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Start Over Author "Northcott, Paul A" Journal acta neuropathologica
45 results on '"Northcott, Paul A"'

1. Molecular classification and outcome of children with rare CNS embryonal tumors: results from St. Jude Childrens Research Hospital including the multi-center SJYC07 and SJMB03 clinical trials.

Author

Liu, Anthony, Dhanda, Sandeep, Lin, Tong, Sioson, Edgar, Vasilyeva, Aksana, Gudenas, Brian, Tatevossian, Ruth, Jia, Sujuan, Neale, Geoffrey, Bowers, Daniel, Hassall, Tim, Partap, Sonia, Crawford, John, Chintagumpala, Murali, Bouffet, Eric, McCowage, Geoff, Broniscer, Alberto, Qaddoumi, Ibrahim, Armstrong, Greg, Wright, Karen, Upadhyaya, Santhosh, Vinitsky, Anna, Tinkle, Christopher, Lucas, John, Chiang, Jason, Indelicato, Daniel, Sanders, Robert, Klimo, Paul, Boop, Frederick, Merchant, Thomas, Ellison, David, Northcott, Paul, Orr, Brent, Zhou, Xin, Onar-Thomas, Arzu, Gajjar, Amar, and Robinson, Giles

Subjects
Brain Neoplasms, Central Nervous System Neoplasms, Child, Forkhead Transcription Factors, Glioblastoma, Hospitals, Humans, Neoplasms, Germ Cell and Embryonal, Neuroectodermal Tumors, Primitive
Abstract

Methylation profiling has radically transformed our understanding of tumors previously called central nervous system primitive neuro-ectodermal tumors (CNS-PNET). While this marks a momentous step toward defining key differences, reclassification has thrown treatment into disarray. To shed light on response to therapy and guide clinical decision-making, we report outcomes and molecular features of children with CNS-PNETs from two multi-center risk-adapted studies (SJMB03 for patients ≥ 3 years; SJYC07 for patients

Published
2022

2. Subgroup and subtype-specific outcomes in adult medulloblastoma.

Author

Coltin, Hallie, Sundaresan, Lakshmikirupa, Smith, Kyle, Skowron, Patryk, Massimi, Luca, Eberhart, Charles, Schreck, Karisa, Gupta, Nalin, Weiss, William, Tirapelli, Daniela, Carlotti, Carlos, Li, Kay, Ryzhova, Marina, Golanov, Andrey, Zheludkova, Olga, Absalyamova, Oksana, Okonechnikov, Konstantin, Stichel, Damian, von Deimling, Andreas, Giannini, Caterina, Raskin, Scott, Van Meir, Erwin, Chan, Jennifer, Fults, Daniel, Chambless, Lola, Kim, Seung-Ki, Vasiljevic, Alexandre, Faure-Conter, Cecile, Vibhakar, Rajeev, Jung, Shin, Leary, Sarah, Mora, Jaume, McLendon, Roger, Pollack, Ian, Hauser, Peter, Grajkowska, Wieslawa, Rubin, Joshua, van Veelen, Marie-Lise, French, Pim, Kros, Johan, Liau, Linda, Pfister, Stefan, Kool, Marcel, Kijima, Noriyuki, Taylor, Michael, Packer, Roger, Northcott, Paul, Korshunov, Andrey, and Ramaswamy, Vijay

Subjects
Adult, DNA methylation profiling, Medulloblastoma, Molecular groups, Risk stratification, Adolescent, Adult, Biomarkers, Tumor, Cerebellar Neoplasms, Cohort Studies, Female, Humans, Male, Medulloblastoma, Progression-Free Survival, Risk Factors, Young Adult
Abstract

Medulloblastoma, a common pediatric malignant central nervous system tumour, represent a small proportion of brain tumours in adults. Previously it has been shown that in adults, Sonic Hedgehog (SHH)-activated tumours predominate, with Wingless-type (WNT) and Group 4 being less common, but molecular risk stratification remains a challenge. We performed an integrated analysis consisting of genome-wide methylation profiling, copy number profiling, somatic nucleotide variants and correlation of clinical variables across a cohort of 191 adult medulloblastoma cases identified through the Medulloblastoma Advanced Genomics International Consortium. We identified 30 WNT, 112 SHH, 6 Group 3, and 41 Group 4 tumours. Patients with SHH tumours were significantly older at diagnosis compared to other subgroups (p

Published
2021

3. Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials

Author

Liu, Anthony PY, Gudenas, Brian, Lin, Tong, Orr, Brent A, Klimo, Paul, Kumar, Rahul, Bouffet, Eric, Gururangan, Sridharan, Crawford, John R, Kellie, Stewart J, Chintagumpala, Murali, Fisher, Michael J, Bowers, Daniel C, Hassall, Tim, Indelicato, Daniel J, Onar-Thomas, Arzu, Ellison, David W, Boop, Frederick A, Merchant, Thomas E, Robinson, Giles W, Northcott, Paul A, and Gajjar, Amar

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Pediatric Cancer, Genetics, Clinical Trials and Supportive Activities, Biotechnology, Pediatric, Clinical Research, Prevention, Cancer, Adolescent, Age Factors, Brain Neoplasms, Child, Child, Preschool, Cohort Studies, DNA Methylation, Female, Humans, Male, Pineal Gland, Pinealoma, Proto-Oncogene Mas, Risk Factors, Survival Rate, Young Adult, Pineoblastoma, Clinical trial, Molecular subgroups, DICER1, MicroRNA processing, FOXR2, Neurosciences, Neurology & Neurosurgery
Abstract

Pineoblastoma is a rare embryonal tumor of childhood that is conventionally treated with high-dose craniospinal irradiation (CSI). Multi-dimensional molecular evaluation of pineoblastoma and associated intertumoral heterogeneity is lacking. Herein, we report outcomes and molecular features of children with pineoblastoma from two multi-center, risk-adapted trials (SJMB03 for patients ≥ 3 years; SJYC07 for patients

Published
2020

4. Deep sequencing of WNT-activated medulloblastomas reveals secondary SHH pathway activation

Author

Iorgulescu, J Bryan, Van Ziffle, Jessica, Stevers, Meredith, Grenert, James P, Bastian, Boris C, Chavez, Lukas, Stichel, Damian, Buchhalter, Ivo, Samuel, David, Nicolaides, Theodore, Banerjee, Anuradha, Mueller, Sabine, Gupta, Nalin, Tihan, Tarik, Bollen, Andrew W, Northcott, Paul A, Kool, Marcel, Pfister, Stefan, Korshunov, Andrey, Perry, Arie, and Solomon, David A

Subjects
Biomedical and Clinical Sciences, Neurosciences, Adolescent, Adult, Cerebellar Neoplasms, Child, Cohort Studies, Disease Progression, Female, Gene Frequency, Hedgehog Proteins, High-Throughput Nucleotide Sequencing, Humans, Male, Medulloblastoma, Mutation, Signal Transduction, Wnt Proteins, Young Adult, Clinical Sciences, Neurology & Neurosurgery
Published
2018

5. Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity.

