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1. Translation of non-canonical open reading frames as a cancer cell survival mechanism in childhood medulloblastoma

Author

Hofman, Damon A., Ruiz-Orera, Jorge, Yannuzzi, Ian, Murugesan, Rakesh, Brown, Adam, Clauser, Karl R., Condurat, Alexandra L., van Dinter, Jip T., Engels, Sem A.G., Goodale, Amy, van der Lugt, Jasper, Abid, Tanaz, Wang, Li, Zhou, Kevin N., Vogelzang, Jayne, Ligon, Keith L., Phoenix, Timothy N., Roth, Jennifer A., Root, David E., Hubner, Norbert, Golub, Todd R., Bandopadhayay, Pratiti, van Heesch, Sebastiaan, and Prensner, John R.

Published
2024
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2. The landscape of tumor cell states and spatial organization in H3-K27M mutant diffuse midline glioma across age and location

Author

Liu, Ilon, Jiang, Li, Samuelsson, Erik R., Marco Salas, Sergio, Beck, Alexander, Hack, Olivia A., Jeong, Daeun, Shaw, McKenzie L., Englinger, Bernhard, LaBelle, Jenna, Mire, Hafsa M., Madlener, Sibylle, Mayr, Lisa, Quezada, Michael A., Trissal, Maria, Panditharatna, Eshini, Ernst, Kati J., Vogelzang, Jayne, Gatesman, Taylor A., Halbert, Matthew E., Palova, Hana, Pokorna, Petra, Sterba, Jaroslav, Slaby, Ondrej, Geyeregger, Rene, Diaz, Aaron, Findlay, Izac J., Dun, Matthew D., Resnick, Adam, Suvà, Mario L., Jones, David T. W., Agnihotri, Sameer, Svedlund, Jessica, Koschmann, Carl, Haberler, Christine, Czech, Thomas, Slavc, Irene, Cotter, Jennifer A., Ligon, Keith L., Alexandrescu, Sanda, Yung, W. K. Alfred, Arrillaga-Romany, Isabel, Gojo, Johannes, Monje, Michelle, Nilsson, Mats, and Filbin, Mariella G.

Published
2022
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3. Structural variants shape driver combinations and outcomes in pediatric high-grade glioma

Author

Dubois, Frank P. B., Shapira, Ofer, Greenwald, Noah F., Zack, Travis, Wala, Jeremiah, Tsai, Jessica W., Crane, Alexander, Baguette, Audrey, Hadjadj, Djihad, Harutyunyan, Ashot S., Kumar, Kiran H., Blattner-Johnson, Mirjam, Vogelzang, Jayne, Sousa, Cecilia, Kang, Kyung Shin, Sinai, Claire, Wang, Dayle K., Khadka, Prasidda, Lewis, Kathleen, Nguyen, Lan, Malkin, Hayley, Ho, Patricia, O’Rourke, Ryan, Zhang, Shu, Gold, Rose, Deng, Davy, Serrano, Jonathan, Snuderl, Matija, Jones, Chris, Wright, Karen D., Chi, Susan N., Grill, Jacques, Kleinman, Claudia L., Goumnerova, Liliana C., Jabado, Nada, Jones, David T. W., Kieran, Mark W., Ligon, Keith L., Beroukhim, Rameen, and Bandopadhayay, Pratiti

Published
2022
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5. PPM1D mutations are oncogenic drivers of de novo diffuse midline glioma formation

Author

Khadka, Prasidda, Reitman, Zachary J., Lu, Sophie, Buchan, Graham, Gionet, Gabrielle, Dubois, Frank, Carvalho, Diana M., Shih, Juliann, Zhang, Shu, Greenwald, Noah F., Zack, Travis, Shapira, Ofer, Pelton, Kristine, Hartley, Rachel, Bear, Heather, Georgis, Yohanna, Jarmale, Spandana, Melanson, Randy, Bonanno, Kevin, Schoolcraft, Kathleen, Miller, Peter G., Condurat, Alexandra L., Gonzalez, Elizabeth M., Qian, Kenin, Morin, Eric, Langhnoja, Jaldeep, Lupien, Leslie E., Rendo, Veronica, Digiacomo, Jeromy, Wang, Dayle, Zhou, Kevin, Kumbhani, Rushil, Guerra Garcia, Maria E., Sinai, Claire E., Becker, Sarah, Schneider, Rachel, Vogelzang, Jayne, Krug, Karsten, Goodale, Amy, Abid, Tanaz, Kalani, Zohra, Piccioni, Federica, Beroukhim, Rameen, Persky, Nicole S., Root, David E., Carcaboso, Angel M., Ebert, Benjamin L., Fuller, Christine, Babur, Ozgun, Kieran, Mark W., Jones, Chris, Keshishian, Hasmik, Ligon, Keith L., Carr, Steven A., Phoenix, Timothy N., and Bandopadhayay, Pratiti

Published
2022
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7. DDDR-09. FUNCTIONAL GENOMICS AND CHEMOTHERAPY RESISTANCE SCREENING IDENTIFIES BIOMARKERS AND TARGETABLE MECHANISMS OF CCNU RESISTANCE IN GLIOMAS

Author

Hajal, Cynthia, primary, Dalin, Simona, additional, Raskind, Greg, additional, Cusick, Margaret, additional, Malinowski, Seth, additional, Ito, Jakob, additional, Bossi, Connor, additional, Vogelzang, Jayne, additional, Bellamy, Charlotte, additional, Salhi, Lisa, additional, Bielle, Franck, additional, Getz, Gad, additional, Bandopadhayay, Pratiti, additional, Touat, Mehdi, additional, Beroukhim, Rameen, additional, and Ligon, Keith, additional

Published
2023
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11. Molecular Landscape and Contemporary Prognostic Signatures of Gliomas

Author

Ghosh, Hia S., primary, Patel, Ruchit V., additional, Woodward, Eleanor, additional, Greenwald, Noah F., additional, Bhave, Varun M., additional, Maury, Eduardo A., additional, Cello, Gregory, additional, Hoffman, Samantha E., additional, Li, Yvonne, additional, Gupta, Hersh, additional, Spurr, Liam F., additional, Vogelzang, Jayne, additional, Touat, Mehdi, additional, Dubois, Frank, additional, Cherniack, Andrew D., additional, Guo, Xiaopeng, additional, Tavakol, Sherwin, additional, Cioffi, Gino, additional, Lindeman, Neal I., additional, Ligon, Azra H., additional, Chiocca, E. Antonio, additional, Reardon, David A., additional, Wen, Patrick Y., additional, Meredith, David, additional, Santagata, Sandro, additional, Barnholtz-Sloan, Jill S., additional, Ligon, Keith L., additional, Beroukhim, Rameen, additional, and Bi, Wenya Linda, additional

