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10 results on '"Ma, Yussanne"'

1. Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma

Author

Merk, Daniel J., Ohli, Jasmin, Merk, Natalie D., Thatikonda, Venu, Morrissy, Sorana, Schoof, Melanie, Schmid, Susanne N., Harrison, Luke, Filser, Severin, Ahlfeld, Julia, Erkek, Serap, Raithatha, Kaamini, Andreska, Thomas, Weisshaar, Marc, Launspach, Michael, Neumann, Julia E., Shakarami, Mehdi, Plenker, Dennis, Marra, Marco A., Li, Yisu, Mungall, Andrew J., Moore, Richard A., Ma, Yussanne, Jones, Steven J. M., Lutz, Beat, Ertl-Wagner, Birgit, Rossi, Andrea, Wagener, Rabea, Siebert, Reiner, Jung, Andreas, Eberhart, Charles G., Lach, Boleslaw, Sendtner, Michael, Pfister, Stefan M., Taylor, Michael D., Chavez, Lukas, Kool, Marcel, Schueller, Ulrich, Merk, Daniel J., Ohli, Jasmin, Merk, Natalie D., Thatikonda, Venu, Morrissy, Sorana, Schoof, Melanie, Schmid, Susanne N., Harrison, Luke, Filser, Severin, Ahlfeld, Julia, Erkek, Serap, Raithatha, Kaamini, Andreska, Thomas, Weisshaar, Marc, Launspach, Michael, Neumann, Julia E., Shakarami, Mehdi, Plenker, Dennis, Marra, Marco A., Li, Yisu, Mungall, Andrew J., Moore, Richard A., Ma, Yussanne, Jones, Steven J. M., Lutz, Beat, Ertl-Wagner, Birgit, Rossi, Andrea, Wagener, Rabea, Siebert, Reiner, Jung, Andreas, Eberhart, Charles G., Lach, Boleslaw, Sendtner, Michael, Pfister, Stefan M., Taylor, Michael D., Chavez, Lukas, Kool, Marcel, and Schueller, Ulrich

Abstract

Recurrent mutations in chromatin modifiers are specifically prevalent in adolescent or adult patients with Sonic hedgehog-associated medulloblastoma (SHH MB). Here, we report that mutations in the acetyltransferase CREBBP have opposing effects during the development of the cerebellum, the primary site of origin of SHH MB. Our data reveal that loss of Crebbp in cerebellar granule neuron progenitors (GNPs) during embryonic development of mice compromises GNP development, in part by downregulation of brain-derived neurotrophic factor (Bdnf). Interestingly, concomitant cerebellar hypoplasia was also observed in patients with Rubinstein-Taybi syndrome, a congenital disorder caused by germline mutations of CREBBP. By contrast, loss of Crebbp in GNPs during postnatal development synergizes with oncogenic activation of SHH signaling to drive MB growth, thereby explaining the enrichment of somatic CREBBP mutations in SHH MB of adult patients. Together, our data provide insights into time-sensitive consequences of CREBBP mutations and corresponding associations with human diseases.