Author

Picard, Daniel, Rosenblum, Marc, Antonelli, Manila, Aronica, Eleonora, Schüller, Ulrich, Hasselblatt, Martin, Woehrer, Adelheid, Zheludkova, Olga, Kumirova, Ella, Puget, Stephanie, Taylor, Michael, Giangaspero, Felice, Peter Collins, V, von Deimling, Andreas, Lichter, Peter, Huang, Annie, Pietsch, Torsten, Pfister, Stefan, Kool, Marcel, Korshunov, Andrey, Sturm, Dominik, Ryzhova, Marina, Hovestadt, Volker, Gessi, Marco, Jones, David, Remke, Marc, Northcott, Paul, and Perry, Arie

Subjects
Brain Neoplasms, Child, Child, Preschool, Chromosomes, Human, Pair 19, DNA Copy Number Variations, DNA Methylation, Diagnosis, Differential, Female, Genetic Loci, Humans, Immunohistochemistry, In Situ Hybridization, Fluorescence, Infant, Male, Neoplasm Recurrence, Local, Neoplasms, Germ Cell and Embryonal, Neuroectodermal Tumors, Primitive, Survival Analysis
Abstract

Three histological variants are known within the family of embryonal rosette-forming neuroepithelial brain tumors. These include embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL), and medulloepithelioma (MEPL). In this study, we performed a comprehensive clinical, pathological, and molecular analysis of 97 cases of these rare brain neoplasms, including genome-wide DNA methylation and copy number profiling of 41 tumors. We identified uniform molecular signatures in all tumors irrespective of histological patterns, indicating that ETANTR, EBL, and MEPL comprise a single biological entity. As such, future WHO classification schemes should consider lumping these variants into a single diagnostic category, such as embryonal tumor with multilayered rosettes (ETMR). We recommend combined LIN28A immunohistochemistry and FISH analysis of the 19q13.42 locus for molecular diagnosis of this tumor category. Recognition of this distinct pediatric brain tumor entity based on the fact that the three histological variants are molecularly and clinically uniform will help to distinguish ETMR from other embryonal CNS tumors and to better understand the biology of these highly aggressive and therapy-resistant pediatric CNS malignancies, possibly leading to alternate treatment strategies.

Published
2014

6. Medulloblastoma Down Under 2013: a report from the third annual meeting of the International Medulloblastoma Working Group.

Author

Williamson, Dan, Gajjar, Amar, Gottardo, Nicholas, Hansford, Jordan, McGlade, Jacqueline, Alvaro, Frank, Ashley, David, Bailey, Simon, Baker, David, Bourdeaut, Franck, Cho, Yoon-Jae, Clay, Moira, Clifford, Steven, Cohn, Richard, Cole, Catherine, Dallas, Peter, Downie, Peter, Doz, François, Ellison, David, Endersby, Raelene, Fisher, Paul, Hassall, Timothy, Heath, John, Hii, Hilary, Jones, David, Junckerstorff, Reimar, Kellie, Stewart, Kool, Marcel, Kotecha, Rishi, Lichter, Peter, Laughton, Stephen, Lee, Sharon, McCowage, Geoff, Northcott, Paul, Olson, James, Packer, Roger, Pfister, Stefan, Pietsch, Torsten, Pizer, Barry, Pomeroy, Scott, Remke, Marc, Robinson, Giles, Rutkowski, Stefan, Schoep, Tobias, Shelat, Anang, Stewart, Clinton, Sullivan, Michael, Taylor, Michael, Wainwright, Brandon, Walwyn, Thomas, and Weiss, William

Subjects
Adolescent, Animals, Antineoplastic Agents, Australia, Cerebellar Neoplasms, Child, Child, Preschool, Disease Models, Animal, Genomics, Humans, International Agencies, Medulloblastoma, Mice
Abstract

Medulloblastoma is curable in approximately 70% of patients. Over the past decade, progress in improving survival using conventional therapies has stalled, resulting in reduced quality of life due to treatment-related side effects, which are a major concern in survivors. The vast amount of genomic and molecular data generated over the last 5-10 years encourages optimism that improved risk stratification and new molecular targets will improve outcomes. It is now clear that medulloblastoma is not a single-disease entity, but instead consists of at least four distinct molecular subgroups: WNT/Wingless, Sonic Hedgehog, Group 3, and Group 4. The Medulloblastoma Down Under 2013 meeting, which convened at Bunker Bay, Australia, brought together 50 leading clinicians and scientists. The 2-day agenda included focused sessions on pathology and molecular stratification, genomics and mouse models, high-throughput drug screening, and clinical trial design. The meeting established a global action plan to translate novel biologic insights and drug targeting into treatment regimens to improve outcomes. A consensus was reached in several key areas, with the most important being that a novel classification scheme for medulloblastoma based on the four molecular subgroups, as well as histopathologic features, should be presented for consideration in the upcoming fifth edition of the World Health Organizations classification of tumours of the central nervous system. Three other notable areas of agreement were as follows: (1) to establish a central repository of annotated mouse models that are readily accessible and freely available to the international research community; (2) to institute common eligibility criteria between the Childrens Oncology Group and the International Society of Paediatric Oncology Europe and initiate joint or parallel clinical trials; (3) to share preliminary high-throughput screening data across discovery labs to hasten the development of novel therapeutics. Medulloblastoma Down Under 2013 was an effective forum for meaningful discussion, which resulted in enhancing international collaborative clinical and translational research of this rare disease. This template could be applied to other fields to devise global action plans addressing all aspects of a disease, from improved disease classification, treatment stratification, and drug targeting to superior treatment regimens to be assessed in cooperative international clinical trials.