Published
2023
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12. Supplementary Figure 6 from ALK Amplification and Rearrangements Are Recurrent Targetable Events in Congenital and Adult Glioblastoma

Author

Blandin, Anne-Florence, primary, Giglio, Ross, primary, Graham, Maya Srikanth, primary, Garcia, Guadalupe, primary, Malinowski, Seth, primary, Woods, Jared K., primary, Ramkissoon, Shakti, primary, Ramkissoon, Lori, primary, Dubois, Frank, primary, Schoolcraft, Kathleen, primary, Tsai, Jessica, primary, Wang, Dayle, primary, Jones, Robert, primary, Vogelzang, Jayne, primary, Pelton, Kristine, primary, Becker, Sarah, primary, Watkinson, Fiona, primary, Sinai, Claire, primary, Cohen, Elizabeth F., primary, Booker, Matthew A., primary, Tolstorukov, Michael Y., primary, Haemels, Veerle, primary, Goumnerova, Liliana, primary, Wright, Karen, primary, Kieran, Mark, primary, Fehnel, Katie, primary, Reardon, David, primary, Tauziede-Espariat, Arnault, primary, Lulla, Rishi, primary, Carcamo, Benjamin, primary, Chaleff, Stanley, primary, Charest, Alain, primary, De Smet, Frederik, primary, Ligon, Azra H., primary, Dubuc, Adrian, primary, Pages, Melanie, primary, Varlet, Pascale, primary, Wen, Patrick Y., primary, Alexander, Brian M., primary, Chi, Susan, primary, Alexandrescu, Sanda, primary, Kittler, Ralf, primary, Bachoo, Robert, primary, Bandopadhayay, Pratiti, primary, Beroukhim, Rameen, primary, and Ligon, Keith L., primary

Published
2023
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13. Data from ALK Amplification and Rearrangements Are Recurrent Targetable Events in Congenital and Adult Glioblastoma

Author

Blandin, Anne-Florence, primary, Giglio, Ross, primary, Graham, Maya Srikanth, primary, Garcia, Guadalupe, primary, Malinowski, Seth, primary, Woods, Jared K., primary, Ramkissoon, Shakti, primary, Ramkissoon, Lori, primary, Dubois, Frank, primary, Schoolcraft, Kathleen, primary, Tsai, Jessica, primary, Wang, Dayle, primary, Jones, Robert, primary, Vogelzang, Jayne, primary, Pelton, Kristine, primary, Becker, Sarah, primary, Watkinson, Fiona, primary, Sinai, Claire, primary, Cohen, Elizabeth F., primary, Booker, Matthew A., primary, Tolstorukov, Michael Y., primary, Haemels, Veerle, primary, Goumnerova, Liliana, primary, Wright, Karen, primary, Kieran, Mark, primary, Fehnel, Katie, primary, Reardon, David, primary, Tauziede-Espariat, Arnault, primary, Lulla, Rishi, primary, Carcamo, Benjamin, primary, Chaleff, Stanley, primary, Charest, Alain, primary, De Smet, Frederik, primary, Ligon, Azra H., primary, Dubuc, Adrian, primary, Pages, Melanie, primary, Varlet, Pascale, primary, Wen, Patrick Y., primary, Alexander, Brian M., primary, Chi, Susan, primary, Alexandrescu, Sanda, primary, Kittler, Ralf, primary, Bachoo, Robert, primary, Bandopadhayay, Pratiti, primary, Beroukhim, Rameen, primary, and Ligon, Keith L., primary

Published
2023
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14. Translation of non-canonical open reading frames as a cancer cell survival mechanism in childhood medulloblastoma

Author

Hofman, Damon A, primary, Ruiz-Orera, Jorge, additional, Yannuzzi, Ian, additional, Murugesan, Rakesh, additional, Brown, Adam, additional, Clauser, Karl R, additional, Condurat, Alexandra L, additional, van Dinter, Jip T, additional, Engels, Sem A.G., additional, Goodale, Amy, additional, van der Lugt, Jasper, additional, Abid, Tanaz, additional, Wang, Li, additional, Zhou, Kevin N, additional, Vogelzang, Jayne, additional, Ligon, Keith L, additional, Phoenix, Timothy N, additional, Roth, Jennifer A, additional, Root, David E, additional, Hubner, Norbert, additional, Golub, Todd R, additional, Bandopadhayay, Pratiti, additional, van Heesch, Sebastiaan, additional, and Prensner, John R, additional

Published
2023
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15. Abstract 1201: ALK amplification and rearrangements are recurrent targetable events in congenital and adult glioblastoma

Author

Blandin, Anne-Florence, primary, Giglio, Ross, additional, Graham, Maya Srikanth, additional, Garcia, Guadalupe, additional, Malinowski, Seth, additional, Woods, Jared K., additional, Ramkissoon, Shakti, additional, Ramkissoon, Lori, additional, Dubois, Frank, additional, Schoolcraft, Kate, additional, Tsai, Jessica W., additional, Wang, Dayle K., additional, Jones, Robert, additional, Vogelzang, Jayne, additional, Pelton, Kristine, additional, Becker, Sarah, additional, Watkinson, Fiona, additional, Sinai, Claire, additional, Cohen, Elizabeth, additional, Booker, Matthew, additional, Tolstorukov, Michael, additional, Haemels, Veerle, additional, Goumnerova, Liliana, additional, Wright, Karen, additional, Kieran, Mark, additional, Fehnel, Katie, additional, Reardon, David, additional, Tauziede-Espariat, Arnault, additional, Lulla, Rishi, additional, Carcamo, Benjamin, additional, Chaleff, Stanley, additional, Charest, Alain, additional, De Smet, Frederik, additional, Ligon, Azra H., additional, Dubuc, Adrian, additional, Pagès, Melanie, additional, Varlet, Pascale, additional, Wen, Patrick, additional, Alexander, Brian, additional, Chi, Susan, additional, Alexandrescu, Sanda, additional, Kittler, Ralf, additional, Bachoo, Robert, additional, Beroukhim, Rameen, additional, Bandopadhayay, Pratiti, additional, and Ligon, Keith L., additional

Published
2023
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16. Abstract 3562: Dissecting mechanisms underlying FOXR2-mediated gliomagenesis in diffuse midline gliomas