Published
2018

2. Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma

Author

Fishbein, Lauren, Leshchiner, Ignaty, Walter, Vonn, Danilova, Ludmila, Robertson, A. Gordon, Johnson, Amy R., Lichtenberg, Tara M., Murray, Bradley A., Ghayee, Hans K., Else, Tobias, Ling, Shiyun, Jefferys, Stuart R., de Cubas, Aguirre A., Wenz, Brandon, Korpershoek, Esther, Amelio, Antonio L., Makowski, Liza, Rathmell, W. Kimryn, Gimenez-Roqueplo, Anne Paule, Giordano, Thomas J., Asa, Sylvia L., Tischler, Arthur S., Akbani, Rehan, Ally, Adrian, Amar, Laurence, Arachchi, Harindra, Auchus, Richard J., Auman, J. Todd, Baertsch, Robert, Balasundaram, Miruna, Balu, Saianand, Bartsch, Detlef K., Baudin, Eric, Bauer, Thomas, Beaver, Allison, Benz, Christopher, Beroukhim, Rameen, Beuschlein, Felix, Bodenheimer, Tom, Boice, Lori, Bowen, Jay, Bowlby, Reanne, Brooks, Denise, Carlsen, Rebecca, Carter, Suzie, Cassol, Clarissa A., Cherniack, Andrew D., Chin, Lynda, Cho, Juok, Chuah, Eric, Chudamani, Sudha, Cope, Leslie, Crain, Daniel, Curley, Erin, de Krijger, Ronald R., Demchok, John A., Deutschbein, Timo, Dhalla, Noreen, Dimmock, David, Dinjens, Winand N M, Eng, Charis, Eschbacher, Jennifer, Fassnacht, Martin, Felau, Ina, Feldman, Michael, Ferguson, Martin L., Fiddes, Ian, Frazer, Scott, Gabriel, Stacey B., Gardner, Johanna, Gastier-Foster, Julie M., Gehlenborg, Nils, Gerken, Mark, Getz, Gad, Geurts, Jennifer, Goldman, Mary, Graim, Kiley, Gupta, Manaswi, Haan, David, Hahner, Stefanie, Hantel, Constanze, Haussler, David, Hayes, D. Neil, Heiman, David I., Hoadley, Katherine A., Holt, Robert A., Hoyle, Alan P., Huang, Mei, Hunt, Bryan, Hutter, Carolyn M., Jones, Steven J M, Jones, Corbin D., Kasaian, Katayoon, Kebebew, Electron, Kim, Jaegil, Kimes, Patrick, Knijnenburg, Theo, Lander, Eric, Lawrence, Michael S., Lechan, Ronald, Lee, Darlene, Leraas, Kristen M., Lerario, Antonio, Lin, Pei, Liu, Jia, LiVolsi, Virginia A., Lolla, Laxmi, Lotan, Yair, Lu, Yiling, Ma, Yussanne, Maison, Nicole, Mallery, David, Mannelli, Massimo, Marquard, Jessica, Marra, Marco A., Matthew, Thomas, Mayo, Michael, Méatchi, Tchao, Meng, Shaowu, Merino, Maria J., Mete, Ozgur, Meyerson, Matthew, Mieczkowski, Piotr A., Mills, Gordon B., Moore, Richard A., Morozova, Olena, Morris, Scott, Mose, Lisle E., Mungall, Andrew J., Naresh, Rashi, Nathanson, Katherine L., Newton, Yulia, Ng, Sam, Ni, Ying, Noble, Michael S., Nwariaku, Fiemu, Pacak, Karel, Parker, Joel S., Paul, Evan, Penny, Robert, Perou, Charles M., Perou, Amy H., Pihl, Todd, Powers, James, Rabaglia, Jennifer, Radenbaugh, Amie, Ramirez, Nilsa C., Rao, Arjun, Riester, Anna, Roach, Jeffrey, Sadeghi, Sara, Saksena, Gordon, Salama, Sofie, Saller, Charles, Sandusky, George, Sbiera, Silviu, Schein, Jacqueline E., Schumacher, Steven E., Shelton, Candace, Shelton, Troy, Sheth, Margi, Shi, Yan, Shih, Juliann, Shmulevich, Ilya, Simons, Janae V., Sipahimalani, Payal, Skelly, Tara, Sofia, Heidi J., Sokolov, Artem, Soloway, Matthew G., Sougnez, Carrie, Stuart, Josh, Sun, Charlie, Swatloski, Teresa, Tam, Angela, Tan, Donghui, Tarnuzzer, Roy, Tarvin, Katherine, Thiessen, Nina, Thorne, Leigh B., Timmers, Henri J., Tse, Kane, Uzunangelov, Vlado, van Berkel, Anouk, Veluvolu, Umadevi, Vicha, Ales, Voet, Doug, Waldmann, Jens, Wan, Yunhu, Wang, Zhining, Wang, Tracy S., Weaver, Joellen, Weinstein, John N., Weismann, Dirk, Wilkerson, Matthew D., Wise, Lisa, Wong, Tina, Wong, Christopher, Wu, Ye, Yang, Liming, Zelinka, Tomas, Zenklusen, Jean C., Zhang, Jiashan (Julia), Zhang, Wei, Zhu, Jingchun, Zinzindohoué, Franck, Zmuda, Erik, Fishbein, Lauren, Leshchiner, Ignaty, Walter, Vonn, Danilova, Ludmila, Robertson, A. Gordon, Johnson, Amy R., Lichtenberg, Tara M., Murray, Bradley A., Ghayee, Hans K., Else, Tobias, Ling, Shiyun, Jefferys, Stuart R., de Cubas, Aguirre A., Wenz, Brandon, Korpershoek, Esther, Amelio, Antonio L., Makowski, Liza, Rathmell, W. Kimryn, Gimenez-Roqueplo, Anne Paule, Giordano, Thomas J., Asa, Sylvia L., Tischler, Arthur S., Akbani, Rehan, Ally, Adrian, Amar, Laurence, Arachchi, Harindra, Auchus, Richard J., Auman, J. Todd, Baertsch, Robert, Balasundaram, Miruna, Balu, Saianand, Bartsch, Detlef K., Baudin, Eric, Bauer, Thomas, Beaver, Allison, Benz, Christopher, Beroukhim, Rameen, Beuschlein, Felix, Bodenheimer, Tom, Boice, Lori, Bowen, Jay, Bowlby, Reanne, Brooks, Denise, Carlsen, Rebecca, Carter, Suzie, Cassol, Clarissa A., Cherniack, Andrew D., Chin, Lynda, Cho, Juok, Chuah, Eric, Chudamani, Sudha, Cope, Leslie, Crain, Daniel, Curley, Erin, de Krijger, Ronald R., Demchok, John A., Deutschbein, Timo, Dhalla, Noreen, Dimmock, David, Dinjens, Winand N M, Eng, Charis, Eschbacher, Jennifer, Fassnacht, Martin, Felau, Ina, Feldman, Michael, Ferguson, Martin L., Fiddes, Ian, Frazer, Scott, Gabriel, Stacey B., Gardner, Johanna, Gastier-Foster, Julie M., Gehlenborg, Nils, Gerken, Mark, Getz, Gad, Geurts, Jennifer, Goldman, Mary, Graim, Kiley, Gupta, Manaswi, Haan, David, Hahner, Stefanie, Hantel, Constanze, Haussler, David, Hayes, D. Neil, Heiman, David I., Hoadley, Katherine A., Holt, Robert A., Hoyle, Alan P., Huang, Mei, Hunt, Bryan, Hutter, Carolyn M., Jones, Steven J M, Jones, Corbin D., Kasaian, Katayoon, Kebebew, Electron, Kim, Jaegil, Kimes, Patrick, Knijnenburg, Theo, Lander, Eric, Lawrence, Michael S., Lechan, Ronald, Lee, Darlene, Leraas, Kristen M., Lerario, Antonio, Lin, Pei, Liu, Jia, LiVolsi, Virginia A., Lolla, Laxmi, Lotan, Yair, Lu, Yiling, Ma, Yussanne, Maison, Nicole, Mallery, David, Mannelli, Massimo, Marquard, Jessica, Marra, Marco A., Matthew, Thomas, Mayo, Michael, Méatchi, Tchao, Meng, Shaowu, Merino, Maria J., Mete, Ozgur, Meyerson, Matthew, Mieczkowski, Piotr A., Mills, Gordon B., Moore, Richard A., Morozova, Olena, Morris, Scott, Mose, Lisle E., Mungall, Andrew J., Naresh, Rashi, Nathanson, Katherine L., Newton, Yulia, Ng, Sam, Ni, Ying, Noble, Michael S., Nwariaku, Fiemu, Pacak, Karel, Parker, Joel S., Paul, Evan, Penny, Robert, Perou, Charles M., Perou, Amy H., Pihl, Todd, Powers, James, Rabaglia, Jennifer, Radenbaugh, Amie, Ramirez, Nilsa C., Rao, Arjun, Riester, Anna, Roach, Jeffrey, Sadeghi, Sara, Saksena, Gordon, Salama, Sofie, Saller, Charles, Sandusky, George, Sbiera, Silviu, Schein, Jacqueline E., Schumacher, Steven E., Shelton, Candace, Shelton, Troy, Sheth, Margi, Shi, Yan, Shih, Juliann, Shmulevich, Ilya, Simons, Janae V., Sipahimalani, Payal, Skelly, Tara, Sofia, Heidi J., Sokolov, Artem, Soloway, Matthew G., Sougnez, Carrie, Stuart, Josh, Sun, Charlie, Swatloski, Teresa, Tam, Angela, Tan, Donghui, Tarnuzzer, Roy, Tarvin, Katherine, Thiessen, Nina, Thorne, Leigh B., Timmers, Henri J., Tse, Kane, Uzunangelov, Vlado, van Berkel, Anouk, Veluvolu, Umadevi, Vicha, Ales, Voet, Doug, Waldmann, Jens, Wan, Yunhu, Wang, Zhining, Wang, Tracy S., Weaver, Joellen, Weinstein, John N., Weismann, Dirk, Wilkerson, Matthew D., Wise, Lisa, Wong, Tina, Wong, Christopher, Wu, Ye, Yang, Liming, Zelinka, Tomas, Zenklusen, Jean C., Zhang, Jiashan (Julia), Zhang, Wei, Zhu, Jingchun, Zinzindohoué, Franck, and Zmuda, Erik