Published
2014

7. TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma.

Author

Remke, Marc, Ramaswamy, Vijay, Peacock, John, Shih, David, Koelsche, Christian, Northcott, Paul, Hill, Nadia, Cavalli, Florence, Kool, Marcel, Wang, Xin, Mack, Stephen, Barszczyk, Mark, Morrissy, A, Wu, Xiaochong, Agnihotri, Sameer, Luu, Betty, Jones, David, Garzia, Livia, Dubuc, Adrian, Zhukova, Nataliya, Vanner, Robert, Kros, Johan, French, Pim, Van Meir, Erwin, Vibhakar, Rajeev, Zitterbart, Karel, Chan, Jennifer, Bognár, László, Klekner, Almos, Lach, Boleslaw, Jung, Shin, Saad, Ali, Albrecht, Steffen, Zollo, Massimo, Cooper, Michael, Thompson, Reid, Delattre, Oliver, Bourdeaut, Franck, Doz, François, Garami, Miklós, Hauser, Peter, Carlotti, Carlos, Van Meter, Timothy, Massimi, Luca, Fults, Daniel, Pomeroy, Scott, Kumabe, Toshiro, Ra, Young, Leonard, Jeffrey, Elbabaa, Samer, Mora, Jaume, Rubin, Joshua, Cho, Yoon-Jae, McLendon, Roger, Bigner, Darell, Eberhart, Charles, Fouladi, Maryam, Wechsler-Reya, Robert, Faria, Claudia, Croul, Sidney, Huang, Annie, Bouffet, Eric, Hawkins, Cynthia, Dirks, Peter, Schüller, Ulrich, Pollack, Ian, Rutkowski, Stefan, Meyronet, David, Jouvet, Anne, Fèvre-Montange, Michelle, Jabado, Nada, Perek-Polnik, Marta, Grajkowska, Wieslawa, Kim, Seung-Ki, Rutka, James, Malkin, David, Tabori, Uri, Pfister, Stefan, Korshunov, Andrey, von Deimling, Andreas, Taylor, Michael, Weiss, William, and Liau, Linda

Subjects
Adolescent, Adult, Brain Neoplasms, Child, Child, Preschool, DNA Mutational Analysis, Female, Gene Expression Profiling, Genotype, Humans, Infant, Male, Medulloblastoma, Middle Aged, Mutation, Prognosis, Promoter Regions, Genetic, Telomerase
Abstract

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

Published
2013

8. Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma

Author

Dubuc, Adrian M, Remke, Marc, Korshunov, Andrey, Northcott, Paul A, Zhan, Shing H, Mendez-Lago, Maria, Kool, Marcel, Jones, David TW, Unterberger, Alexander, Morrissy, A Sorana, Shih, David, Peacock, John, Ramaswamy, Vijay, Rolider, Adi, Wang, Xin, Witt, Hendrik, Hielscher, Thomas, Hawkins, Cynthia, Vibhakar, Rajeev, Croul, Sidney, Rutka, James T, Weiss, William A, Jones, Steven JM, Eberhart, Charles G, Marra, Marco A, Pfister, Stefan M, and Taylor, Michael D

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Pediatric, Human Genome, Brain Disorders, Cancer, Genetics, Rare Diseases, Pediatric Cancer, Brain Cancer, Base Sequence, Cerebellar Neoplasms, Cohort Studies, DNA-Binding Proteins, Female, Genetic Predisposition to Disease, Genome, Histone Demethylases, Histone Methyltransferases, Histone-Lysine N-Methyltransferase, Humans, Lysine, Male, Medulloblastoma, Methylation, Mutation, Neoplasm Proteins, Nuclear Proteins, Polymorphism, Single Nucleotide, MLL2, KDM6A, Histone lysine methylation, PRC2, Clinical Sciences, Neurosciences, Neurology & Neurosurgery
Abstract

Recent sequencing efforts have described the mutational landscape of the pediatric brain tumor medulloblastoma. Although MLL2 is among the most frequent somatic single nucleotide variants (SNV), the clinical and biological significance of these mutations remains uncharacterized. Through targeted re-sequencing, we identified mutations of MLL2 in 8 % (14/175) of MBs, the majority of which were loss of function. Notably, we also report mutations affecting the MLL2-binding partner KDM6A, in 4 % (7/175) of tumors. While MLL2 mutations were independent of age, gender, histological subtype, M-stage or molecular subgroup, KDM6A mutations were most commonly identified in Group 4 MBs, and were mutually exclusive with MLL2 mutations. Immunohistochemical staining for H3K4me3 and H3K27me3, the chromatin effectors of MLL2 and KDM6A activity, respectively, demonstrated alterations of the histone code in 24 % (53/220) of MBs across all subgroups. Correlating these MLL2- and KDM6A-driven histone marks with prognosis, we identified populations of MB with improved (K4+/K27-) and dismal (K4-/K27-) outcomes, observed primarily within Group 3 and 4 MBs. Group 3 and 4 MBs demonstrate somatic copy number aberrations, and transcriptional profiles that converge on modifiers of H3K27-methylation (EZH2, KDM6A, KDM6B), leading to silencing of PRC2-target genes. As PRC2-mediated aberrant methylation of H3K27 has recently been targeted for therapy in other diseases, it represents an actionable target for a substantial percentage of medulloblastoma patients with aggressive forms of the disease.

Published
2013

9. LIN28A immunoreactivity is a potent diagnostic marker of embryonal tumor with multilayered rosettes (ETMR).

Author

Picard, Daniel, Rosenblum, Marc, Giangaspero, Felice, Aronica, Eleonora, Schüller, Ulrich, Hasselblatt, Martin, Collins, V, von Deimling, Andreas, Lichter, Peter, Huang, Annie, Pfister, Stefan, Kool, Marcel, Korshunov, Andrey, Ryzhova, Marina, Jones, David, Northcott, Paul, van Sluis, Peter, Volckmann, Richard, Koster, Jan, Versteeg, Rogier, Cowdrey, Cynthia, and Perry, Arie

Subjects
Adolescent, Biomarkers, Tumor, Brain Neoplasms, Child, Child, Preschool, DNA-Binding Proteins, Diagnosis, Differential, Gene Expression Profiling, Humans, MicroRNAs, Neoplasms, Germ Cell and Embryonal, Neuroectodermal Tumors, Primitive, Neuropil, RNA-Binding Proteins, Rhabdoid Tumor
Abstract