Author

Tsai, Jessica W., primary, Cejas, Paloma, additional, Coppola, Marissa, additional, Wang, Dayle K., additional, Patel, Smruti, additional, Wu, David W., additional, Arounleut, Phonepasong, additional, Wei, Xin, additional, Zhou, Ningxuan, additional, Syamala, Sudeepa, additional, Dubois, Frank P., additional, Pelton, Kristine, additional, Vogelzang, Jayne, additional, Sousa, Cecilia, additional, Baguette, Audrey, additional, Chen, Xiaolong, additional, Condurat, Alexandra L., additional, Dixon-Clarke, Sarah E., additional, Charles, Annarah, additional, Zhou, Kevin N., additional, Lu, Sophie D., additional, Gonzalez, Elizabeth M., additional, Chacon, Madison S., additional, Digiacomo, Jeromy J., additional, Kumbhani, Rushil, additional, Novikov, Dana, additional, Tsoli, Maria, additional, Ziegler, David S., additional, Dirksen, Uta, additional, Jager, Natalie, additional, Balasubramanian, Gnana Prakash, additional, Kramm, Christof M., additional, Nathrath, Michaela, additional, Bielack, Stefan, additional, Baker, Suzanne J., additional, Zhang, Jinghui, additional, McFarland, James M., additional, Getz, Gad, additional, Aguet, Francois, additional, Jabado, Nada, additional, Witt, Olaf, additional, Pfister, Stefan M., additional, Ligon, Keith L., additional, Hovestadt, Volker, additional, Kleinman, Claudia, additional, Long, Henry, additional, Jones, David T., additional, Bandopadhayay, Pratiti, additional, and Phoenix, Timothy N., additional

Published
2023
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17. Supplementary Figure 5 from ALK Amplification and Rearrangements Are Recurrent Targetable Events in Congenital and Adult Glioblastoma

Author

Blandin, Anne-Florence, primary, Giglio, Ross, primary, Graham, Maya Srikanth, primary, Garcia, Guadalupe, primary, Malinowski, Seth, primary, Woods, Jared K., primary, Ramkissoon, Shakti, primary, Ramkissoon, Lori, primary, Dubois, Frank, primary, Schoolcraft, Kathleen, primary, Tsai, Jessica, primary, Wang, Dayle, primary, Jones, Robert, primary, Vogelzang, Jayne, primary, Pelton, Kristine, primary, Becker, Sarah, primary, Watkinson, Fiona, primary, Sinai, Claire, primary, Cohen, Elizabeth F., primary, Booker, Matthew A., primary, Tolstorukov, Michael Y., primary, Haemels, Veerle, primary, Goumnerova, Liliana, primary, Wright, Karen, primary, Kieran, Mark, primary, Fehnel, Katie, primary, Reardon, David, primary, Tauziede-Espariat, Arnault, primary, Lulla, Rishi, primary, Carcamo, Benjamin, primary, Chaleff, Stanley, primary, Charest, Alain, primary, De Smet, Frederik, primary, Ligon, Azra H., primary, Dubuc, Adrian, primary, Pages, Melanie, primary, Varlet, Pascale, primary, Wen, Patrick Y., primary, Alexander, Brian M., primary, Chi, Susan, primary, Alexandrescu, Sanda, primary, Kittler, Ralf, primary, Bachoo, Robert, primary, Bandopadhayay, Pratiti, primary, Beroukhim, Rameen, primary, and Ligon, Keith L., primary

Published
2023
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18. Supplementary Figure 4 from ALK Amplification and Rearrangements Are Recurrent Targetable Events in Congenital and Adult Glioblastoma

Author

Blandin, Anne-Florence, primary, Giglio, Ross, primary, Graham, Maya Srikanth, primary, Garcia, Guadalupe, primary, Malinowski, Seth, primary, Woods, Jared K., primary, Ramkissoon, Shakti, primary, Ramkissoon, Lori, primary, Dubois, Frank, primary, Schoolcraft, Kathleen, primary, Tsai, Jessica, primary, Wang, Dayle, primary, Jones, Robert, primary, Vogelzang, Jayne, primary, Pelton, Kristine, primary, Becker, Sarah, primary, Watkinson, Fiona, primary, Sinai, Claire, primary, Cohen, Elizabeth F., primary, Booker, Matthew A., primary, Tolstorukov, Michael Y., primary, Haemels, Veerle, primary, Goumnerova, Liliana, primary, Wright, Karen, primary, Kieran, Mark, primary, Fehnel, Katie, primary, Reardon, David, primary, Tauziede-Espariat, Arnault, primary, Lulla, Rishi, primary, Carcamo, Benjamin, primary, Chaleff, Stanley, primary, Charest, Alain, primary, De Smet, Frederik, primary, Ligon, Azra H., primary, Dubuc, Adrian, primary, Pages, Melanie, primary, Varlet, Pascale, primary, Wen, Patrick Y., primary, Alexander, Brian M., primary, Chi, Susan, primary, Alexandrescu, Sanda, primary, Kittler, Ralf, primary, Bachoo, Robert, primary, Bandopadhayay, Pratiti, primary, Beroukhim, Rameen, primary, and Ligon, Keith L., primary

Published
2023
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19. Supplementary Figure 3 from ALK Amplification and Rearrangements Are Recurrent Targetable Events in Congenital and Adult Glioblastoma

Author

Blandin, Anne-Florence, primary, Giglio, Ross, primary, Graham, Maya Srikanth, primary, Garcia, Guadalupe, primary, Malinowski, Seth, primary, Woods, Jared K., primary, Ramkissoon, Shakti, primary, Ramkissoon, Lori, primary, Dubois, Frank, primary, Schoolcraft, Kathleen, primary, Tsai, Jessica, primary, Wang, Dayle, primary, Jones, Robert, primary, Vogelzang, Jayne, primary, Pelton, Kristine, primary, Becker, Sarah, primary, Watkinson, Fiona, primary, Sinai, Claire, primary, Cohen, Elizabeth F., primary, Booker, Matthew A., primary, Tolstorukov, Michael Y., primary, Haemels, Veerle, primary, Goumnerova, Liliana, primary, Wright, Karen, primary, Kieran, Mark, primary, Fehnel, Katie, primary, Reardon, David, primary, Tauziede-Espariat, Arnault, primary, Lulla, Rishi, primary, Carcamo, Benjamin, primary, Chaleff, Stanley, primary, Charest, Alain, primary, De Smet, Frederik, primary, Ligon, Azra H., primary, Dubuc, Adrian, primary, Pages, Melanie, primary, Varlet, Pascale, primary, Wen, Patrick Y., primary, Alexander, Brian M., primary, Chi, Susan, primary, Alexandrescu, Sanda, primary, Kittler, Ralf, primary, Bachoo, Robert, primary, Bandopadhayay, Pratiti, primary, Beroukhim, Rameen, primary, and Ligon, Keith L., primary

