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001-es BibID:	BIBFORM077121
Első szerző:	Cavalli, Florence M. G.
Cím:	Heterogeneity within the PF-EPN-B ependymoma subgroup / Florence M. G. Cavalli, Jens-Martin Hübner, Tanvi Sharma, Betty Luu, Martin Sill, Michal Zapotocky, Stephen C. Mack, Hendrik Witt, Tong Lin, David J. H. Shih, Ben Ho, Mariarita Santi, Lyndsey Emery, Juliette Hukin, Christopher Dunham, Roger E. McLendon, Eric S. Lipp, Sridharan Gururangan, Andrew Grossbach, Pim French, Johan M. Kros, Marie-Lise C. van Veelen, Amulya A. Nageswara Rao, Caterina Giannini, Sarah Leary, Shin Jung, Claudia C. Faria, Jaume Mora, Ulrich Schüller, Marta M. Alonso, Jennifer A. Chan, Almos Klekner, Lola B. Chambless, Eugene I. Hwang, Maura Massimino, Charles G. Eberhart, Matthias A. Karajannis, Benjamin Lu, Linda M. Liau, Massimo Zollo, Veronica Ferrucci, Carlos Carlotti, Daniela P. C. Tirapelli, Uri Tabori, Eric Bouffet, Marina Ryzhova, David W. Ellison, Thomas E. Merchant, Mark R. Gilbert, Terri S. Armstrong, Andrey Korshunov, Stefan M. Pfister, Michael D. Taylor, Kenneth Aldape, Kristian W. Pajtler, Marcel Kool, Vijay Ramaswamy
Dátum:	2018
Megjegyzések:	Posterior fossa ependymoma comprise three distinct molecular variants, termed PF-EPN-A (PFA), PF-EPN-B (PFB), and PF-EPN-SE (subependymoma). Clinically, they are very disparate and PFB tumors are currently being considered for a trial of radiation avoidance. However, to move forward, unraveling the heterogeneity within PFB would be highly desirable. To discern the molecular heterogeneity within PFB, we performed an integrated analysis consisting of DNA methylation profiling, copy-number profiling, gene expression profiling, and clinical correlation across a cohort of 212 primary posterior fossa PFB tumors. Unsupervised spectral clustering and t-SNE analysis of genome-wide methylation data revealed five distinct subtypes of PFB tumors, termed PFB1-5, with distinct demographics, copy-number alterations, and gene expression profiles. All PFB subtypes were distinct from PFA and posterior fossa subependymomas. Of the five subtypes, PFB4 and PFB5 are more discrete, consisting of younger and older patients, respectively, with a strong female-gender enrichment in PFB5 (age: p = 0.011, gender: p = 0.04). Broad copy-number aberrations were common; however, many events such as chromosome 2 loss, 5 gain, and 17 loss were enriched in specific subtypes and 1q gain was enriched in PFB1. Late relapses were common across all five subtypes, but deaths were uncommon and present in only two subtypes (PFB1 and PFB3). Unlike the case in PFA ependymoma, 1q gain was not a robust marker of poor progression-free survival; however, chromosome 13q loss may represent a novel marker for risk stratification across the spectrum of PFB subtypes. Similar to PFA ependymoma, there exists a significant intertumoral heterogeneity within PFB, with distinct molecular subtypes identified. Even when accounting for this heterogeneity, extent of resection remains the strongest predictor of poor outcome. However, this biological heterogeneity must be accounted for in future preclinical modeling and personalized therapies.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Acta Neuropathologica. - 136 : 2 (2018), p. 227-237. -
További szerzők:	Hübner, Jens-Martin Sharma, Tanvy Luu, Betty Sill, Martin Zapotocky, Michal Mack, Stephen Witt, Hendrik Lin, Tong Shih, David J. H. Ho, Ben Santi, Mariarita Emery, Lyndsey Hukin, Juliette Dunham, Christopher P. McLendon, Roger E. Lipp, Eric S. Gururangan, Sridharan Grossbach, Andrew French, Pim J. Kros, Johan M. van Veelen, Marie-Lise C. Rao, Amulya A. Nageswara Giannini, Caterina Leary, Sarah Jung, Shin Faria, Claudia C. Mora, Jaume Schüller, Ulrich Alonso, Marta M. Chan, Jennifer A. Klekner Álmos (1970-) (idegsebész) Chambless, Lola B. Hwang, Eugene Massimino, Maura Eberhart, Charles G. Karajannis, Matthias A. Lu, Benjamin Liau, Linda M. Zollo, Massimo Ferrucci, Veronica Carlotti, Carlos G. Tirapelli, Daniela P. C. Tabori, Uri Bouffet, Eric Ryzhova, Marina Ellison, David W. Merchant, Thomas E. Gilbert, Mark R. Armstrong, Terri S. Korshunov, Andrey Pfister, Stefan M. Taylor, Michael D. Aldape, Kenneth Pajtler, Kristian W. Kool, Marcel Ramaswamy, Vijay
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001-es BibID:	BIBFORM063631
Első szerző:	Ramaswamy, Vijay
