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1.

001-es BibID:BIBFORM089591
035-os BibID:(WoS)000597929400015 (Scopus)85097741684
Első szerző:Chen, Carol C. L.
Cím:Histone H3.3G34-Mutant Interneuron Progenitors Co-opt PDGFRA for Gliomagenesis / Chen Carol C. L., Deshmukh Shriya, Jessa Selin, Hadjadj Djihad, Lisi Véronique, Andrade Augusto Faria, Faury Damien, Jawhar Wajih, Dali Rola, Suzuki Hiromichi, Pathania Manav, A Deli, Dubois Frank, Woodward Eleanor, Hébert Steven, Coutelier Marie, Karamchandani Jason, Albrecht Steffen, Brandner Sebastian, De Jay Nicolas, Gayden Tenzin, Bajic Andrea, Harutyunyan Ashot S., Marchione Dylan M., Mikael Leonie G., Juretic Nikoleta, Zeinieh Michele, Russo Caterina, Maestro Nicola, Bassenden Angelia V., Hauser Peter, Virga József, Bognar Laszlo, Klekner Almos, Zapotocky Michal, Vicha Ales, Krskova Lenka, Vanova Katerina, Zamecnik Josef, Sumerauer David, Ekert Paul G., Ziegler David S., Ellezam Benjamin, Filbin Mariella G., Blanchette Mathieu, Hansford Jordan R., Khuong-Quang Dong-Anh, Berghuis Albert M., Weil Alexander G., Garcia Benjamin A., Garzia Livia, Mack Stephen C., Beroukhim Rameen, Ligon Keith L., Taylor Michael D., Bandopadhayay Pratiti, Kramm Christoph, Pfister Stefan M., Korshunov Andrey, Sturm Dominik, Jones David T. W., Salomoni Paolo, Kleinman Claudia L., Jabado Nada
Dátum:2020
ISSN:0092-8674
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Cell. - 183 (2020), p. 1617-1633.e22. -
További szerzők:Deshmukh, Shriya Jessa, Selin Hadjadj, Djihad Lisi, Véronique Andrade, Augusto Faria Faury, Damien Jawhar, Wajih Dali, Rola Suzuki, Hiromichi Pathania, Manav A, Deli Dubois, Frank Woodward, Eleanor Hébert, Steven Coutelier, Marie Karamchandani, Jason Albrecht, Stephen Brandner, Sebastian De Jay, Nicolas Gayden, Tenzin Bajic, Andrea Harutyunyan, Ashot S. Marchione, Dylan M. Mikael, Leonie G. Juretic, Nikoleta Zeinieh, Michele Russo, Caterina Maestro, Nicola Bassenden, Angelia V. Hauser, Peter Virga József (1989-) Bognár László (1958-) (idegsebész, gyermekidegsebész) Klekner Álmos (1970-) (idegsebész) Zapotocky, Michal Vicha, Ales Krskova, Lenka Vanova, Katerina Zamecnik, Josef Sumerauer, David Ekert, Paul G. Ziegler, David S. Ellezam, Benjamin Filbin, Mariella G. Blanchette, Mathieu Hansford, Jordan R. Khuong-Quang, Dong-Anh Berghuis, Albert M. Weil, Alexander G. Garcia, Benjamin A. Garzia, Livia Mack, Stephen Beroukhim, Rameen Ligon, Keith L. Taylor, Michael D. Bandopadhayay, Pratiti Kramm, Christoph Pfister, Stefan M. Korshunov, Andrey Sturm, Dominik Jones, David T. W. Salomoni, Paolo Kleinman, Claudia L. Jabado, Nada
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2.

001-es BibID:BIBFORM062336
Első szerző:Fontebasso, Adam M.