Published
2023
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20. Supplementary Tables 1-8 from ALK Amplification and Rearrangements Are Recurrent Targetable Events in Congenital and Adult Glioblastoma

Author

Blandin, Anne-Florence, primary, Giglio, Ross, primary, Graham, Maya Srikanth, primary, Garcia, Guadalupe, primary, Malinowski, Seth, primary, Woods, Jared K., primary, Ramkissoon, Shakti, primary, Ramkissoon, Lori, primary, Dubois, Frank, primary, Schoolcraft, Kathleen, primary, Tsai, Jessica, primary, Wang, Dayle, primary, Jones, Robert, primary, Vogelzang, Jayne, primary, Pelton, Kristine, primary, Becker, Sarah, primary, Watkinson, Fiona, primary, Sinai, Claire, primary, Cohen, Elizabeth F., primary, Booker, Matthew A., primary, Tolstorukov, Michael Y., primary, Haemels, Veerle, primary, Goumnerova, Liliana, primary, Wright, Karen, primary, Kieran, Mark, primary, Fehnel, Katie, primary, Reardon, David, primary, Tauziede-Espariat, Arnault, primary, Lulla, Rishi, primary, Carcamo, Benjamin, primary, Chaleff, Stanley, primary, Charest, Alain, primary, De Smet, Frederik, primary, Ligon, Azra H., primary, Dubuc, Adrian, primary, Pages, Melanie, primary, Varlet, Pascale, primary, Wen, Patrick Y., primary, Alexander, Brian M., primary, Chi, Susan, primary, Alexandrescu, Sanda, primary, Kittler, Ralf, primary, Bachoo, Robert, primary, Bandopadhayay, Pratiti, primary, Beroukhim, Rameen, primary, and Ligon, Keith L., primary

Published
2023
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21. Supplementary Table from FOXR2 Is an Epigenetically Regulated Pan-Cancer Oncogene That Activates ETS Transcriptional Circuits

Author

Tsai, Jessica W., primary, Cejas, Paloma, primary, Wang, Dayle K., primary, Patel, Smruti, primary, Wu, David W., primary, Arounleut, Phonepasong, primary, Wei, Xin, primary, Zhou, Ningxuan, primary, Syamala, Sudeepa, primary, Dubois, Frank P.B., primary, Crane, Alexander, primary, Pelton, Kristine, primary, Vogelzang, Jayne, primary, Sousa, Cecilia, primary, Baguette, Audrey, primary, Chen, Xiaolong, primary, Condurat, Alexandra L., primary, Dixon-Clarke, Sarah E., primary, Zhou, Kevin N., primary, Lu, Sophie D., primary, Gonzalez, Elizabeth M., primary, Chacon, Madison S., primary, Digiacomo, Jeromy J., primary, Kumbhani, Rushil, primary, Novikov, Dana, primary, Hunter, J'Ya, primary, Tsoli, Maria, primary, Ziegler, David S., primary, Dirksen, Uta, primary, Jager, Natalie, primary, Balasubramanian, Gnana Prakash, primary, Kramm, Christof M., primary, Nathrath, Michaela, primary, Bielack, Stefan, primary, Baker, Suzanne J., primary, Zhang, Jinghui, primary, McFarland, James M., primary, Getz, Gad, primary, Aguet, François, primary, Jabado, Nada, primary, Witt, Olaf, primary, Pfister, Stefan M., primary, Ligon, Keith L., primary, Hovestadt, Volker, primary, Kleinman, Claudia L., primary, Long, Henry, primary, Jones, David T.W., primary, Bandopadhayay, Pratiti, primary, and Phoenix, Timothy N., primary

Published
2023
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22. Supplementary Figure from FOXR2 Is an Epigenetically Regulated Pan-Cancer Oncogene That Activates ETS Transcriptional Circuits

Author

Tsai, Jessica W., primary, Cejas, Paloma, primary, Wang, Dayle K., primary, Patel, Smruti, primary, Wu, David W., primary, Arounleut, Phonepasong, primary, Wei, Xin, primary, Zhou, Ningxuan, primary, Syamala, Sudeepa, primary, Dubois, Frank P.B., primary, Crane, Alexander, primary, Pelton, Kristine, primary, Vogelzang, Jayne, primary, Sousa, Cecilia, primary, Baguette, Audrey, primary, Chen, Xiaolong, primary, Condurat, Alexandra L., primary, Dixon-Clarke, Sarah E., primary, Zhou, Kevin N., primary, Lu, Sophie D., primary, Gonzalez, Elizabeth M., primary, Chacon, Madison S., primary, Digiacomo, Jeromy J., primary, Kumbhani, Rushil, primary, Novikov, Dana, primary, Hunter, J'Ya, primary, Tsoli, Maria, primary, Ziegler, David S., primary, Dirksen, Uta, primary, Jager, Natalie, primary, Balasubramanian, Gnana Prakash, primary, Kramm, Christof M., primary, Nathrath, Michaela, primary, Bielack, Stefan, primary, Baker, Suzanne J., primary, Zhang, Jinghui, primary, McFarland, James M., primary, Getz, Gad, primary, Aguet, François, primary, Jabado, Nada, primary, Witt, Olaf, primary, Pfister, Stefan M., primary, Ligon, Keith L., primary, Hovestadt, Volker, primary, Kleinman, Claudia L., primary, Long, Henry, primary, Jones, David T.W., primary, Bandopadhayay, Pratiti, primary, and Phoenix, Timothy N., primary

Published
2023
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23. Data from FOXR2 Is an Epigenetically Regulated Pan-Cancer Oncogene That Activates ETS Transcriptional Circuits

