulloblastoma with distinct demographics, cytogenetics, and outcomes.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Acta Neuropathologica 126 : 6 (2013), p. 917-929. -
További szerzők:	Ramaswamy, Vijay Peacock, John Shih, David J. H. Koelsche, Christian Northcott, Paul A. Hill, Nadia Cavalli, Florence M. G. Kool, Marcel Wang, Xin Mack, Stephen Barszczyk, Mark Morrissy, Sorana Wu, Xiaochong Agnihotri, Sameer Luu, Betty Jones, David T. W. Garzia, Livia Dubuc, Adrian Zhukova, Nataliya Vanner, Robert Kros, Johan M. French, Pim J. van Meir, Erwin G. Vibhakar, Rajeev Zitterbart, Karel Chan, Jennifer A. Bognár László (1958-) (idegsebész, gyermekidegsebész) Klekner Álmos (1970-) (idegsebész) Lach, Boleslaw Jung, Shin Saad, Ali G. Liau, Linda M. Albrecht, Stephen Zollo, Massimo Cooper, Michael K. Thompson, Reid C. Delattre, Olivier Bourdeaut, Franck Doz, François F. Garami Miklós Hauser Péter Carlotti, Carlos G. van Meter, Timothy E. Massimi, Luca Fults, Daniel Pomeroy, Scott L. Kumabe, Toshihiro Shin Ra, Young Leonard, Jeffrey R. Elbabaa, Samer K. Mora, Jaume Rubin, Joshua B. Cho, Yoon-Jae McLendon, Roger E. Bigner, Darell Eberhart, Charles G. Fouladi, Maryam Wechsler-Reya, Robert J. Faria, Claudia C. Croul, Sidney E. Huang, Annie Bouffet, Eric Hawkins, Cynthia E. Dirks, Peter Weiss, William A. Schüller, Ulrich Pollack, Ian F. Rutkowski, Stefan Meyronet, David Jouvet, Anne Fèvre-Montange, Michelle Jabado, Nada Perek-Polnik, Marta Grajkowska, Wieslawa A. Kim, Seung-Ki Rutka, James T. Malkin, David Tabori, Uri Pfister, Stefan M. Korshunov, Andrey von Deimling, Andreas Taylor, Michael D.
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001-es BibID:	BIBFORM040150
Első szerző:	Schwartzentruber, Jeremy
Cím:	Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma / Schwartzentruber Jeremy, Korshunov Andrey, Liu Xiao-Yang, Jones David T. W. Pfaff Elke, Jacob Karine, Sturm Dominik, Fontebasso Adam M., Quang Dong-Anh Khuong, Tönjes Martje, Hovestadt Volker, Albrecht Steffen, Kool Marcel, Nantel Andre, Konermann Carolin, Lindroth Anders, Jäger Natalie, Rausch Tobias, Ryzhova Marina, Korbel Jan O., Hielscher Thomas, Hauser Peter, Garami Miklos, Klekner Almos, Bognar Laszlo, Ebinger Martin, Schuhmann Martin U., Scheurlen Wolfram, Pekrun Arnulf, Frühwald Michael C., Roggendorf Wolfgang, Kramm Christoph, Dürken Matthias, Atkinson Jeffrey, Lepage Pierre, Montpetit Alexandre, Zakrzewska Magdalena, Zakrzewski Krzystof, Liberski Pawel P., Dong Zhifeng, Siegel Peter, Kulozik Andreas E., Zapatka Marc, Guha Abhijit, Malkin David, Felsberg Jörg, Reifenberger Guido, von Deimling Andreas, Ichimura Koichi, Collins V. Peter, Witt Hendrik, Milde Till, Witt Olaf, Zhang Cindy, Castelo-Branco Pedro, Lichter Peter, Faury Damien, Tabori Uri, Plass Christoph, Majewski Jacek, Pfister Stefan M., Jabado Nada
Dátum:	2012
ISSN:	0028-0836
Tárgyszavak:	Orvostudományok Klinikai orvostudományok levél
Megjelenés:	Nature. - 482 : 7384 (2012), p. 226-231. -
További szerzők:	Korshunov, Andrey Liu, Xiao-Yang Jones, David T. W. Pfaff, Elke Jacob, Karine Sturm, Dominik Fontebasso, Adam M. Quang, Dong-Anh Khuong Tönjes, Martje Hovestadt, Volker Albrecht, Stephen Kool, Marcel Nantel, André Konermann, Carolin Lindroth, Anders Jäger, Natalie Rausch, Tobias Ryzhova, Marina Korbe, Jan O. Hielscher, Thomas Hauser, Peter Garami Miklós Klekner Álmos (1970-) (idegsebész) Bognár László (1958-) (idegsebész, gyermekidegsebész) Ebinger, Martin Schuhmann, Martin U. Scheurlen, Wolfram Pekrun, Arnulf Frühwald, Michael C. Roggendorf, Wolfgang Kramm, Christoph Dürken, Matthias Atkinson, Jeffrey Lepage, Pierre Montpetit, Alexandre Zakrzewska, Magdalena Zakrzewski, Krzystof Liberski, Pawel P. Dong, Zhifeng Siegel, Peter Kulozik, Andreas E. Zapatka, Marc Guha, Abhijit Malkin, David Felsberg, Jörg Reifenberger, Guido von Deimling, Andreas Ichimura, Koichi Collins, V. Peter Witt, Hendrik Milde, Till Witt, Olaf Zhang, Cindy Castelo-Branco, Pedro Lichter, Peter Faury, Damien Tabori, Uri Plass, Christoph Majewski, Jacek Pfister, Stefan M. Jabado, Nada