Embryonal tumor with multilayered rosettes (ETMR, previously known as ETANTR) is a highly aggressive embryonal CNS tumor, which almost exclusively affects infants and is associated with a dismal prognosis. Accurate diagnosis is of critical clinical importance because of its poor response to current treatment protocols and its distinct biology. Amplification of the miRNA cluster at 19q13.42 has been identified previously as a genetic hallmark for ETMR, but an immunohistochemistry-based assay for clinical routine diagnostics [such as INI-1 for atypical teratoid rhabdoid tumor (AT/RT)] is still lacking. In this study, we screened for an ETMR-specific marker using a gene-expression profiling dataset of more than 1,400 brain tumors and identified LIN28A as a highly specific marker for ETMR. The encoded protein binds small RNA and has been implicated in stem cell pluripotency, metabolism and tumorigenesis. Using an LIN28A specific antibody, we carried out immunohistochemical analysis of LIN28A in more than 800 childhood brain-tumor samples and confirmed its high specificity for ETMR. Strong LIN28A immunoexpression was found in all 37 ETMR samples tested, whereas focal reactivity was only present in a small (6/50) proportion of AT/RT samples. All other pediatric brain tumors were completely LIN28A-negative. In summary, we established LIN28A immunohistochemistry as a highly sensitive and specific, rapid, inexpensive diagnostic tool for routine pathological verification of ETMR.

Published
2012

10. Subgroup-specific alternative splicing in medulloblastoma

Author

Dubuc, Adrian M., Morrissy, A. Sorana, Kloosterhof, Nanne K., Northcott, Paul A., Yu, Emily P. Y., Shih, David, Peacock, John, Grajkowska, Wieslawa, van Meter, Timothy, Eberhart, Charles G., Pfister, Stefan, Marra, Marco A., Weiss, William A., Scherer, Stephen W., Rutka, James T., French, Pim J., and Taylor, Michael D.

Published
2012
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11. Biological and clinical heterogeneity of MYCN-amplified medulloblastoma

Author

Korshunov, Andrey, Remke, Marc, Kool, Marcel, Hielscher, Thomas, Northcott, Paul A., Williamson, Dan, Pfaff, Elke, Witt, Hendrik, Jones, David T. W., Ryzhova, Marina, Cho, Yoon-Jae, Wittmann, Andrea, Benner, Axel, Weiss, William A., von Deimling, Andreas, Scheurlen, Wolfram, Kulozik, Andreas E., Clifford, Steven C., Peter Collins, V., Westermann, Frank, Taylor, Michael D., Lichter, Peter, and Pfister, Stefan M.

Published
2012
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12. Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas

Author

Kool, Marcel, Korshunov, Andrey, Remke, Marc, Jones, David T. W., Schlanstein, Maria, Northcott, Paul A., Cho, Yoon-Jae, Koster, Jan, Schouten-van Meeteren, Antoinette, van Vuurden, Dannis, Clifford, Steven C., Pietsch, Torsten, von Bueren, Andre O., Rutkowski, Stefan, McCabe, Martin, Collins, V. Peter, Bäcklund, Magnus L., Haberler, Christine, Bourdeaut, Franck, Delattre, Olivier, Doz, Francois, Ellison, David W., Gilbertson, Richard J., Pomeroy, Scott L., Taylor, Michael D., Lichter, Peter, and Pfister, Stefan M.

Published
2012
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13. Molecular subgroups of medulloblastoma: the current consensus

Author

Taylor, Michael D., Northcott, Paul A., Korshunov, Andrey, Remke, Marc, Cho, Yoon-Jae, Clifford, Steven C., Eberhart, Charles G., Parsons, D. Williams, Rutkowski, Stefan, Gajjar, Amar, Ellison, David W., Lichter, Peter, Gilbertson, Richard J., Pomeroy, Scott L., Kool, Marcel, and Pfister, Stefan M.

Published
2012
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14. MicroRNA-182 promotes leptomeningeal spread of non-sonic hedgehog-medulloblastoma

Author

Bai, Alfa H. C., Milde, Till, Remke, Marc, Rolli, Claudio G., Hielscher, Thomas, Cho, Yoon-Jae, Kool, Marcel, Northcott, Paul A., Jugold, Manfred, Bazhin, Alexandr V., Eichmüller, Stefan B., Kulozik, Andreas E., Pscherer, Armin, Benner, Axel, Taylor, Michael D., Pomeroy, Scott L., Kemkemer, Ralf, Witt, Olaf, Korshunov, Andrey, Lichter, Peter, and Pfister, Stefan M.

Published
2012
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17. Clinical and molecular heterogeneity of pineal parenchymal tumors: a consensus study

Author

Liu, Anthony P. Y., primary, Li, Bryan K., additional, Pfaff, Elke, additional, Gudenas, Brian, additional, Vasiljevic, Alexandre, additional, Orr, Brent A., additional, Dufour, Christelle, additional, Snuderl, Matija, additional, Karajannis, Matthias A., additional, Rosenblum, Marc K., additional, Hwang, Eugene I., additional, Ng, Ho-Keung, additional, Hansford, Jordan R., additional, Szathmari, Alexandru, additional, Faure-Conter, Cécile, additional, Merchant, Thomas E., additional, Levine, Max, additional, Bouvier, Nancy, additional, von Hoff, Katja, additional, Mynarek, Martin, additional, Rutkowski, Stefan, additional, Sahm, Felix, additional, Kool, Marcel, additional, Hawkins, Cynthia, additional, Onar-Thomas, Arzu, additional, Robinson, Giles W., additional, Gajjar, Amar, additional, Pfister, Stefan M., additional, Bouffet, Eric, additional, Northcott, Paul A., additional, Jones, David T. W., additional, and Huang, Annie, additional

Published
2021
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18. WNT-activated embryonal tumors of the pineal region: ectopic medulloblastomas or a novel pineoblastoma subgroup?

