Journal ArticleDOI
The Genetics of Pediatric Brain Tumors
Adrian M. Dubuc,Adrian M. Dubuc,Paul A. Northcott,Paul A. Northcott,Stephen C. Mack,Stephen C. Mack,Hendrik Witt,Hendrik Witt,Stefan M. Pfister,Stefan M. Pfister,Michael D. Taylor,Michael D. Taylor +11 more
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TLDR
This review summarizes the current state of knowledge, emphasizes recent seminal findings in the field, and proposes future research efforts needed to further characterize the genetic basis of pediatric brain tumors.Abstract:
Brain tumors are the most common childhood solid malignancy and the leading cause of cancer-related death in children. Medulloblastoma, ependymoma, supratentorial primitive neuroectodermal tumors, and pilocytic astrocytoma are the most prevalent types, all of which are clinically, histologically, and genetically heterogeneous. Despite an incomplete molecular understanding of these tumors, we have made significant headway in the past 5 years in identifying and classifying important genetic alterations and pathways central to the disease process. This review summarizes our current state of knowledge, emphasizes recent seminal findings in the field, and proposes future research efforts needed to further characterize the genetic basis of pediatric brain tumors.read more
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Journal ArticleDOI
Cytogenetic Prognostication Within Medulloblastoma Subgroups
David 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,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 M. 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 Doz,François Doz,Cynthia Hawkins,David Malkin,Wiesława Grajkowska,Marta Perek-Polnik,Eric Bouffet,James T. Rutka,Stefan M. Pfister,Stefan M. Pfister,Michael D. Taylor +95 more
TL;DR: A small panel of cytogenetic biomarkers is identified 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.
Journal ArticleDOI
Long-term epilepsy-associated tumors.
TL;DR: Establishing the epileptogenic components of LEAT will elucidate the cellular mechanisms of epileptogenesis, which in turn will guide optimal surgical management of these lesions.
Journal ArticleDOI
Molecular subgroups of medulloblastoma
TL;DR: A summary of recent studies that have contributed to the understanding of the core medulloblastoma subgroups is presented, focusing largely on clinically relevant discoveries that have already, and will continue to, shape research.
Journal ArticleDOI
TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma
Marc Remke,Vijaj Ramaswamy,John Peacock,David Shih,Christian Koelsche,Christian Koelsche,Paul A. Northcott,Nadia Hill,Florence M.G. Cavalli,Marcel Kool,Xin Wang,Stephen C. Mack,Mark Barszczyk,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,Olivier Delattre,Franck Bourdeaut,François Doz,Miklós Garami,Peter Hauser,Carlos Gilberto Carlotti,Timothy E. Van Meter,Luca Massimi,Daniel W. 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,Claudia C. Faria,Sidney Croul,Annie Huang,Eric Bouffet,Cynthia 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,Wiesława Grajkowska,Seungki-Ki Kim,James T. Rutka,David Malkin,Uri Tabori,Stefan M. Pfister,Stefan M. Pfister,Andrey Korshunov,Andrey Korshunov,Andreas von Deimling,Andreas von Deimling,Michael D. Taylor +87 more
TL;DR: TERT mutations define a subset of SHH medulloblastoma with distinct demographics, cytogenetics, and outcomes, and are very highly enriched in adult SHH and WNT tumors.
Journal ArticleDOI
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,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 van Landeghem,Mariarita Santi,Marie Lise C. van Veelen,Erwin G. Van Meir,Satoru Osuka,Xing Fan,Karin M. Muraszko,Daniela Pretti da Cunha Tirapelli,Sueli Mieko Oba-Shinjo,Suely Kazue Nagahashi Marie,Carlos Gilberto 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,László Bognár,Almos Klekner,Tibor Hortobágyi,Sarah Leary,Sarah Leary,Sarah Leary,Ralph P. Ermoian,Ralph P. Ermoian,Ralph P. Ermoian,James M. Olson,James M. Olson,James M. Olson,Jeffrey R. Leonard,Corrine Gardner,Wiesława Grajkowska,Lola B. Chambless,Jason E. 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 J. Grossbach,Tarek Shalaby,Michael A. Grotzer,Matthias A. Karajannis,David Zagzag,Helen Wheeler,Katja von Hoff,Marta M. Alonso,Teresa Tuñón,Ulrich Schüller,Karel Zitterbart,Jaroslav Sterba,Jennifer A. Chan,Miguel A. 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 S. Lieberman,Tom Mikkelsen,Antonio Omuro,Ian F. Pollack,Michael D. Prados,H. Ian Robins,Riccardo Soffietti,Jing Wu,Phillipe Metellus,Uri Tabori,Ute Bartels,Eric Bouffet,Cynthia Hawkins,James T. Rutka,Peter B. Dirks,Stefan M. Pfister,Stefan M. Pfister,Thomas E. Merchant,Mark R. Gilbert,Mark R. Gilbert,Terri S. Armstrong,Andrey Korshunov,David W. Ellison,Michael D. Taylor +123 more
TL;DR: The most impactful biomarker for posterior fossa ependymoma is molecular subgroup affiliation, independent of other demographic or treatment variables, with the survival rates being particularly poor for subtotally resected EPN_PFA, even with adjuvant radiation therapy.
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TL;DR: The association between brain tumors and multiple colorectal adenomas can result from two distinct types of germ-line defects: mutation of the APC gene or mutation of a mismatch-repair gene.
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