Author

Tsai, Jessica W., primary, Cejas, Paloma, primary, Wang, Dayle K., primary, Patel, Smruti, primary, Wu, David W., primary, Arounleut, Phonepasong, primary, Wei, Xin, primary, Zhou, Ningxuan, primary, Syamala, Sudeepa, primary, Dubois, Frank P.B., primary, Crane, Alexander, primary, Pelton, Kristine, primary, Vogelzang, Jayne, primary, Sousa, Cecilia, primary, Baguette, Audrey, primary, Chen, Xiaolong, primary, Condurat, Alexandra L., primary, Dixon-Clarke, Sarah E., primary, Zhou, Kevin N., primary, Lu, Sophie D., primary, Gonzalez, Elizabeth M., primary, Chacon, Madison S., primary, Digiacomo, Jeromy J., primary, Kumbhani, Rushil, primary, Novikov, Dana, primary, Hunter, J'Ya, primary, Tsoli, Maria, primary, Ziegler, David S., primary, Dirksen, Uta, primary, Jager, Natalie, primary, Balasubramanian, Gnana Prakash, primary, Kramm, Christof M., primary, Nathrath, Michaela, primary, Bielack, Stefan, primary, Baker, Suzanne J., primary, Zhang, Jinghui, primary, McFarland, James M., primary, Getz, Gad, primary, Aguet, François, primary, Jabado, Nada, primary, Witt, Olaf, primary, Pfister, Stefan M., primary, Ligon, Keith L., primary, Hovestadt, Volker, primary, Kleinman, Claudia L., primary, Long, Henry, primary, Jones, David T.W., primary, Bandopadhayay, Pratiti, primary, and Phoenix, Timothy N., primary

Published
2023
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24. ALK Amplification and Rearrangements Are Recurrent Targetable Events in Congenital and Adult Glioblastoma

Author

Blandin, Anne-Florence, primary, Giglio, Ross, additional, Graham, Maya Srikanth, additional, Garcia, Guadalupe, additional, Malinowski, Seth, additional, Woods, Jared K., additional, Ramkissoon, Shakti, additional, Ramkissoon, Lori, additional, Dubois, Frank, additional, Schoolcraft, Kathleen, additional, Tsai, Jessica, additional, Wang, Dayle, additional, Jones, Robert, additional, Vogelzang, Jayne, additional, Pelton, Kristine, additional, Becker, Sarah, additional, Watkinson, Fiona, additional, Sinai, Claire, additional, Cohen, Elizabeth F., additional, Booker, Matthew A., additional, Tolstorukov, Michael Y., additional, Haemels, Veerle, additional, Goumnerova, Liliana, additional, Wright, Karen, additional, Kieran, Mark, additional, Fehnel, Katie, additional, Reardon, David, additional, Tauziede-Espariat, Arnault, additional, Lulla, Rishi, additional, Carcamo, Benjamin, additional, Chaleff, Stanley, additional, Charest, Alain, additional, De Smet, Frederik, additional, Ligon, Azra H., additional, Dubuc, Adrian, additional, Pages, Melanie, additional, Varlet, Pascale, additional, Wen, Patrick Y., additional, Alexander, Brian M., additional, Chi, Susan, additional, Alexandrescu, Sanda, additional, Kittler, Ralf, additional, Bachoo, Robert, additional, Bandopadhayay, Pratiti, additional, Beroukhim, Rameen, additional, and Ligon, Keith L., additional

Published
2023
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25. Integrated response analysis of pediatric low-grade gliomas during and after targeted therapy treatment

Author

Tsai, Jessica W, primary, Choi, Jungwhan John, additional, Ouaalam, Hakim, additional, Murillo, Efrain Aguilar, additional, Yeo, Kee Kiat, additional, Vogelzang, Jayne, additional, Sousa, Cecilia, additional, Woods, Jared K, additional, Ligon, Keith L, additional, Warfield, Simon K, additional, Bandopadhayay, Pratiti, additional, and Cooney, Tabitha M, additional

Published
2022
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28. PATH-15. THE PROGNOSTIC IMPLICATION OF MGMT PROMOTER METHYLATION IN IDH-MUTANT GLIOMAS

Author

Youssef, Gilbert, primary, Aquilanti, Elisa, additional, Muzikansky, Alona, additional, Miller, Julie, additional, Vogelzang, Jayne, additional, Lapinskas, Emily, additional, Lim-Fat, Mary Jane, additional, Rahman, Rifaquat, additional, Beroukhim, Rameen, additional, Bi, Wenya Linda, additional, Chukwueke, Ugonma, additional, Castro, Luis Nicolas Gonzalez, additional, Lee, Eudocia, additional, McFaline-Figueroa, J Ricardo, additional, Nayak, Lakshmi, additional, Reardon, David A, additional, Ligon, Keith, additional, and Wen, Patrick Y, additional

Published
2022
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29. FOXR2 Is an Epigenetically Regulated Pan-Cancer Oncogene That Activates ETS Transcriptional Circuits

Author

Tsai, Jessica W., primary, Cejas, Paloma, additional, Wang, Dayle K., additional, Patel, Smruti, additional, Wu, David W., additional, Arounleut, Phonepasong, additional, Wei, Xin, additional, Zhou, Ningxuan, additional, Syamala, Sudeepa, additional, Dubois, Frank P.B., additional, Crane, Alexander, additional, Pelton, Kristine, additional, Vogelzang, Jayne, additional, Sousa, Cecilia, additional, Baguette, Audrey, additional, Chen, Xiaolong, additional, Condurat, Alexandra L., additional, Dixon-Clarke, Sarah E., additional, Zhou, Kevin N., additional, Lu, Sophie D., additional, Gonzalez, Elizabeth M., additional, Chacon, Madison S., additional, Digiacomo, Jeromy J., additional, Kumbhani, Rushil, additional, Novikov, Dana, additional, Hunter, J'Ya, additional, Tsoli, Maria, additional, Ziegler, David S., additional, Dirksen, Uta, additional, Jager, Natalie, additional, Balasubramanian, Gnana Prakash, additional, Kramm, Christof M., additional, Nathrath, Michaela, additional, Bielack, Stefan, additional, Baker, Suzanne J., additional, Zhang, Jinghui, additional, McFarland, James M., additional, Getz, Gad, additional, Aguet, François, additional, Jabado, Nada, additional, Witt, Olaf, additional, Pfister, Stefan M., additional, Ligon, Keith L., additional, Hovestadt, Volker, additional, Kleinman, Claudia L., additional, Long, Henry, additional, Jones, David T.W., additional, Bandopadhayay, Pratiti, additional, and Phoenix, Timothy N., additional

Published
2022
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30. Abstract 5730: FOXR2 is an oncogenic driver across adult and pediatric cancers