Published
2017

3. Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma

Author

Pathologie Pathologen staf, Onderzoeksgroep 6, Fishbein, Lauren, Leshchiner, Ignaty, Walter, Vonn, Danilova, Ludmila, Robertson, A. Gordon, Johnson, Amy R., Lichtenberg, Tara M., Murray, Bradley A., Ghayee, Hans K., Else, Tobias, Ling, Shiyun, Jefferys, Stuart R., de Cubas, Aguirre A., Wenz, Brandon, Korpershoek, Esther, Amelio, Antonio L., Makowski, Liza, Rathmell, W. Kimryn, Gimenez-Roqueplo, Anne Paule, Giordano, Thomas J., Asa, Sylvia L., Tischler, Arthur S., Akbani, Rehan, Ally, Adrian, Amar, Laurence, Arachchi, Harindra, Auchus, Richard J., Auman, J. Todd, Baertsch, Robert, Balasundaram, Miruna, Balu, Saianand, Bartsch, Detlef K., Baudin, Eric, Bauer, Thomas, Beaver, Allison, Benz, Christopher, Beroukhim, Rameen, Beuschlein, Felix, Bodenheimer, Tom, Boice, Lori, Bowen, Jay, Bowlby, Reanne, Brooks, Denise, Carlsen, Rebecca, Carter, Suzie, Cassol, Clarissa A., Cherniack, Andrew D., Chin, Lynda, Cho, Juok, Chuah, Eric, Chudamani, Sudha, Cope, Leslie, Crain, Daniel, Curley, Erin, de Krijger, Ronald R., Demchok, John A., Deutschbein, Timo, Dhalla, Noreen, Dimmock, David, Dinjens, Winand N M, Eng, Charis, Eschbacher, Jennifer, Fassnacht, Martin, Felau, Ina, Feldman, Michael, Ferguson, Martin L., Fiddes, Ian, Frazer, Scott, Gabriel, Stacey B., Gardner, Johanna, Gastier-Foster, Julie M., Gehlenborg, Nils, Gerken, Mark, Getz, Gad, Geurts, Jennifer, Goldman, Mary, Graim, Kiley, Gupta, Manaswi, Haan, David, Hahner, Stefanie, Hantel, Constanze, Haussler, David, Hayes, D. Neil, Heiman, David I., Hoadley, Katherine A., Holt, Robert A., Hoyle, Alan P., Huang, Mei, Hunt, Bryan, Hutter, Carolyn M., Jones, Steven J M, Jones, Corbin D., Kasaian, Katayoon, Kebebew, Electron, Kim, Jaegil, Kimes, Patrick, Knijnenburg, Theo, Lander, Eric, Lawrence, Michael S., Lechan, Ronald, Lee, Darlene, Leraas, Kristen M., Lerario, Antonio, Lin, Pei, Liu, Jia, LiVolsi, Virginia A., Lolla, Laxmi, Lotan, Yair, Lu, Yiling, Ma, Yussanne, Maison, Nicole, Mallery, David, Mannelli, Massimo, Marquard, Jessica, Marra, Marco A., Matthew, Thomas, Mayo, Michael, Méatchi, Tchao, Meng, Shaowu, Merino, Maria J., Mete, Ozgur, Meyerson, Matthew, Mieczkowski, Piotr A., Mills, Gordon B., Moore, Richard A., Morozova, Olena, Morris, Scott, Mose, Lisle E., Mungall, Andrew J., Naresh, Rashi, Nathanson, Katherine