Cím:Non-random aneuploidy specifies subgroups of pilocytic astrocytoma and correlates with older age / Adam M. Fontebasso, Margret Shirinian, Dong-Anh Khuong-Quang, Denise Bechet, Tenzin Gayden, Marcel Kool, Nicolas De Jay, Karine Jacob, Noha Gerges, Barbara Hutter, Huriye Şeker-Cin, Hendrik Witt, Alexandre Montpetit, Sébastien Brunet, Pierre Lepage, Geneviève Bourret, Almos Klekner, László Bognár, Peter Hauser, Miklós Garami, Jean-Pierre Farmer, Jose-Luis Montes, Jeffrey Atkinson, Sally Lambert, Tony Kwan, Andrey Korshunov, Uri Tabori, V. Peter Collins, Steffen Albrecht, Damien Faury, Stefan M. Pfister, Werner Paulus, Martin Hasselblatt, David T. W. Jones, Nada Jabado
Dátum:2015
ISSN:1949-2553
Megjegyzések:Pilocytic astrocytoma (PA) is the most common brain tumor in children but israre in adults, and hence poorly studied in this age group. We investigated 222 PA andreport increased aneuploidy in older patients. Aneuploid genomes were identified in45% of adult compared with 17% of pediatric PA. Gains were non-random, favoringchromosomes 5, 7, 6 and 11 in order of frequency, and preferentially affecting noncerebellarPA and tumors with BRAF V600E mutations and not with KIAA1549-BRAFfusions or FGFR1 mutations. Aneuploid PA differentially expressed genes involved inCNS development, the unfolded protein response, and regulators of genomic stabilityand the cell cycle (MDM2, PLK2), whose correlated programs were overexpressedspecifically in aneuploid PA compared to other glial tumors. Thus, convergence of pathways affecting the cell cycle and genomic stability may favor aneuploidy in PA, possiblyrepresenting an additional molecular driver in older patients with this brain tumor.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
pilocytic astrocytoma
aneuploidy
BRAF
MDM2
PLK2
Megjelenés:Oncotarget. - 6 : 31 (2015), p. 31844-31856. -
További szerzők:Shirinian, Margret Khuong-Quang, Dong-Anh Bechet, Denise Gayden, Tenzin Kool, Marcel De Jay, Nicolas Jacob, Karine Gerges, Noha Hutter, Barbara Şeker-Cin, Huriye Witt, Hendrik Montpetit, Alexandre Brunet, Sébastien Lepage, Pierre Bourret, Geneviève Klekner Álmos (1970-) (idegsebész) Bognár László (1958-) (idegsebész, gyermekidegsebész) Hauser Péter Garami Miklós Farmer, Jean-Pierre Montes, Jose-Luis Atkinson, Jeffrey Lambert, Sally Kwan, Tony Korshunov, Andrey Tabori, Uri Collins, V. Peter Albrecht, Stephen Faury, Damien Pfister, Stefan M. Paulus, Werner Hasselblatt, Martin Jones, David T. W. Jabado, Nada
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3.

001-es BibID:BIBFORM058402
Első szerző:Fontebasso, Adam M.
Cím:Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas / Adam M. Fontebasso, Jeremy Schwartzentruber, Dong-Anh Khuong-Quang, Xiao-Yang Liu, Dominik Sturm, Andrey Korshunov, David T. W. Jones, Hendrik Witt, Marcel Kool, Steffen Albrecht, Adam Fleming, Djihad Hadjadj, Stephan Busche, Pierre Lepage, Alexandre Montpetit, Alfredo Staffa, Noha Gerges, Magdalena Zakrzewska, Krzystof Zakrzewski, Pawel P. Liberski, Peter Hauser, Miklos Garami, Almos Klekner, Laszlo Bognar, Gelareh Zadeh, Damien Faury, Stefan M. Pfister, Nada Jabado, Jacek Majewski
Dátum:2013
ISSN:0001-6322
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Acta Neuropathologica. - 125 : 5 (2013), p. 659-669. -
További szerzők:Schwartzentruber, Jeremy Khuong-Quang, Dong-Anh Liu, Xiao-Yang Sturm, Dominik Korshunov, Andrey Jones, David T. W. Witt, Hendrik Kool, Marcel Albrecht, Stephen Fleming, Adam Hadjadj, Djihad Busche, Stephan Lepage, Pierre Montpetit, Alexandre Staffa, Alfredo Gerges, Noha Zakrzewska, Magdalena Zakrzewski, Krzystof Liberski, Pawel P. Hauser, Peter Garami Miklós Klekner Álmos (1970-) (idegsebész) Bognár László (1958-) (idegsebész, gyermekidegsebész) Zadeh, Gelareh Faury, Damien Pfister, Stefan M. Jabado, Nada Majewski, Jacek
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4.