Author

Tsai, Jessica W., primary, Cejas, Paloma, additional, Wang, Dayle K., additional, Patel, Smruti, additional, Wu, David W., additional, Arounleut, Phonepasong, additional, Wei, Xin, additional, Zhou, Ningxuan, additional, Syamala, Sudeepa, additional, Dubois, Frank P., additional, Pelton, Kristine, additional, Vogelzang, Jayne, additional, Sousa, Cecilia, additional, Baguette, Audrey, additional, Chen, Xiaolong, additional, Condurat, Alexandra L., additional, Dixon-Clarke, Sarah E., additional, Zhou, Kevin N., additional, Lu, Sophie D., additional, Gonzalez, Elizabeth M., additional, Chacon, Madison S., additional, Digiacomo, Jeromy J., additional, Kumbhani, Rushil, additional, Novikov, Dana, additional, Hunter, J'Ya, additional, Tsoli, Maria, additional, Ziegler, David S., additional, Dirksen, Uta, additional, Jager, Natalie, additional, Balasubramanian, Gnana Prakash, additional, Kramm, Christof M., additional, Nathrath, Michaela, additional, Bielack, Stefan, additional, Baker, Suzanne J., additional, Zhang, Jinghui, additional, McFarland, James M., additional, Getz, Gad, additional, Aguet, Francois, additional, Jabado, Nada, additional, Witt, Olaf, additional, Pfister, Stefan M., additional, Ligon, Keith L., additional, Kleinman, Claudia, additional, Long, Henry, additional, Jones, David T., additional, Bandopadhayay, Pratiti, additional, and Phoenix, Timothy N., additional

Published
2022
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31. HGG-60. Structural variants shape driver combinations and outcomes in pediatric high-grade glioma

Author

Dubois, Frank, primary, Shapira, Ofer, additional, Greenwald, Noah, additional, Zack, Travis, additional, Wala, Jeremiah, additional, Tsai, Jessica, additional, Crane, Alexander, additional, Baguette, Audrey, additional, Hadjadj, Djihad, additional, Harutyunyan, Ashot, additional, Kumar, Kiran, additional, Blattner-Johnson, Mirjam, additional, Vogelzang, Jayne, additional, Sousa, Cecilia, additional, Kang, Kyung Shin, additional, Sinai, Claire, additional, Wang, Dayle, additional, Khadka, Prasidda, additional, Malkin, Hayley, additional, Ho, Patricia, additional, O'Rourke, Ryan, additional, Zhang, Shu, additional, Gold, Rose, additional, Deng, Davy, additional, Serrano, Jonathan, additional, Snuderl, Matija, additional, Jones, Chris, additional, Wright, Karen, additional, Chi, Susan, additional, Grill, Jacques, additional, Kleinman, Claudia, additional, Goumnerova, Liliana, additional, Jabado, Nada, additional, Jones, David, additional, Kieran, Mark, additional, Ligon, Keith, additional, Beroukhim, Rameen, additional, and Bandopadhayay, Pratiti, additional

Published
2022
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32. RARE-22 Characterizing the landscape of structural variants in adamantinomatous craniopharyngioma

Author

Jomaa, Danny, primary, Khadka, Prasidda, additional, Novikov, Dana, additional, Condurat, Alexandra L, additional, Tsai, Jessica W, additional, Dubois, Frank, additional, Zhang, Shu, additional, Zhou, Kevin, additional, Gold, Rose, additional, Sousa, Cecilia, additional, Vogelzang, Jayne, additional, Prince, Eric, additional, Lu, Sophie, additional, Slivova, Veronika, additional, Otto, Georg W, additional, Hereza, Sergi Castellano, additional, Ashley, David, additional, Cohen-Gadol, Aaron A, additional, Thompson, Eric, additional, Beroukhim, Rameen, additional, Apps, John, additional, Martinez-Barbera, Juan Pedro, additional, Hankinson, Todd, additional, and Bandopadhayay, Pratiti, additional

Published
2022
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33. DIPG-19. FOXR2 is an oncogenic driver across pediatric and adult cancers

Author

Tsai, Jessica W, primary, Cejas, Paloma, additional, Wang, Dayle K, additional, Patel, Smruti, additional, Wu, David W, additional, Arounleut, Phonepasong, additional, Wei, Xin, additional, Zhou, Ningxuan, additional, Syamala, Sudeepa, additional, Dubois, Frank P B, additional, Crane, Alexander, additional, Pelton, Kristine, additional, Vogelzang, Jayne, additional, Sousa, Cecilia, additional, Baguette, Audrey, additional, Chen, Xiaolong, additional, Condurat, Alexandra L, additional, Dixon-Clarke, Sarah E, additional, Zhou, Kevin N, additional, Lu, Sophie D, additional, Gonzalez, Elizabeth M, additional, Chacon, Madison S, additional, Digiacomo, Jeromy J, additional, Kumbhani, Rushil, additional, Novikov, Dana, additional, Hunter, J'Ya, additional, Tsoli, Maria, additional, Ziegler, David S, additional, Dirksen, Uta, additional, Jager, Natalie, additional, Balasubramanian, Gnana Prakash, additional, Kramm, Christof M, additional, Nathrath, Michaela, additional, Bielack, Stefan, additional, Baker, Suzanne J, additional, Zhang, Jinghui, additional, McFarland, James M, additional, Getz, Gad, additional, Aguet, Francois, additional, Jabado, Nada, additional, Witt, Olaf, additional, Pfister, Stefan M, additional, Ligon, Keith L, additional, Kleinman, Claudia L, additional, Long, Henry, additional, Jones, David T W, additional, Bandopadhayay, Pratiti, additional, and Phoenix, Timothy N, additional

Published
2022
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34. LGG-32. Integrated biologic, radiologic and clinical analysis of pediatric low-grade gliomas during and after targeted therapy treatment

Author

Tsai, Jessica W, primary, Choi, Jungwhan John, additional, Ouaalam, Hakim, additional, Murrillo, Efrain Aguilar, additional, Yeo, Kee Kiat, additional, Vogelzang, Jayne, additional, Sousa, Cecilia, additional, Woods, Jared K, additional, Ligon, Keith L, additional, Warfield, Simon K, additional, Bandopadhayay, Pratiti, additional, and Cooney, Tabitha M, additional

Published
2022
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35. Multi-institutional study of the frequency, genomic landscape, and outcome of IDH-mutant glioma in pediatrics

Author

Yeo, Kee Kiat, primary, Alexandrescu, Sanda, additional, Cotter, Jennifer A, additional, Vogelzang, Jayne, additional, Bhave, Varun, additional, Li, Marilyn M, additional, Ji, Jianling, additional, Benhamida, Jamal K, additional, Rosenblum, Marc K, additional, Bale, Tejus A, additional, Bouvier, Nancy, additional, Kaneva, Kristiyana, additional, Rosenberg, Tom, additional, Lim-Fat, Mary Jane, additional, Ghosh, Hia, additional, Martinez, Migdalia, additional, Aguilera, Dolly, additional, Smith, Amy, additional, Goldman, Stewart, additional, Diamond, Eli L, additional, Gavrilovic, Igor, additional, MacDonald, Tobey J, additional, Wood, Matthew D, additional, Nazemi, Kellie J, additional, Truong, AiLien, additional, Cluster, Andrew, additional, Ligon, Keith L, additional, Cole, Kristina, additional, Bi, Wenya Linda, additional, Margol, Ashley S, additional, Karajannis, Matthias A, additional, and Wright, Karen D, additional

Published
2022
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36. Multi-institutional study of the frequency, genomic landscape, and outcome of IDH-mutant glioma in pediatrics.