L., Newton, Yulia, Ng, Sam, Ni, Ying, Noble, Michael S., Nwariaku, Fiemu, Pacak, Karel, Parker, Joel S., Paul, Evan, Penny, Robert, Perou, Charles M., Perou, Amy H., Pihl, Todd, Powers, James, Rabaglia, Jennifer, Radenbaugh, Amie, Ramirez, Nilsa C., Rao, Arjun, Riester, Anna, Roach, Jeffrey, Sadeghi, Sara, Saksena, Gordon, Salama, Sofie, Saller, Charles, Sandusky, George, Sbiera, Silviu, Schein, Jacqueline E., Schumacher, Steven E., Shelton, Candace, Shelton, Troy, Sheth, Margi, Shi, Yan, Shih, Juliann, Shmulevich, Ilya, Simons, Janae V., Sipahimalani, Payal, Skelly, Tara, Sofia, Heidi J., Sokolov, Artem, Soloway, Matthew G., Sougnez, Carrie, Stuart, Josh, Sun, Charlie, Swatloski, Teresa, Tam, Angela, Tan, Donghui, Tarnuzzer, Roy, Tarvin, Katherine, Thiessen, Nina, Thorne, Leigh B., Timmers, Henri J., Tse, Kane, Uzunangelov, Vlado, van Berkel, Anouk, Veluvolu, Umadevi, Vicha, Ales, Voet, Doug, Waldmann, Jens, Wan, Yunhu, Wang, Zhining, Wang, Tracy S., Weaver, Joellen, Weinstein, John N., Weismann, Dirk, Wilkerson, Matthew D., Wise, Lisa, Wong, Tina, Wong, Christopher, Wu, Ye, Yang, Liming, Zelinka, Tomas, Zenklusen, Jean C., Zhang, Jiashan (Julia), Zhang, Wei, Zhu, Jingchun, Zinzindohoué, Franck, Zmuda, Erik, Pathologie Pathologen staf, Onderzoeksgroep 6, Fishbein, Lauren, Leshchiner, Ignaty, Walter, Vonn, Danilova, Ludmila, Robertson, A. Gordon, Johnson, Amy R., Lichtenberg, Tara M., Murray, Bradley A., Ghayee, Hans K., Else, Tobias, Ling, Shiyun, Jefferys, Stuart R., de Cubas, Aguirre A., Wenz, Brandon, Korpershoek, Esther, Amelio, Antonio L., Makowski, Liza, Rathmell, W. Kimryn, Gimenez-Roqueplo, Anne Paule, Giordano, Thomas J., Asa, Sylvia L., Tischler, Arthur S., Akbani, Rehan, Ally, Adrian, Amar, Laurence, Arachchi, Harindra, Auchus, Richard J., Auman, J. Todd, Baertsch, Robert, Balasundaram, Miruna, Balu, Saianand, Bartsch, Detlef K., Baudin, Eric, Bauer, Thomas, Beaver, Allison, Benz, Christopher, Beroukhim, Rameen, Beuschlein, Felix, Bodenheimer, Tom, Boice, Lori, Bowen, Jay, Bowlby, Reanne, Brooks, Denise, Carlsen, Rebecca, Carter, Suzie, Cassol, Clarissa A., Cherniack, Andrew D., Chin, Lynda, Cho, Juok, Chuah, Eric, Chudamani, Sudha, Cope, Leslie, Crain, Daniel, Curley, Erin, de Krijger, Ronald R., Demchok, John A., Deutschbein, Timo, Dhalla, Noreen, Dimmock, David, Dinjens, Winand N