Author

Liu, Anthony P. Y., primary, Priesterbach-Ackley, Loudy P., additional, Orr, Brent A., additional, Li, Bryan K., additional, Gudenas, Brian, additional, Reddingius, Roel E., additional, Suñol, Mariona, additional, Lavarino, Cinzia E., additional, Olaciregui, Nagore G., additional, Santa-María López, Vicente, additional, Fisher, Michael J., additional, Hazrati, Lili-Naz, additional, Bouffet, Eric, additional, Huang, Annie, additional, Robinson, Giles W., additional, Wesseling, Pieter, additional, Northcott, Paul A., additional, and Gajjar, Amar, additional

Published
2020
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19. Patient-derived orthotopic xenografts of pediatric brain tumors: a St. Jude resource

Author

Smith, Kyle S., primary, Xu, Ke, additional, Mercer, Kimberly S., additional, Boop, Frederick, additional, Klimo, Paul, additional, DeCupyere, Michael, additional, Grenet, Jose, additional, Robinson, Sarah, additional, Dunphy, Paige, additional, Baker, Suzanne J., additional, Ellison, David W., additional, Merchant, Thomas E., additional, Upadayaya, Santhosh A., additional, Gajjar, Amar, additional, Wu, Gang, additional, Orr, Brent A., additional, Robinson, Giles W., additional, Northcott, Paul A., additional, and Roussel, Martine F., additional

Published
2020
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20. Correction to: Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials

Author

Liu, Anthony P. Y., primary, Gudenas, Brian, additional, Lin, Tong, additional, Orr, Brent A., additional, Klimo, Paul, additional, Kumar, Rahul, additional, Bouffet, Eric, additional, Gururangan, Sridharan, additional, Crawford, John R., additional, Kellie, Stewart J., additional, Chintagumpala, Murali, additional, Fisher, Michael J., additional, Bowers, Daniel C., additional, Hassall, Tim, additional, Indelicato, Daniel J., additional, Onar-Thomas, Arzu, additional, Ellison, David W., additional, Boop, Frederick A., additional, Merchant, Thomas E., additional, Robinson, Giles W., additional, Northcott, Paul A., additional, and Gajjar, Amar, additional

Published
2019
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21. Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials

Author

Liu, Anthony P. Y., primary, Gudenas, Brian, additional, Lin, Tong, additional, Orr, Brent A., additional, Klimo, Paul, additional, Kumar, Rahul, additional, Bouffet, Eric, additional, Gururangan, Sridharan, additional, Crawford, John R., additional, Kellie, Stewart J., additional, Chintagumpala, Murali, additional, Fisher, Michael J., additional, Bowers, Daniel C., additional, Hassall, Tim, additional, Indelicato, Daniel J., additional, Onar-Thomas, Arzu, additional, Ellison, David W., additional, Boop, Frederick A., additional, Merchant, Thomas E., additional, Robinson, Giles W., additional, Northcott, Paul A., additional, and Gajjar, Amar, additional

Published
2019
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22. Second-generation molecular subgrouping of medulloblastoma: an international meta-analysis of Group 3 and Group 4 subtypes

Author

Sharma, Tanvi, primary, Schwalbe, Edward C., additional, Williamson, Daniel, additional, Sill, Martin, additional, Hovestadt, Volker, additional, Mynarek, Martin, additional, Rutkowski, Stefan, additional, Robinson, Giles W., additional, Gajjar, Amar, additional, Cavalli, Florence, additional, Ramaswamy, Vijay, additional, Taylor, Michael D., additional, Lindsey, Janet C., additional, Hill, Rebecca M., additional, Jäger, Natalie, additional, Korshunov, Andrey, additional, Hicks, Debbie, additional, Bailey, Simon, additional, Kool, Marcel, additional, Chavez, Lukas, additional, Northcott, Paul A., additional, Pfister, Stefan M., additional, and Clifford, Steven C., additional

Published
2019
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24. Risk stratification of childhood medulloblastoma in the molecular era: the current consensus

Author

Ramaswamy, Vijay, primary, Remke, Marc, additional, Bouffet, Eric, additional, Bailey, Simon, additional, Clifford, Steven C., additional, Doz, Francois, additional, Kool, Marcel, additional, Dufour, Christelle, additional, Vassal, Gilles, additional, Milde, Till, additional, Witt, Olaf, additional, von Hoff, Katja, additional, Pietsch, Torsten, additional, Northcott, Paul A., additional, Gajjar, Amar, additional, Robinson, Giles W., additional, Padovani, Laetitia, additional, André, Nicolas, additional, Massimino, Maura, additional, Pizer, Barry, additional, Packer, Roger, additional, Rutkowski, Stefan, additional, Pfister, Stefan M., additional, Taylor, Michael D., additional, and Pomeroy, Scott L., additional

Published
2016
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26. Integrated analysis of pediatric glioblastoma reveals a subset of biologically favorable tumors with associated molecular prognostic markers

Author

Korshunov, Andrey, primary, Ryzhova, Marina, additional, Hovestadt, Volker, additional, Bender, Sebastian, additional, Sturm, Dominik, additional, Capper, David, additional, Meyer, Jochen, additional, Schrimpf, Daniel, additional, Kool, Marcel, additional, Northcott, Paul A., additional, Zheludkova, Olga, additional, Milde, Till, additional, Witt, Olaf, additional, Kulozik, Andreas E., additional, Reifenberger, Guido, additional, Jabado, Nada, additional, Perry, Arie, additional, Lichter, Peter, additional, von Deimling, Andreas, additional, Pfister, Stefan M., additional, and Jones, David T. W., additional

Published
2015
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27. Medulloblastoma subgroups remain stable across primary and metastatic compartments

Author

Wang, Xin, primary, Dubuc, Adrian M., additional, Ramaswamy, Vijay, additional, Mack, Stephen, additional, Gendoo, Deena M. A., additional, Remke, Marc, additional, Wu, Xiaochong, additional, Garzia, Livia, additional, Luu, Betty, additional, Cavalli, Florence, additional, Peacock, John, additional, López, Borja, additional, Skowron, Patryk, additional, Zagzag, David, additional, Lyden, David, additional, Hoffman, Caitlin, additional, Cho, Yoon-Jae, additional, Eberhart, Charles, additional, MacDonald, Tobey, additional, Li, Xiao-Nan, additional, Van Meter, Timothy, additional, Northcott, Paul A., additional, Haibe-Kains, Benjamin, additional, Hawkins, Cynthia, additional, Rutka, James T., additional, Bouffet, Eric, additional, Pfister, Stefan M., additional, Korshunov, Andrey, additional, and Taylor, Michael D., additional

Published
2015
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29. Prognostic significance of clinical, histopathological, and molecular characteristics of medulloblastomas in the prospective HIT2000 multicenter clinical trial cohort