Cím:	Therapeutic impact of cytoreductive surgery and irradiation of posterior fossa ependymoma in the molecular era : a retrospective multicohort analysis / Vijay Ramaswamy, Thomas Hielscher, Stephen C. Mack, Alvaro Lassaletta, Tong Lin, Kristian W. Pajtler, David T. W. Jones, Betty Luu, Florence M. G. Cavalli, Kenneth Aldape, Marc Remke, Martin Mynarek, Stefan Rutkowski, Sridharan Gururangan, Roger E. McLendon, Eric S. Lipp, Christopher Dunham, Juliette Hukin, David D. Eisenstat, Dorcas Fulton, Frank K.H. van Landeghem, Mariarita Santi, Marie-Lise C. van Veelen, Erwin G. Van Meir, Satoru Osuka, Xing Fan, Karin M. Muraszko, Daniela P. C. Tirapelli, Sueli M. Oba-Shinjo, Suely K. N. Marie, Carlos G. Carlotti, Ji Yeoun Lee, Amulya A. Nageswara Rao, Caterina Giannini, Claudia C. Faria, Sofia Nunes, Jaume Mora, Ronald L. Hamilton, Peter Hauser, Nada Jabado, Kevin Petrecca, Shin Jung, Luca Massimi, Massimo Zollo, Giuseppe Cinalli, Bognár László, Almos Klekner, Tibor Hortobágyi, Sarah Leary, Ralph P. Ermoian, James M. Olson, Jeffrey R. Leonard, Corrine Gardner, Wieslawa A. Grajkowska, Lola B. Chambless, Jason Cain, Charles G. Eberhart, Sama Ahsan, Maura Massimino, Felice Giangaspero, Francesca R. Buttarelli, Roger J. Packer, Lyndsey Emery, William H. Yong, Horacio Soto, Linda M. Liau, Richard Everson, Andrew Grossbach, Tarek Shalaby, Michael Grotzer, Matthias A. Karajannis, David Zagzag, Helen Wheeler, Katja von Hoff, Marta M. Alonso, Teresa Tunon, Ulrich Schüller, Karel Zitterbart, Jaroslav Sterba, Jennifer A. Chan, Miguel Guzman, Samer K. Elbabaa, Howard Colman, Girish Dhall, Paul G. Fisher, Maryam Fouladi, Amar Gajjar, Stewart Goldman, Eugene Hwang, Marcel Kool, Harshad Ladha, Elizabeth Vera-Bolanos, Khalida Wani, Frank Lieberman, Tom Mikkelsen, Antonio M. Omuro, Ian F. Pollack, Michael Prados, H. Ian Robins, Riccardo Soffietti, Jing Wu, Phillipe Metellus, Uri Tabori, Ute Bartels, Eric Bouffet, Cynthia E. Hawkins, James T. Rutka, Peter Dirks, Stefan M. Pfister, Thomas E. Merchant, Mark R. Gilbert, Terri S. Armstrong, Andrey Korshunov, David W. Ellison, Michael D. Taylor
Dátum:	2016
ISSN:	0368-2811
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Journal Of Clinical Oncology. - 34 : 21 (2016), p. 2468-2477. -
További szerzők:	Hielscher, Thomas Mack, Stephen Lassaletta, Alvaro Lin, Tong Pajtler, Kristian W. Jones, David T. W. Luu, Betty Cavalli, Florence M. G. Aldape, Kenneth Remke, Marc Mynarek, Martin Rutkowski, Stefan Gururangan, Sridharan McLendon, Roger E. Lipp, Eric S. Dunham, Christopher P. Hukin, Juliette Eisenstat, David D. Fulton, Dorcas van Landeghem, Frank K.H. Santi, Mariarita van Veelen, Marie-Lise C. van Meir, Erwin G. Osuka, Satoru Fan, Xing Muraszko, Karin M. Tirapelli, Daniela P. C. Oba-Shinjo, Sueli M. Marie, Suely K. N. Carlotti, Carlos G. Lee, Ji-Yeoun Rao, Amulya A. Nageswara Giannini, Caterina Faria, Claudia C. Nunes, Sofia Mora, Jaume Hamilton, Ronald L. Hauser Péter Jabado, Nada Petrecca, Kevin Jung, Shin Massimi, Luca Zollo, Massimo Cinalli, Giuseppe Bognár László (1958-) (idegsebész, gyermekidegsebész) Klekner Álmos (1970-) (idegsebész) Hortobágyi Tibor (1965-) (patológus) Leary, Sarah Ermoian, Ralph P. Olson, James M. Leonard, Jeffrey R. Gardner, Corrine Grajkowska, Wieslawa A. Chambless, Lola B. Cain, Jason Eberhart, Charles G. Ahsan, Sama Massimino, Maura Giangaspero, Felice Buttarelli, Francesca R. Packer, Roger J. Emery, Lyndsey Yong, William H. Soto, Horacio Liau, Linda M. Everson, Richard B. Grossbach, Andrew Shalaby, Tarek Grotzer, Michael Karajannis, Matthias A. Zagzag, David Wheeler, Helen von Hoff, Katja Alonso, Marta M. Tunon, Teresa Schüller, Ulrich Zitterbart, Karel Sterba, Jaroslav Chan, Jennifer A. Guzman, Miguel Elbabaa, Samer K. Colman, Howard Dhall, Girish Fisher, Paul G. Fouladi, Maryam Gajjar, Amar Goldman, Stewart Hwang, Eugene Kool, Marcel Ladha, Harshad Vera-Bolanos, Elizabeth Wani, Khalida Lieberman, Frank Mikkelsen, Tom Omuro, Antonio M. Pollack, Ian F. Prados, Michael D. Robins, H. Ian Soffietti, Riccardo Wu, Jing Metellus, Phillipe Tabori, Uri Bartels, Ute Bouffet, Eric Hawkins, Cynthia E. Rutka, James T. Dirks, Peter Pfister, Stefan M. Merchant, Thomas E. Gilbert, Mark R. Armstrong, Terri S. Korshunov, Andrey Ellison, David W. Taylor, Michael D.
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat
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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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