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001-es BibID:	BIBFORM040477
Első szerző:	Sturm, Dominik
Cím:	Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma / Dominik Sturm, Hendrik Witt, Volker Hovestadt, Dong-Anh Khuong-Quang, David T. W. Jones, Carolin Konermann, Elke Pfaff, Martje Tönjes, Martin Sill, Sebastian Bender, Marcel Kool, Marc Zapatka, Natalia Becker, Manuela Zucknick, Thomas Hielscher, Xiao-Yang Liu, Adam M. Fontebasso, Marina Ryzhova, Steffen Albrecht, Karine Jacob, Marietta Wolter, Martin Ebinger, Martin U. Schuhmann, Timothy van Meter, Michael C. Frühwald, Holger Hauch, Arnulf Pekrun, Bernhard Radlwimmer, Tim Niehues, Gregor von Komorowski, Matthias Dürken, Andreas E. Kulozik, Jenny Madden, Andrew Donson, Nicholas K. Foreman, Rachid Drissi, Maryam Fouladi, Wolfram Scheurlen, Andreas von Deimling, Camelia Monoranu, Wolfgang Roggendorf, Christel Herold-Mende, Andreas Unterberg, Christof M. Kramm, Jörg Felsberg, Christian Hartmann, Benedikt Wiestler, Wolfgang Wick, Till Milde, Olaf Witt, Anders M. Lindroth, Jeremy Schwartzentruber, Damien Faury, Adam Fleming, Magdalena Zakrzewska, Pawel P. Liberski, Krzysztof Zakrzewski, Peter Hauser, Miklos Garami, Almos Klekner, Laszlo Bognar, Sorana Morrissy, Florence Cavalli, Michael D. Taylor, Peter van Sluis, Jan Koster, Rogier Versteeg, Richard Volckmann, Tom Mikkelsen, Kenneth Aldape, Guido Reifenberger, V. Peter Collins, Jacek Majewski, Andrey Korshunov, Peter Lichter, Christoph Plass, Nada Jabado, Stefan M. Pfister
Dátum:	2012
ISSN:	1535-6108
Megjegyzések:	Glioblastoma (GBM) is a brain tumor that carries a dismal prognosis and displays considerable heterogeneity. We have recently identified recurrent H3F3A mutations affecting two critical amino acids (K27 and G34) of histone H3.3 in one-third of pediatric GBM. Here, we show that each H3F3A mutation defines an epigenetic subgroup of GBM with a distinct global methylation pattern, and that they are mutually exclusive with IDH1 mutations, which characterize a third mutation-defined subgroup. Three further epigenetic subgroups were enriched for hallmark genetic events of adult GBM and/or established transcriptomic signatures. We also demonstrate that the two H3F3A mutations give rise to GBMs in separate anatomic compartments, with differential regulation of transcription factors OLIG1, OLIG2, and FOXG1, possibly reflecting different cellular origins.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban külföldön készült közlemény
Megjelenés:	Cancer Cell. - 22 : 4 (2012), p. 425-437. -
További szerzők:	Witt, Hendrik Hovestadt, Volker Khuong-Quang, Dong-Anh Jones, David T. W. Konermann, Carolin Pfaff, Elke Tönjes, Martje Sill, Martin Bender, Sebastian Kool, Marcel Zapatka, Marc Becker, Natalia Zucknick, Manuela Hielscher, Thomas Liu, Xiao-Yang Fontebasso, Adam M. Ryzhova, Marina Albrecht, Stephen Jacob, Karine Wolter, Marietta Ebinger, Martin Schuhmann, Martin U. van Meter, Timothy E. Frühwald, Michael C. Hauch, Holger Pekrun, Arnulf Radlwimmer, Bernhard Niehues, Tim von Komorowski, Gregor Dürken, Matthias Kulozik, Andreas E. Madden, Jenny Donson, Andrew Foreman, Nicholas K. Drissi, Rachid Fouladi, Maryam Scheurlen, Wolfram von Deimling, Andreas Monoranu, Camelia Roggendorf, Wolfgang Herold-Mende, Christel Unterberg, Andreas Kramm, Christoph Felsberg, Jörg Hartmann, Christian Wiestler, Benedikt Wick, Wolfgang Milde, Till Witt, Olaf Lindroth, Anders Schwartzentruber, Jeremy Faury, Damien Fleming, Adam Zakrzewska, Magdalena Liberski, Pawel P. Zakrzewski, Krzystof Hauser Péter Garami Miklós Klekner Álmos (1970-) (idegsebész) Bognár László (1958-) (idegsebész, gyermekidegsebész) Morrissy, Sorana Cavalli, Florence Taylor, Michael D. van Sluis, Peter Koster, Jan Versteeg, Rogier Volckmann, Richard Mikkelsen, Tom Aldape, Kenneth Reifenberger, Guido Collins, V. Peter Majewski, Jacek Korshunov, Andrey Lichter, Peter Plass, Christoph Jabado, Nada Pfister, Stefan M.
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