M, Eng, Charis, Eschbacher, Jennifer, Fassnacht, Martin, Felau, Ina, Feldman, Michael, Ferguson, Martin L., Fiddes, Ian, Frazer, Scott, Gabriel, Stacey B., Gardner, Johanna, Gastier-Foster, Julie M., Gehlenborg, Nils, Gerken, Mark, Getz, Gad, Geurts, Jennifer, Goldman, Mary, Graim, Kiley, Gupta, Manaswi, Haan, David, Hahner, Stefanie, Hantel, Constanze, Haussler, David, Hayes, D. Neil, Heiman, David I., Hoadley, Katherine A., Holt, Robert A., Hoyle, Alan P., Huang, Mei, Hunt, Bryan, Hutter, Carolyn M., Jones, Steven J M, Jones, Corbin D., Kasaian, Katayoon, Kebebew, Electron, Kim, Jaegil, Kimes, Patrick, Knijnenburg, Theo, Lander, Eric, Lawrence, Michael S., Lechan, Ronald, Lee, Darlene, Leraas, Kristen M., Lerario, Antonio, Lin, Pei, Liu, Jia, LiVolsi, Virginia A., Lolla, Laxmi, Lotan, Yair, Lu, Yiling, Ma, Yussanne, Maison, Nicole, Mallery, David, Mannelli, Massimo, Marquard, Jessica, Marra, Marco A., Matthew, Thomas, Mayo, Michael, Méatchi, Tchao, Meng, Shaowu, Merino, Maria J., Mete, Ozgur, Meyerson, Matthew, Mieczkowski, Piotr A., Mills, Gordon B., Moore, Richard A., Morozova, Olena, Morris, Scott, Mose, Lisle E., Mungall, Andrew J., Naresh, Rashi, Nathanson, Katherine L., Newton, Yulia, Ng, Sam, Ni, Ying, Noble, Michael S., Nwariaku, Fiemu, Pacak, Karel, Parker, Joel S., Paul, Evan, Penny, Robert, Perou, Charles M., Perou, Amy H., Pihl, Todd, Powers, James, Rabaglia, Jennifer, Radenbaugh, Amie, Ramirez, Nilsa C., Rao, Arjun, Riester, Anna, Roach, Jeffrey, Sadeghi, Sara, Saksena, Gordon, Salama, Sofie, Saller, Charles, Sandusky, George, Sbiera, Silviu, Schein, Jacqueline E., Schumacher, Steven E., Shelton, Candace, Shelton, Troy, Sheth, Margi, Shi, Yan, Shih, Juliann, Shmulevich, Ilya, Simons, Janae V., Sipahimalani, Payal, Skelly, Tara, Sofia, Heidi J., Sokolov, Artem, Soloway, Matthew G., Sougnez, Carrie, Stuart, Josh, Sun, Charlie, Swatloski, Teresa, Tam, Angela, Tan, Donghui, Tarnuzzer, Roy, Tarvin, Katherine, Thiessen, Nina, Thorne, Leigh B., Timmers, Henri J., Tse, Kane, Uzunangelov, Vlado, van Berkel, Anouk, Veluvolu, Umadevi, Vicha, Ales, Voet, Doug, Waldmann, Jens, Wan, Yunhu, Wang, Zhining, Wang, Tracy S., Weaver, Joellen, Weinstein, John N., Weismann, Dirk, Wilkerson, Matthew D., Wise, Lisa, Wong, Tina, Wong, Christopher, Wu, Ye, Yang, Liming, Zelinka, Tomas, Zenklusen, Jean C., Zhang, Jiashan (Julia), Zhang, Wei, Zhu, Jingchun, Zinzindohoué, Franck, and Zmuda, Erik

