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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.
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