001-es BibID:BIBFORM052711
035-os BibID:WOS:000335422900012
Első szerző:Fontebasso, Adam M.
Cím:Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma / Adam M. Fontebasso, Simon Papillon-Cavanagh, Jeremy Schwartzentruber, Hamid Nikbakht, Noha Gerges, Pierre-Olivier Fiset, Denise Bechet, Damien Faury, Nicolas De Jay, Lori A. Ramkissoon, Aoife Corcoran, David T. W. Jones, Dominik Sturm, Pascal Johann, Tadanori Tomita, Stewart Goldman, Mahmoud Nagib, Anne Bendel, Liliana Goumnerova, Daniel C. Bowers, Jeffrey R. Leonard, Joshua B. Rubin, Tord Alden, Samuel Browd, J. Russell Geyer, Sarah Leary, George Jallo, Kenneth Cohen, Nalin Gupta, Michael D. Prados, Anne-Sophie Carret, Benjamin Ellezam, Louis Crevier, Almos Klekner, Laszlo Bognar, Peter Hauser, Miklos Garami, John Myseros, Zhifeng Dong, Peter M. Siegel, Hayley Malkin, Azra H. Ligon, Steffen Albrecht, Stefan M. Pfister, Keith L. Ligon, Jacek Majewski, Nada Jabado, Mark W. Kieran
Dátum:2014
ISSN:1061-4036
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Nature Genetics. - 46 : 5 (2014), p. 462-466. -
További szerzők:Papillon-Cavanagh, Simon Schwartzentruber, Jeremy Nikbakht, Hamid Gerges, Noha Fiset, Pierre-Olivier Bechet, Denise Faury, Damien De Jay, Nicolas Ramkissoon, Lori A. Corcoran, Aoife Jones, David T. W. Sturm, Dominik Johann, Pascal Tomita, Tadanori Goldman, Stewart Nagib, Mahmoud Bendel, Anne Goumnerova, Liliana Bowers, Daniel C. Leonard, Jeffrey R. Rubin, Joshua B. Alden, Tord Browd, Samuel Geyer, J. Russell Leary, Sarah Jallo, George I. Cohen, Kenneth Gupta, Nalin Prados, Michael D. Carret, Anne-Sophie Ellezam, Benjamin Crevier, Louis Klekner Álmos (1970-) (idegsebész) Bognár László (1958-) (idegsebész, gyermekidegsebész) Hauser Péter Garami Miklós Myseros, John Dong, Zhifeng Siegel, Peter Malkin, Hayley Ligon, Azra H. Albrecht, Stephen Pfister, Stefan M. Ligon, Keith L. Majewski, Jacek Jabado, Nada Kieran, Mark W.
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5.

001-es BibID:BIBFORM040147
Első szerző:Jacob, Karine
Cím:Genetic Aberrations Leading to MAPK Pathway Activation Mediate Oncogene-Induced Senescence in Sporadic Pilocytic Astrocytomas / Jacob, K., Quang-Khuong, D.-A., Jones, D. T. W., Witt, H., Lambert, S., Albrecht, S., Witt, O., Vezina, C., Shirinian, M., Faury, D., Garami, M., Hauser, P., Klekner, A., Bognar, L., Farmer, J.-P., Montes, J.-L., Atkinson, J., Hawkins, C., Korshunov, A., Collins, V. P., Pfister, S. M., Tabori, U., Jabado, N.
Dátum:2011
ISSN:1078-0432
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Clinical Cancer Research. - 17 : 14 (2011), p. 4650-4660. -
További szerzők:Quang-Khuong, D.-A. Jones, David T. W. Witt, Hendrik Lambert, Sally Albrecht, Stephen Witt, Olaf Vezina, C. Shirinian, Margret Faury, Damien Garami Miklós Hauser Péter Klekner Álmos (1970-) (idegsebész) Bognár László (1958-) (idegsebész, gyermekidegsebész) Farmer, Jean-Pierre Montes, Jose-Luis Atkinson, J. Hawkins, Cynthia E. Korshunov, Andrey Collins, V. Peter Pfister, Stefan M. Tabori, Uri Jabado, Nada
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6.