Author

Yeo, Kee Kiat, Alexandrescu, Sanda, Cotter, Jennifer A, Vogelzang, Jayne, Bhave, Varun, Li, Marilyn M, Ji, Jianling, Benhamida, Jamal K, Rosenblum, Marc K, Bale, Tejus A, Bouvier, Nancy, Kaneva, Kristiyana, Rosenberg, Tom, Lim-Fat, Mary Jane, Ghosh, Hia, Martinez, Migdalia, Aguilera, Dolly, Smith, Amy, Goldman, Stewart, and Diamond, Eli L

Published
2023
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39. Structural variants shape driver combinations and outcomes in pediatric high-grade glioma

Author

Dubois, Frank, primary, Dubois, Frank, additional, Shapira, Ofer, additional, Greenwald, Noah, additional, Zack, Travis, additional, Wala, Jeremiah, additional, Tsai, Jessica, additional, Hadjadj, Djihad, additional, Crane, Alexander, additional, Harutyunyan, Ashot, additional, Kumar, Kiran, additional, Blattner-Johnson, Mirjam, additional, Vogelzang, Jayne, additional, Sousa, Cecila, additional, Kang, Kyung Shin, additional, Sinai, Claire, additional, Wang, Dayle, additional, Khadka, Prasidda, additional, Lewis, Kathleen, additional, Nguyen, Lan, additional, Malkin, Hayley, additional, Ho, Patricia, additional, O’Rourke, Ryan, additional, Gold, Rose, additional, Deng, Davy, additional, Serrano, Jonathan, additional, Snuderl, Matija, additional, Wright, Karen, additional, Chi, Susan, additional, Grill, Jacques, additional, Kleiman, Claudia, additional, Goumnerova, Liliana, additional, Jabado, Nada, additional, Jones, David, additional, Kieran, Mark, additional, Ligon, Keith, additional, Beroukhim, Rameen, additional, and Bandopadhayay, Pratiti, additional

Published
2021
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40. EPID-11. A MULTI-INSTITUTIONAL COMPARATIVE ANALYSIS OF THE CLINICAL, GENOMIC, AND SURVIVAL CHARACTERISTICS OF PEDIATRIC, YOUNG ADULT AND OLDER ADULT PATIENTS WITH IDH-MUTANT GLIOMA

Author

Jane Lim-Fat, Mary, primary, Vogelzang, Jayne, additional, Woodward, Eleanor, additional, McGovern, Alana, additional, Ma, Clement, additional, Al-sayegh, Hasan, additional, Alexandrescu, Sanda, additional, Margol, Ashley, additional, Cotter, Jennifer, additional, Cole, Kristina, additional, Li, Marilyn, additional, Owens, Emily, additional, Smith, Amy, additional, Goldman, Stewart, additional, Kaneva, Kristiyana, additional, Burton, Emily, additional, Nazemi, Kellie, additional, Wright, Karen, additional, Wen, Patrick, additional, Warren, Katherine, additional, Touat, Mehdi, additional, Reardon, David, additional, Bi, Wenya Linda, additional, Ligon, Keith, additional, and Yeo, Kee Kiat, additional

Published
2020
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41. PATH-03. CLINICAL UTILITY OF NEXT GENERATION SEQUENCING IN IDH-WILDTYPE GLIOBLASTOMA: THE DANA-FARBER CANCER INSTITUTE EXPERIENCE

Author

Jane Lim-Fat, Mary, primary, Youssef, Gilbert, additional, Touat, Mehdi, additional, Iorgulescu, Bryan, additional, Woodward, Eleanor, additional, Whorral, Sydney, additional, Allen, Marie, additional, Vogelzang, Jayne, additional, Pisano, William, additional, Rahman, Rifaquat, additional, Chukwueke, Ugonma, additional, Mcfaline-Figueroa, Jose, additional, Nayak, Lakshmi, additional, Lee, Eudocia, additional, Batchelor, Tracy, additional, Chiocca, E Antonio, additional, Meredith, David, additional, Santagata, Sandro, additional, Reardon, David, additional, Beroukhim, Rameen, additional, Bi, Wenya Linda, additional, Ligon, Keith, additional, and Wen, Patrick, additional

Published
2020
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42. Contemporary Prognostic Signatures and Refined Risk Stratification of Gliomas: An Analysis of 4,400 Tumors.

Author

Ghosh HS, Patel RV, Woodward E, Greenwald NF, Bhave VM, Maury EA, Cello G, Hoffman SE, Li Y, Gupta H, Youssef G, Spurr LF, Vogelzang J, Touat M, Dubois F, Cherniack AD, Guo X, Tavakol S, Cioffi G, Lindeman NI, Ligon AH, Chiocca EA, Reardon DA, Wen PY, Meredith D, Santagata S, Barnholtz-Sloan JS, Ligon KL, Beroukhim R, and Bi WL

Abstract

Background: With the significant shift in the classification, risk stratification, and standards of care for gliomas, we sought to understand how the overall survival of patients with these tumors is impacted by molecular features, clinical metrics, and treatment received., Methods: We assembled a cohort of patients with a histopathologically diagnosed glioma from The Cancer Genome Atlas, Project Genomics Evidence Neoplasia Information Exchange, and Dana-Farber Cancer Institute/Brigham and Women's Hospital. This incorporated retrospective clinical, histological, and molecular data alongside prospective assessment of patient survival., Results: 4,400 gliomas were identified: 2,195 glioblastoma, 1,198 IDH1/2-mutant astrocytoma, 531 oligodendroglioma, 271 other IDH1/2-wildtype glioma, and 205 pediatric-type glioma. Molecular classification updated 27.2% of gliomas from their original histopathologic diagnosis. Examining the distribution of molecular alterations across glioma subtypes revealed mutually exclusive alterations within tumorigenic pathways. Non-TCGA patients had significantly improved overall survival compared to TCGA patients, with 26.7%, 55.6%, and 127.8% longer survival for glioblastoma, IDH1/2-mutant astrocytoma, and oligodendroglioma respectively (all p<0.01). Several prognostic features were characterized, including NF1 alteration and 21q loss in glioblastoma, and EGFR amplification and 22q loss in IDH1/2-mutant astrocytoma. Leveraging the size of this cohort, nomograms were generated to assess the probability of overall survival based on patient age, the molecular features of a tumor, and the treatment received., Conclusions: By applying modern molecular criteria, we characterize the genomic diversity across glioma subtypes, identify clinically applicable prognostic features, and provide a contemporary update on patient survival to serve as a reference for ongoing investigations., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Society for Neuro-Oncology.)

