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1.
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
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
2.
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
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
3.
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.
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
4.
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
Borító:
Saját polcon:
5.
001-es BibID:
BIBFORM052708
035-os BibID:
(Scopus)84892621211 (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.
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:
6.
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.
Internet cím:
Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
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