001-es BibID:BIBFORM040478
Első szerző:Northcott, Paul A.
Cím:Subgroup-specific structural variation across 1,000 medulloblastoma genomes / Paul A. Northcott, David J. H. Shih, John Peacock, Livia Garzia, A. Sorana Morrissy, Thomas Zichner, Adrian M. Stütz, Andrey Korshunov, Jüri Reimand, Steven E. Schumacher, Rameen Beroukhim, David W. Ellison, Christian R. Marshall, Anath C. Lionel, Stephen Mack, Adrian Dubuc, Yuan Yao, Vijay Ramaswamy, Betty Luu, Adi Rolider, Florence M. G. Cavalli, Xin Wang, Marc Remke, Xiaochong Wu, Readman Y. B. Chiu, Andy Chu, Eric Chuah, Richard D. Corbett, Gemma R. Hoad, Shaun D. Jackman, Yisu Li, Allan Lo, Karen L. Mungall, Ka Ming Nip, Jenny Q. Qian, Anthony G. J. Raymond, Nina Thiessen, Richard J. Varhol, Inanc Birol, Richard A. Moore, Andrew J. Mungall, Robert Holt, Daisuke Kawauchi, Martine F. Roussel, Marcel Kool, David T. W. Jones, Hendrick Witt, Africa Fernandez-L, Anna M. Kenney, Robert J. Wechsler-Reya, Peter Dirks, Tzvi Aviv, Wieslawa A. Grajkowska, Marta Perek-Polnik, Christine C. Haberler, Olivier Delattre, Stéphanie S. Reynaud, François F. Doz, Sarah S. Pernet-Fattet, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Wolfram Scheurlen, Charles G. Eberhart, Michelle Févre-Montange, Anne Jouvet, Ian F. Pollack, Xing Fan, Karin M. Muraszko, G. Yancey Gillespie, Concezio Di Rocco, Luca Massimi, Erna M. C. Michiels, Nanne K. Kloosterhof, Pim J. French, Johan M. Kros, James M. Olson, Richard G. Ellenbogen, Karel Zitterbart, Leos Kren, Reid C. Thompson, Michael K. Cooper, Boleslaw Lach, Roger E. McLendon, Darell D. Bigner, Adam Fontebasso, Steffen Albrecht, Nada Jabado, Janet C. Lindsey, Simon Bailey, Nalin Gupta, William A. Weiss, László Bognár, Almos Klekner, Timothy E. Van Meter, Toshihiro Kumabe, Teiji Tominaga, Samer K. Elbabaa, Jeffrey R. Leonard, Joshua B. Rubin, Linda M. Liau, Erwin G. Van Meir, Maryam Fouladi, Hideo Nakamura, Giuseppe Cinalli, Miklós Garami, Peter Hauser, Ali G. Saad, Achille Iolascon, Shin Jung, Carlos G. Carlotti, Rajeev Vibhakar, Young Shin Ra, Shenandoah Robinson, Massimo Zollo, Claudia C. Faria, Jennifer A. Chan, Michael L. Levy, Poul H. B. Sorensen, Matthew Meyerson, Scott L. Pomeroy, Yoon-Jae Cho, Gary D. Bader, Uri Tabori, Cynthia E. Hawkins, Eric Bouffet, Stephen W. Scherer, James T. Rutka, David Malkin, Steven C. Clifford, Steven J. M. Jones, Jan O. Korbe, Stefan M. Pfister, Marco A. Marra, Michael D. Taylor
Dátum:2012
ISSN:0028-0836
Megjegyzések:Medulloblastoma, the most common malignant paediatric brain tumour, is currently treated with nonspecific cytotoxic therapies including surgery, whole-brain radiation, and aggressive chemotherapy. As medulloblastoma exhibits marked intertumoural heterogeneity, with at least four distinct molecular variants, previous attempts to identify targets for therapy have been underpowered because of small samples sizes. Here we report somatic copy number aberrations (SCNAs) in 1,087 unique medulloblastomas. SCNAs are common in