Published
2024
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43. A comparative analysis of IDH-mutant glioma in pediatric, young adult, and older adult patients.

Author

Lim-Fat MJ, Cotter JA, Touat M, Vogelzang J, Sousa C, Pisano W, Geduldig J, Bhave V, Driver J, Kao PC, McGovern A, Ma C, Margol AS, Cole K, Smith A, Goldman S, Kaneva K, Truong AL, Nazemi KJ, Wood MD, Wright KD, London WB, Warren KE, Wen PY, Bi WL, Alexandrescu S, Reardon DA, Ligon KL, and Yeo KK

Abstract

Background: The frequency and significance of IDH mutations in glioma across age groups is incompletely understood. We performed a multi-center retrospective age-stratified comparison of patients with IDH-mutant gliomas to identify age-specific differences in clinico-genomic features, treatments, and outcomes., Methods: Clinical, histologic, and sequencing data from patients with IDH-mutant, grade 2-4 gliomas, were collected from collaborating institutions between 2013-2019. Patients were categorized as pediatric (<19y), YA (19-39y) or older adult (≥40y). Clinical presentation, treatment, histologic, and molecular features were compared across age categories using Fisher's exact test or analysis-of-variance. Cox proportional-hazards regression was used to determine association of age and other covariates with overall (OS) and progression-free survival (PFS)., Results: We identified a cohort of 379 patients (204 YA) with IDH-mutant glioma with clinical data. There were 155 (41%) oligodendrogliomas and 224 (59%) astrocytomas. YA showed significantly shorter PFS and shorter median time-to-malignant transformation (MT) compared to pediatric and adult groups, but no significant OS difference. Adjusting for pathology type, extent of resection, and upfront therapy in multivariable analysis, the YA group was independently prognostic of shorter PFS than pediatric and adult groups. Among astrocytomas, CDK4/6 copy number amplifications were associated with both shorter PFS and shorter OS. Among oligodendrogliomas, PIK3CA and CDKN2A/2B alterations were associated with shorter OS., Conclusions: IDH-mutant glioma YA patients had significantly shorter PFS and time to MT but did not differ in OS compared to pediatric and adult groups. Treatment approach varied significantly by patient age and warrant further study as addressable age-associated outcome drivers., (© The Author(s) 2024. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.)

Published
2024
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44. Translation of non-canonical open reading frames as a cancer cell survival mechanism in childhood medulloblastoma.

Author

Hofman DA, Ruiz-Orera J, Yannuzzi I, Murugesan R, Brown A, Clauser KR, Condurat AL, van Dinter JT, Engels SAG, Goodale A, van der Lugt J, Abid T, Wang L, Zhou KN, Vogelzang J, Ligon KL, Phoenix TN, Roth JA, Root DE, Hubner N, Golub TR, Bandopadhayay P, van Heesch S, and Prensner JR

Abstract

A hallmark of high-risk childhood medulloblastoma is the dysregulation of RNA translation. Currently, it is unknown whether medulloblastoma dysregulates the translation of putatively oncogenic non-canonical open reading frames. To address this question, we performed ribosome profiling of 32 medulloblastoma tissues and cell lines and observed widespread non-canonical ORF translation. We then developed a step-wise approach to employ multiple CRISPR-Cas9 screens to elucidate functional non-canonical ORFs implicated in medulloblastoma cell survival. We determined that multiple lncRNA-ORFs and upstream open reading frames (uORFs) exhibited selective functionality independent of the main coding sequence. One of these, ASNSD1-uORF or ASDURF, was upregulated, associated with the MYC family oncogenes, and was required for medulloblastoma cell survival through engagement with the prefoldin-like chaperone complex. Our findings underscore the fundamental importance of non-canonical ORF translation in medulloblastoma and provide a rationale to include these ORFs in future cancer genomics studies seeking to define new cancer targets., Competing Interests: Declaration of interests K.L.L. reports the following interests: equity in Travera; research funds from Bristol Myers Squibb, SEngine Precision Medicine, Multiple Myeloma Research Foundation and Eli Lilly and Company; and being a consultant or on the scientific advisory board for Bristol Myers Squibb, Travera, and IntegraGen. P.B. receives grant funding from Novartis Institute of Biomedical Research, and has received grant funding from Deerfield Therapeutics, both for unrelated projects. P.B. has also served on a paid advisory board for QED Therapeutics, unrelated to this work. D.E.R. receives research funding from members of the Functional Genomics Consortium (Abbvie, BMS, Jannsen, Merck, Vir), and is a director of Addgene, Inc.

Published
2023
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45. Glioma genetic profiles associated with electrophysiologic hyperexcitability.

Author

Tobochnik S, Dorotan MKC, Ghosh HS, Lapinskas E, Vogelzang J, Reardon DA, Ligon KL, Bi WL, Smirnakis SM, and Lee JW

Abstract

Distinct genetic alterations determine glioma aggressiveness, however the diversity of somatic mutations contributing to peritumoral hyperexcitability and seizures is uncertain. In a large cohort of patients with sequenced gliomas (n=1716), we used discriminant analysis models to identify somatic mutation variants associated with electrographic hyperexcitability in a subset with continuous EEG recording (n=206). Overall tumor mutational burdens were similar between patients with and without hyperexcitability. A cross-validated model trained exclusively on somatic mutations classified the presence or absence of hyperexcitability with an overall accuracy of 70.9%, and improved estimates of hyperexcitability and anti-seizure medication failure in multivariate analysis incorporating traditional demographic factors and tumor molecular classifications. Somatic mutation variants of interest were also over-represented in patients with hyperexcitability compared to internal and external reference cohorts. These findings implicate diverse mutations in cancer genes associated with the development of hyperexcitability and response to treatment.

Published
2023
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