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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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2.

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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