medulloblastoma, and are predominantly subgroup-enriched. The most common region of focal copy number gain is a tandem duplication of SNCAIP, a gene associated with Parkinson's disease, which is exquisitely restricted to Group 4?. Recurrent translocations of PVT1, including PVT1-MYC and PVT1-NDRG1, that arise through chromothripsis are restricted to Group 3. Numerous targetable SCNAs, including recurrent events targeting TGF-? signalling in Group 3, and NF-?B signalling in Group 4, suggest future avenues for rational, targeted therapy.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
külföldön készült közlemény
Megjelenés:Nature. - 488 : 7409 (2012), p. 49-56. -
További szerzők:Shih, David J. H. Peacock, John Garzia, Livia Sorana Morrissy, A. Zichner, Thomas Stütz, Adrian M. Korshunov, Andrey Reimand, Jüri Schumacher, Steven E. Beroukhim, Rameen Ellison, David W. Marshall, Christian R. Lionel, Anath C. Mack, Stephen Dubuc, Adrian Yao, Yuan Ramaswamy, Vijay Luu, Betty Rolider, Adi Cavalli, Florence M. G. Wang, Xin Remke, Marc Wu, Xiaochong Chiu, Readman Y. B. Chu, Andy Chuah, Eric Corbett, Richard D. Hoad, Gemma R. Jackman, Shaun D. Li, Yisu Lo, Allan Mungall, Karen L. Ming Nip, Ka Qian, Jenny Q. Raymond, Anthony G. J. Thiessen, Nina Varhol, Richard J. Birol, Inanc Moore, Richard A. Mungall, Andrew J. Holt, Robert Kawauchi, Daisuke Roussel, Martine F. Kool, Marcel Jones, David T. W. Witt, Hendrik Fernandez-L, Africa Kenney, Anna M. Wechsler-Reya, Robert J. Dirks, Peter Aviv, Tzvi Grajkowska, Wieslawa A. Perek-Polnik, Marta Haberler, Christine Delattre, Olivier Reynaud, Stéphanie S. Doz, François F. Pernet-Fattet, Sarah S. Cho, Byung-Kyu Kim, Seung-Ki Wang, Kyu-Chang Scheurlen, Wolfram Eberhart, Charles G. Fèvre-Montange, Michelle Jouvet, Anne Pollack, Ian F. Fan, Xing Muraszko, Karin M. Yancey Gillespie, G. Di Rocco, Concezio Massimi, Luca Michiels, Erna M. C. Kloosterhof, Nanne K. French, Pim J. Kros, Johan M. Olson, James M. Ellenbogen, Richard G. Zitterbart, Karel Kren, Leos Thompson, Reid C. Cooper, Michael K. Lach, Boleslaw McLendon, Roger E. Bigner, Darell Fontebasso, Adam M. Albrecht, Stephen Jabado, Nada Lindsey, Janet C. Bailey, Simon Gupta, Nalin Weiss, William A. Bognár László (1958-) (idegsebész, gyermekidegsebész) Klekner Álmos (1970-) (idegsebész) van Meter, Timothy E. Kumabe, Toshihiro Tominaga, Teiji Elbabaa, Samer K. Leonard, Jeffrey R. Rubin, Joshua B. Liau, Linda M. van Meir, Erwin G. Fouladi, Maryam Nakamura, Hideo Cinalli, Giuseppe Garami Miklós Hauser, Peter Saad, Ali G. Iolascon, Achille Jung, Shin Carlotti, Carlos G. Vibhakar, Rajeev Shin Ra, Young Robinson, Shenandoah Zollo, Massimo Faria, Claudia C. Chan, Jennifer A. Levy, Michael L. Sorensen, Poul H. B. Meyerson, Matthew Pomeroy, Scott L. Cho, Yoon-Jae Bader, Gary D. Tabori, Uri Hawkins, Cynthia E. Bouffet, Eric Scherer, Stephen W. Rutka, James T. Malkin, David Clifford, Steven C. Jones, Steven J. M. Korbe, Jan O. Pfister, Stefan M. Marra, Marco A. Taylor, Michael D.