Published
2017

4. Identification and Analyses of Extra-Cranial and Cranial Rhabdoid Tumor Molecular Subgroups Reveal Tumors with Cytotoxic T Cell Infiltration.

Author

Chun HE, Johann PD, Milne K, Zapatka M, Buellesbach A, Ishaque N, Iskar M, Erkek S, Wei L, Tessier-Cloutier B, Lever J, Titmuss E, Topham JT, Bowlby R, Chuah E, Mungall KL, Ma Y, Mungall AJ, Moore RA, Taylor MD, Gerhard DS, Jones SJM, Korshunov A, Gessler M, Kerl K, Hasselblatt M, Frühwald MC, Perlman EJ, Nelson BH, Pfister SM, Marra MA, and Kool M

Subjects
Child, DNA Methylation genetics, DNA Methylation physiology, Female, Humans, Lymphocytes, Tumor-Infiltrating metabolism, Lymphocytes, Tumor-Infiltrating pathology, Male, Mutation genetics, SMARCB1 Protein genetics, SMARCB1 Protein metabolism, Skull Base Neoplasms metabolism, Skull Base Neoplasms pathology, T-Lymphocytes metabolism, T-Lymphocytes pathology, Teratoma metabolism, Teratoma pathology, Rhabdoid Tumor metabolism, Rhabdoid Tumor pathology, T-Lymphocytes, Cytotoxic metabolism, T-Lymphocytes, Cytotoxic pathology
Abstract

Extra-cranial malignant rhabdoid tumors (MRTs) and cranial atypical teratoid RTs (ATRTs) are heterogeneous pediatric cancers driven primarily by SMARCB1 loss. To understand the genome-wide molecular relationships between MRTs and ATRTs, we analyze multi-omics data from 140 MRTs and 161 ATRTs. We detect similarities between the MYC subgroup of ATRTs (ATRT-MYC) and extra-cranial MRTs, including global DNA hypomethylation and overexpression of HOX genes and genes involved in mesenchymal development, distinguishing them from other ATRT subgroups that express neural-like features. We identify five DNA methylation subgroups associated with anatomical sites and SMARCB1 mutation patterns. Groups 1, 3, and 4 exhibit cytotoxic T cell infiltration and expression of immune checkpoint regulators, consistent with a potential role for immunotherapy in rhabdoid tumor patients., (Copyright © 2019 The Author(s). Published by Elsevier Inc. All rights reserved.)

Published
2019
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5. Clonal Decomposition and DNA Replication States Defined by Scaled Single-Cell Genome Sequencing.

Author

Laks E, McPherson A, Zahn H, Lai D, Steif A, Brimhall J, Biele J, Wang B, Masud T, Ting J, Grewal D, Nielsen C, Leung S, Bojilova V, Smith M, Golovko O, Poon S, Eirew P, Kabeer F, Ruiz de Algara T, Lee SR, Taghiyar MJ, Huebner C, Ngo J, Chan T, Vatrt-Watts S, Walters P, Abrar N, Chan S, Wiens M, Martin L, Scott RW, Underhill TM, Chavez E, Steidl C, Da Costa D, Ma Y, Coope RJN, Corbett R, Pleasance S, Moore R, Mungall AJ, Mar C, Cafferty F, Gelmon K, Chia S, Marra MA, Hansen C, Shah SP, and Aparicio S

Subjects
Aneuploidy, Animals, Cell Cycle genetics, Cell Line, Tumor, Cell Shape, Cell Survival, Chromosomes, Human genetics, Clone Cells, DNA Transposable Elements genetics, Diploidy, Female, Genotype, Humans, Male, Mice, Mutation genetics, Phylogeny, Polymorphism, Single Nucleotide genetics, DNA Replication genetics, Genome, Human, High-Throughput Nucleotide Sequencing, Single-Cell Analysis
Abstract

Accurate measurement of clonal genotypes, mutational processes, and replication states from individual tumor-cell genomes will facilitate improved understanding of tumor evolution. We have developed DLP+, a scalable single-cell whole-genome sequencing platform implemented using commodity instruments, image-based object recognition, and open source computational methods. Using DLP+, we have generated a resource of 51,926 single-cell genomes and matched cell images from diverse cell types including cell lines, xenografts, and diagnostic samples with limited material. From this resource we have defined variation in mitotic mis-segregation rates across tissue types and genotypes. Analysis of matched genomic and image measurements revealed correlations between cellular morphology and genome ploidy states. Aggregation of cells sharing copy number profiles allowed for calculation of single-nucleotide resolution clonal genotypes and inference of clonal phylogenies and avoided the limitations of bulk deconvolution. Finally, joint analysis over the above features defined clone-specific chromosomal aneuploidy in polyclonal populations., (Copyright © 2019 The Authors. Published by Elsevier Inc. All rights reserved.)