Author

Pietsch, Torsten, primary, Schmidt, Rene, additional, Remke, Marc, additional, Korshunov, Andrey, additional, Hovestadt, Volker, additional, Jones, David T. W., additional, Felsberg, Jörg, additional, Kaulich, Kerstin, additional, Goschzik, Tobias, additional, Kool, Marcel, additional, Northcott, Paul A., additional, von Hoff, Katja, additional, von Bueren, André O., additional, Friedrich, Carsten, additional, Mynarek, Martin, additional, Skladny, Heyko, additional, Fleischhack, Gudrun, additional, Taylor, Michael D., additional, Cremer, Friedrich, additional, Lichter, Peter, additional, Faldum, Andreas, additional, Reifenberger, Guido, additional, Rutkowski, Stefan, additional, and Pfister, Stefan M., additional

Published
2014
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30. Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity

Author

Korshunov, Andrey, primary, Sturm, Dominik, additional, Ryzhova, Marina, additional, Hovestadt, Volker, additional, Gessi, Marco, additional, Jones, David T. W., additional, Remke, Marc, additional, Northcott, Paul, additional, Perry, Arie, additional, Picard, Daniel, additional, Rosenblum, Marc, additional, Antonelli, Manila, additional, Aronica, Eleonora, additional, Schüller, Ulrich, additional, Hasselblatt, Martin, additional, Woehrer, Adelheid, additional, Zheludkova, Olga, additional, Kumirova, Ella, additional, Puget, Stephanie, additional, Taylor, Michael D., additional, Giangaspero, Felice, additional, Peter Collins, V., additional, von Deimling, Andreas, additional, Lichter, Peter, additional, Huang, Annie, additional, Pietsch, Torsten, additional, Pfister, Stefan M., additional, and Kool, Marcel, additional

Published
2013
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31. Medulloblastoma Down Under 2013: a report from the third annual meeting of the International Medulloblastoma Working Group

Author

Gottardo, Nicholas G., primary, Hansford, Jordan R., additional, McGlade, Jacqueline P., additional, Alvaro, Frank, additional, Ashley, David M., additional, Bailey, Simon, additional, Baker, David L., additional, Bourdeaut, Franck, additional, Cho, Yoon-Jae, additional, Clay, Moira, additional, Clifford, Steven C., additional, Cohn, Richard J., additional, Cole, Catherine H., additional, Dallas, Peter B., additional, Downie, Peter, additional, Doz, François, additional, Ellison, David W., additional, Endersby, Raelene, additional, Fisher, Paul G., additional, Hassall, Timothy, additional, Heath, John A., additional, Hii, Hilary L., additional, Jones, David T. W., additional, Junckerstorff, Reimar, additional, Kellie, Stewart, additional, Kool, Marcel, additional, Kotecha, Rishi S., additional, Lichter, Peter, additional, Laughton, Stephen J., additional, Lee, Sharon, additional, McCowage, Geoff, additional, Northcott, Paul A., additional, Olson, James M., additional, Packer, Roger J., additional, Pfister, Stefan M., additional, Pietsch, Torsten, additional, Pizer, Barry, additional, Pomeroy, Scott L., additional, Remke, Marc, additional, Robinson, Giles W., additional, Rutkowski, Stefan, additional, Schoep, Tobias, additional, Shelat, Anang A., additional, Stewart, Clinton F., additional, Sullivan, Michael, additional, Taylor, Michael D., additional, Wainwright, Brandon, additional, Walwyn, Thomas, additional, Weiss, William A., additional, Williamson, Dan, additional, and Gajjar, Amar, additional

Published
2013
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32. Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system

Author

Koelsche, Christian, primary, Sahm, Felix, additional, Capper, David, additional, Reuss, David, additional, Sturm, Dominik, additional, Jones, David T. W., additional, Kool, Marcel, additional, Northcott, Paul A., additional, Wiestler, Benedikt, additional, Böhmer, Katja, additional, Meyer, Jochen, additional, Mawrin, Christian, additional, Hartmann, Christian, additional, Mittelbronn, Michel, additional, Platten, Michael, additional, Brokinkel, Benjamin, additional, Seiz, Marcel, additional, Herold-Mende, Christel, additional, Unterberg, Andreas, additional, Schittenhelm, Jens, additional, Weller, Michael, additional, Pfister, Stefan, additional, Wick, Wolfgang, additional, Korshunov, Andrey, additional, and von Deimling, Andreas, additional

Published
2013
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33. Robust molecular subgrouping and copy-number profiling of medulloblastoma from small amounts of archival tumour material using high-density DNA methylation arrays

Author

Hovestadt, Volker, primary, Remke, Marc, additional, Kool, Marcel, additional, Pietsch, Torsten, additional, Northcott, Paul A., additional, Fischer, Roger, additional, Cavalli, Florence M. G., additional, Ramaswamy, Vijay, additional, Zapatka, Marc, additional, Reifenberger, Guido, additional, Rutkowski, Stefan, additional, Schick, Matthias, additional, Bewerunge-Hudler, Melanie, additional, Korshunov, Andrey, additional, Lichter, Peter, additional, Taylor, Michael D., additional, Pfister, Stefan M., additional, and Jones, David T. W., additional

Published
2013
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34. DNA methylation profiling of medulloblastoma allows robust subclassification and improved outcome prediction using formalin-fixed biopsies

Author

Schwalbe, Edward C., primary, Williamson, Daniel, additional, Lindsey, Janet C., additional, Hamilton, Dolores, additional, Ryan, Sarra L., additional, Megahed, Hisham, additional, Garami, Miklós, additional, Hauser, Peter, additional, Dembowska-Baginska, Bożena, additional, Perek, Danuta, additional, Northcott, Paul A., additional, Taylor, Michael D., additional, Taylor, Roger E., additional, Ellison, David W., additional, Bailey, Simon, additional, and Clifford, Steven C., additional

Published
2013
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35. Aberrant patterns of H3K4 and H3K27 histone lysine methylation occur across subgroups in medulloblastoma