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7.

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.
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8.

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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9.

001-es BibID:BIBFORM040146
Első szerző:Ryan, Sarra L.
Cím:MYC family amplification and clinical risk-factors interact to predict an extremely poor prognosis in childhood medulloblastoma / Ryan Sarra L., Schwalbe Ed C., Cole Michael, Lu Yuan, Lusher Meryl E., Megahed Hisham, O'Toole Kieran, Nicholson Sarah Leigh, Bognar Laszlo, Garami Miklos, Hauser Peter, Korshunov Andrey, Pfister Stefan M., Williamson Daniel, Taylor Roger E., Ellison David W., Bailey Simon, Clifford Steven C.
Dátum:2012
ISSN:0001-6322
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Acta Neuropathologica. - 123 : 4 (2012), p. 501-513. -
További szerzők:Schwalbe, Ed C. Cole, Michael Lu, Yuan Lusher, Meryl E. Megahed, Hisham O'Toole, Kieran Nicholson, Sarah Leigh Bognár László (1958-) (idegsebész, gyermekidegsebész) Garami Miklós Hauser, Peter Korshunov, Andrey Pfister, Stefan M. Williamson, Daniel Taylor, Roger E. Ellison, David W. Bailey, Simon Clifford, Steven C.
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10.

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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11.

001-es BibID:BIBFORM052715
Első szerző:Shih, David J. H.
Cím:Cytogenetic prognostication within medulloblastoma subgroups / David J. H. Shih, Paul A. Northcott, Marc Remke, Andrey Korshunov, Vijay Ramaswamy, Marcel Kool, Betty Luu, Yuan Yao, Xin Wang, Adrian M. Dubuc, Livia Garzia, John Peacock, Stephen C. Mack, Xiaochong Wu, Adi Rolider, A. Sorana Morrissy, Florence M. G. Cavalli, David T. W. Jones, Karel Zitterbart, Claudia C. Faria, Ulrich Schüller, Leos Kren, Toshihiro Kumabe, Teiji Tominaga, Young Shin Ra, Miklós Garami, Peter Hauser, Jennifer A. Chan, Shenandoah Robinson, László Bognár, Almos Klekner, Ali G. Saad, Linda M. Liau, Steffen Albrecht, Adam Fontebasso, Giuseppe Cinalli, Pasqualino De Antonellis, Massimo Zollo, Michael K. Cooper, Reid C. Thompson, Simon Bailey, Janet C. Lindsey, Concezio Di Rocco, Luca Massimi, Erna M. C. Michiels, Stephen W. Scherer, Joanna J. Phillips, Nalin Gupta, Xing Fan, Karin M. Muraszko, Rajeev Vibhakar, Charles G. Eberhart, Maryam Fouladi, Boleslaw Lach, Shin Jung, Robert J. Wechsler-Reya, Michelle Fèvre-Montange, Anne Jouvet, Nada Jabado, Ian F. Pollack, William A. Weiss, Ji-Yeoun Lee, Byung-Kyu Cho, Seung-Ki Kim, Kyu-Chang Wang, Jeffrey R. Leonard, Joshua B. Rubin, Carmen de Torres, Cinzia Lavarino, Jaume Mora, Yoon-Jae Cho, Uri Tabori, James M. Olson, Amar Gajjar, Roger J. Packer, Stefan Rutkowski, Scott L. Pomeroy, Pim J. French, Nanne K. Kloosterhof, Johan M. Kros, Erwin G. Van Meir, Steven C. Clifford, Franck Bourdeaut, Olivier Delattre, François F. Doz, Cynthia E. Hawkins, David Malkin, Wieslawa A. Grajkowska, Marta Perek-Polnik, Eric Bouffet, James T. Rutka, Stefan M. Pfister, Michael D. Taylor
Dátum:2014
ISSN:0732-183X 1527-7755
Megjegyzések:Purpose Medulloblastoma comprises four distinct molecular subgroups: WNT, SHH, Group 3, and Group 4. Current medulloblastoma protocols stratify patients based on clinical features: patient age, metastatic stage, extent of resection, and histologic variant. Stark prognostic and genetic differences among the four subgroups suggest that subgroup-specific molecular biomarkers could improve patient prognostication.Patients and Methods Molecular biomarkers were identified from a discovery set of 673 medulloblastomas from 43 cities around the world. Combined risk stratification models were designed based on clinical and cytogenetic biomarkers identified by multivariable Cox proportional hazards analyses. Identified biomarkers were tested using fluorescent in situ hybridization (FISH) on a nonoverlapping medulloblastoma tissue microarray (n = 453), with subsequent validation of the risk stratification models.Results Subgroup information improves the predictive accuracy of a multivariable survival model compared with clinical biomarkers alone. Most previously published cytogenetic biomarkers are only prognostic within a single medulloblastoma subgroup. Profiling six FISH biomarkers (GLI2, MYC, chromosome 11 [chr11], chr14, 17p, and 17q) on formalin-fixed paraffin-embedded tissues, we can reliably and reproducibly identify very low-risk and very high-risk patients within SHH, Group 3, and Group 4 medulloblastomas.Conclusion Combining subgroup and cytogenetic biomarkers with established clinical biomarkers substantially improves patient prognostication, even in the context of heterogeneous clinical therapies. The prognostic significance of most molecular biomarkers is restricted to a specific subgroup. We have identified a small panel of cytogenetic biomarkers that reliably identifies very high-risk and very low-risk groups of patients, making it an excellent tool for selecting patients for therapy intensification and therapy de-escalation in future clinical trials.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Journal of Clinical Oncology. - 32 : 9 (2014), p. 886-896. -
További szerzők:Northcott, Paul A. Remke, Marc Korshunov, Andrey Ramaswamy, Vijay Kool, Marcel Luu, Betty Yao, Yuan Wang, Xin Dubuc, Adrian Garzia, Livia Peacock, John Mack, Stephen Wu, Xiaochong Rolider, Adi Morrissy, Sorana Cavalli, Florence M. G. Jones, David T. W. Zitterbart, Karel Faria, Claudia C. Schüller, Ulrich Kren, Leos Kumabe, Toshihiro Tominaga, Teiji Shin Ra, Young Garami Miklós Hauser, Peter Chan, Jennifer A. Robinson, Shenandoah Bognár László (1958-) (idegsebész, gyermekidegsebész) Klekner Álmos (1970-) (idegsebész) Saad, Ali G. Liau, Linda M. Albrecht, Stephen Fontebasso, Adam M. Cinalli, Giuseppe De Antonellis, Pasqualino Zollo, Massimo Cooper, Michael K. Thompson, Reid C. Bailey, Simon Lindsey, Janet C. Di Rocco, Concezio Massimi, Luca Michiels, Erna M. C. Scherer, Stephen W. Phillips, Joanna J. Gupta, Nalin Fan, Xing Muraszko, Karin M. Vibhakar, Rajeev Eberhart, Charles G. Fouladi, Maryam Lach, Boleslaw Jung, Shin Wechsler-Reya, Robert J. Fèvre-Montange, Michelle Jouvet, Anne Jabado, Nada Pollack, Ian F. Weiss, William A. Lee, Ji-Yeoun Cho, Byung-Kyu Kim, Seung-Ki Wang, Kyu-Chang Leonard, Jeffrey R. Rubin, Joshua B. Torres, Carmen, de Lavarino, Cinzia Mora, Jaume Cho, Yoon-Jae Tabori, Uri Olson, James M. Gajjar, Amar Packer, Roger J. Rutkowski, Stefan Pomeroy, Scott L. French, Pim J. Kloosterhof, Nanne K. Kros, Johan M. van Meir, Erwin G. Clifford, Steven C. Bourdeaut, Franck Delattre, Olivier Doz, François F. Hawkins, Cynthia E. Malkin, David Grajkowska, Wieslawa A. Perek-Polnik, Marta Bouffet, Eric Rutka, James T. Pfister, Stefan M. Taylor, Michael D.
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12.

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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