Author

Dubuc, Adrian M., primary, Remke, Marc, additional, Korshunov, Andrey, additional, Northcott, Paul A., additional, Zhan, Shing H., additional, Mendez-Lago, Maria, additional, Kool, Marcel, additional, Jones, David T. W., additional, Unterberger, Alexander, additional, Morrissy, A. Sorana, additional, Shih, David, additional, Peacock, John, additional, Ramaswamy, Vijay, additional, Rolider, Adi, additional, Wang, Xin, additional, Witt, Hendrik, additional, Hielscher, Thomas, additional, Hawkins, Cynthia, additional, Vibhakar, Rajeev, additional, Croul, Sidney, additional, Rutka, James T., additional, Weiss, William A., additional, Jones, Steven J. M., additional, Eberhart, Charles G., additional, Marra, Marco A., additional, Pfister, Stefan M., additional, and Taylor, Michael D., additional

Published
2012
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36. LIN28A immunoreactivity is a potent diagnostic marker of embryonal tumor with multilayered rosettes (ETMR)

Author

Korshunov, Andrey, primary, Ryzhova, Marina, additional, Jones, David T. W., additional, Northcott, Paul A., additional, van Sluis, Peter, additional, Volckmann, Richard, additional, Koster, Jan, additional, Versteeg, Rogier, additional, Cowdrey, Cynthia, additional, Perry, Arie, additional, Picard, Daniel, additional, Rosenblum, Marc, additional, Giangaspero, Felice, additional, Aronica, Eleonora, additional, Schüller, Ulrich, additional, Hasselblatt, Martin, additional, Collins, V. Peter, additional, von Deimling, Andreas, additional, Lichter, Peter, additional, Huang, Annie, additional, Pfister, Stefan M., additional, and Kool, Marcel, additional

Published
2012
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37. Biological and clinical heterogeneity of MYCN-amplified medulloblastoma

Author

Korshunov, Andrey, primary, Remke, Marc, additional, Kool, Marcel, additional, Hielscher, Thomas, additional, Northcott, Paul A., additional, Williamson, Dan, additional, Pfaff, Elke, additional, Witt, Hendrik, additional, Jones, David T. W., additional, Ryzhova, Marina, additional, Cho, Yoon-Jae, additional, Wittmann, Andrea, additional, Benner, Axel, additional, Weiss, William A., additional, von Deimling, Andreas, additional, Scheurlen, Wolfram, additional, Kulozik, Andreas E., additional, Clifford, Steven C., additional, Peter Collins, V., additional, Westermann, Frank, additional, Taylor, Michael D., additional, Lichter, Peter, additional, and Pfister, Stefan M., additional

Published
2011
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38. MicroRNA-182 promotes leptomeningeal spread of non-sonic hedgehog-medulloblastoma

Author

Bai, Alfa H. C., primary, Milde, Till, additional, Remke, Marc, additional, Rolli, Claudio G., additional, Hielscher, Thomas, additional, Cho, Yoon-Jae, additional, Kool, Marcel, additional, Northcott, Paul A., additional, Jugold, Manfred, additional, Bazhin, Alexandr V., additional, Eichmüller, Stefan B., additional, Kulozik, Andreas E., additional, Pscherer, Armin, additional, Benner, Axel, additional, Taylor, Michael D., additional, Pomeroy, Scott L., additional, Kemkemer, Ralf, additional, Witt, Olaf, additional, Korshunov, Andrey, additional, Lichter, Peter, additional, and Pfister, Stefan M., additional

Published
2011
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39. Molecular subgroups of medulloblastoma: the current consensus

Author

Taylor, Michael D., primary, Northcott, Paul A., additional, Korshunov, Andrey, additional, Remke, Marc, additional, Cho, Yoon-Jae, additional, Clifford, Steven C., additional, Eberhart, Charles G., additional, Parsons, D. Williams, additional, Rutkowski, Stefan, additional, Gajjar, Amar, additional, Ellison, David W., additional, Lichter, Peter, additional, Gilbertson, Richard J., additional, Pomeroy, Scott L., additional, Kool, Marcel, additional, and Pfister, Stefan M., additional

Published
2011
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40. Rapid, reliable, and reproducible molecular sub-grouping of clinical medulloblastoma samples

Author

Northcott, Paul A., primary, Shih, David J. H., additional, Remke, Marc, additional, Cho, Yoon-Jae, additional, Kool, Marcel, additional, Hawkins, Cynthia, additional, Eberhart, Charles G., additional, Dubuc, Adrian, additional, Guettouche, Toumy, additional, Cardentey, Yoslayma, additional, Bouffet, Eric, additional, Pomeroy, Scott L., additional, Marra, Marco, additional, Malkin, David, additional, Rutka, James T., additional, Korshunov, Andrey, additional, Pfister, Stefan, additional, and Taylor, Michael D., additional

Published
2011
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41. Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity.

Author

Korshunov, Andrey, Sturm, Dominik, Ryzhova, Marina, Hovestadt, Volker, Gessi, Marco, Jones, David, Remke, Marc, Northcott, Paul, Perry, Arie, Picard, Daniel, Rosenblum, Marc, Antonelli, Manila, Aronica, Eleonora, Schüller, Ulrich, Hasselblatt, Martin, Woehrer, Adelheid, Zheludkova, Olga, Kumirova, Ella, Puget, Stephanie, and Taylor, Michael

Subjects
EMBRYONAL tumors, NEUROPILINS, BRAIN tumors, CENTRAL nervous system tumors, CANCER
Abstract

Three histological variants are known within the family of embryonal rosette-forming neuroepithelial brain tumors. These include embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL), and medulloepithelioma (MEPL). In this study, we performed a comprehensive clinical, pathological, and molecular analysis of 97 cases of these rare brain neoplasms, including genome-wide DNA methylation and copy number profiling of 41 tumors. We identified uniform molecular signatures in all tumors irrespective of histological patterns, indicating that ETANTR, EBL, and MEPL comprise a single biological entity. As such, future WHO classification schemes should consider lumping these variants into a single diagnostic category, such as embryonal tumor with multilayered rosettes (ETMR). We recommend combined LIN28A immunohistochemistry and FISH analysis of the 19q13.42 locus for molecular diagnosis of this tumor category. Recognition of this distinct pediatric brain tumor entity based on the fact that the three histological variants are molecularly and clinically uniform will help to distinguish ETMR from other embryonal CNS tumors and to better understand the biology of these highly aggressive and therapy-resistant pediatric CNS malignancies, possibly leading to alternate treatment strategies. [ABSTRACT FROM AUTHOR]

Published
2014
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42. TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma.

Author

Remke, Marc, 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 C., Barszczyk, Mark, Morrissy, A. Sorana, Wu, Xiaochong, Agnihotri, Sameer, Luu, Betty, Jones, David T. W., Garzia, Livia, Dubuc, Adrian M., and Zhukova, Nataliya

Subjects
TELOMERASE reverse transcriptase, GENETIC mutation, MEDULLOBLASTOMA, CYTOGENETICS, CHROMOSOMES
Abstract

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. [ABSTRACT FROM AUTHOR]

Published
2013
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43. Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system.

Author

Koelsche, Christian, Sahm, Felix, Capper, David, Reuss, David, Sturm, Dominik, Jones, David T. W., Kool, Marcel, Northcott, Paul A., Wiestler, Benedikt, Böhmer, Katja, Meyer, Jochen, Mawrin, Christian, Hartmann, Christian, Mittelbronn, Michel, Platten, Michael, Brokinkel, Benjamin, Seiz, Marcel, Herold-Mende, Christel, Unterberg, Andreas, and Schittenhelm, Jens

Subjects
GENETIC mutation, TELOMERASE reverse transcriptase, CANCER cells, CENTRAL nervous system, OLIGODENDROGLIA
Abstract

Hot spot mutations in the promoter region of telomerase reverse transcriptase ( TERT) have recently been described in several human tumor entities. These mutations result in an upregulation of the telomerase complex activity and thus constitute a relevant mechanism for immortalization of tumor cells. Knowledge of the TERT promoter status in tumors is likely to be of interest for molecular classification and as a potential target for therapy. We, therefore, performed a systematic analysis of TERT promoter mutations in 1,515 tumors of the human nervous system and its coverings including 373 pediatric and 1,142 adult patients. We detected a total of 327 mutations. TERT promoter mutations were exceedingly rare in tumors typically encountered in pediatric patients. In entities typically encountered in adult patients TERT promoter mutations were strongly associated with older age ( p < 0.0001). Highest mutation frequencies were detected in gliosarcomas (81 %), oligodendrogliomas (78 %), oligoastrocytomas (58 %), primary glioblastomas (54 %), and solitary fibrous tumors (50 %). Related to other molecular alterations, TERT promoter mutations were strongly associated with 1p/19q loss ( p < 0.0001), but inversely associated with loss of ATRX expression ( p < 0.0001) and IDH1/IDH2 mutations ( p < 0.0001). TERT promoter mutations are typically found in adult patients and occur in a highly tumor type-associated distribution. [ABSTRACT FROM AUTHOR]

Published
2013
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44. Correction to: Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials.

Author

Liu APY, Gudenas B, Lin T, Orr BA, Klimo P Jr, Kumar R, Bouffet E, Gururangan S, Crawford JR, Kellie SJ, Chintagumpala M, Fisher MJ, Bowers DC, Hassall T, Indelicato DJ, Onar-Thomas A, Ellison DW, Boop FA, Merchant TE, Robinson GW, Northcott PA, and Gajjar A

Abstract

The original version of this article unfortunately contained a typesetting error in Fig 3c. The corrected Fig. 3 is given in the following page.

Published
2020
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45. Medulloblastoma Down Under 2013: a report from the third annual meeting of the International Medulloblastoma Working Group.

Author

Gottardo NG, Hansford JR, McGlade JP, Alvaro F, Ashley DM, Bailey S, Baker DL, Bourdeaut F, Cho YJ, Clay M, Clifford SC, Cohn RJ, Cole CH, Dallas PB, Downie P, Doz F, Ellison DW, Endersby R, Fisher PG, Hassall T, Heath JA, Hii HL, Jones DT, Junckerstorff R, Kellie S, Kool M, Kotecha RS, Lichter P, Laughton SJ, Lee S, McCowage G, Northcott PA, Olson JM, Packer RJ, Pfister SM, Pietsch T, Pizer B, Pomeroy SL, Remke M, Robinson GW, Rutkowski S, Schoep T, Shelat AA, Stewart CF, Sullivan M, Taylor MD, Wainwright B, Walwyn T, Weiss WA, Williamson D, and Gajjar A

Subjects
Adolescent, Animals, Antineoplastic Agents therapeutic use, Australia, Child, Child, Preschool, Disease Models, Animal, Genomics, Humans, Mice, Cerebellar Neoplasms drug therapy, Cerebellar Neoplasms genetics, Cerebellar Neoplasms pathology, International Agencies, Medulloblastoma drug therapy, Medulloblastoma genetics, Medulloblastoma pathology
Abstract

Medulloblastoma is curable in approximately 70% of patients. Over the past decade, progress in improving survival using conventional therapies has stalled, resulting in reduced quality of life due to treatment-related side effects, which are a major concern in survivors. The vast amount of genomic and molecular data generated over the last 5-10 years encourages optimism that improved risk stratification and new molecular targets will improve outcomes. It is now clear that medulloblastoma is not a single-disease entity, but instead consists of at least four distinct molecular subgroups: WNT/Wingless, Sonic Hedgehog, Group 3, and Group 4. The Medulloblastoma Down Under 2013 meeting, which convened at Bunker Bay, Australia, brought together 50 leading clinicians and scientists. The 2-day agenda included focused sessions on pathology and molecular stratification, genomics and mouse models, high-throughput drug screening, and clinical trial design. The meeting established a global action plan to translate novel biologic insights and drug targeting into treatment regimens to improve outcomes. A consensus was reached in several key areas, with the most important being that a novel classification scheme for medulloblastoma based on the four molecular subgroups, as well as histopathologic features, should be presented for consideration in the upcoming fifth edition of the World Health Organization's classification of tumours of the central nervous system. Three other notable areas of agreement were as follows: (1) to establish a central repository of annotated mouse models that are readily accessible and freely available to the international research community; (2) to institute common eligibility criteria between the Children's Oncology Group and the International Society of Paediatric Oncology Europe and initiate joint or parallel clinical trials; (3) to share preliminary high-throughput screening data across discovery labs to hasten the development of novel therapeutics. Medulloblastoma Down Under 2013 was an effective forum for meaningful discussion, which resulted in enhancing international collaborative clinical and translational research of this rare disease. This template could be applied to other fields to devise global action plans addressing all aspects of a disease, from improved disease classification, treatment stratification, and drug targeting to superior treatment regimens to be assessed in cooperative international clinical trials.

Published
2014
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