Published
2019
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6. A Hematogenous Route for Medulloblastoma Leptomeningeal Metastases.

Author

Garzia L, Kijima N, Morrissy AS, De Antonellis P, Guerreiro-Stucklin A, Holgado BL, Wu X, Wang X, Parsons M, Zayne K, Manno A, Kuzan-Fischer C, Nor C, Donovan LK, Liu J, Qin L, Garancher A, Liu KW, Mansouri S, Luu B, Thompson YY, Ramaswamy V, Peacock J, Farooq H, Skowron P, Shih DJH, Li A, Ensan S, Robbins CS, Cybulsky M, Mitra S, Ma Y, Moore R, Mungall A, Cho YJ, Weiss WA, Chan JA, Hawkins CE, Massimino M, Jabado N, Zapotocky M, Sumerauer D, Bouffet E, Dirks P, Tabori U, Sorensen PHB, Brastianos PK, Aldape K, Jones SJM, Marra MA, Woodgett JR, Wechsler-Reya RJ, Fults DW, and Taylor MD

Published
2018
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7. Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.

Author

Merk DJ, Ohli J, Merk ND, Thatikonda V, Morrissy S, Schoof M, Schmid SN, Harrison L, Filser S, Ahlfeld J, Erkek S, Raithatha K, Andreska T, Weißhaar M, Launspach M, Neumann JE, Shakarami M, Plenker D, Marra MA, Li Y, Mungall AJ, Moore RA, Ma Y, Jones SJM, Lutz B, Ertl-Wagner B, Rossi A, Wagener R, Siebert R, Jung A, Eberhart CG, Lach B, Sendtner M, Pfister SM, Taylor MD, Chavez L, Kool M, and Schüller U

Subjects
Adult, Animals, CREB-Binding Protein genetics, Cerebellar Neoplasms genetics, Cerebellar Neoplasms metabolism, Cerebellar Neoplasms pathology, Female, Hedgehog Proteins genetics, Humans, Medulloblastoma genetics, Medulloblastoma metabolism, Mice, Mice, Knockout, Neurons, Phenotype, Rubinstein-Taybi Syndrome genetics, Rubinstein-Taybi Syndrome metabolism, Signal Transduction, Acetyltransferases metabolism, CREB-Binding Protein metabolism, CREB-Binding Protein physiology, Hedgehog Proteins metabolism, Medulloblastoma pathology, Mutation, Rubinstein-Taybi Syndrome pathology
Abstract

Recurrent mutations in chromatin modifiers are specifically prevalent in adolescent or adult patients with Sonic hedgehog-associated medulloblastoma (SHH MB). Here, we report that mutations in the acetyltransferase CREBBP have opposing effects during the development of the cerebellum, the primary site of origin of SHH MB. Our data reveal that loss of Crebbp in cerebellar granule neuron progenitors (GNPs) during embryonic development of mice compromises GNP development, in part by downregulation of brain-derived neurotrophic factor (Bdnf). Interestingly, concomitant cerebellar hypoplasia was also observed in patients with Rubinstein-Taybi syndrome, a congenital disorder caused by germline mutations of CREBBP. By contrast, loss of Crebbp in GNPs during postnatal development synergizes with oncogenic activation of SHH signaling to drive MB growth, thereby explaining the enrichment of somatic CREBBP mutations in SHH MB of adult patients. Together, our data provide insights into time-sensitive consequences of CREBBP mutations and corresponding associations with human diseases., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Published
2018
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8. Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways.

Author

Chun HE, Lim EL, Heravi-Moussavi A, Saberi S, Mungall KL, Bilenky M, Carles A, Tse K, Shlafman I, Zhu K, Qian JQ, Palmquist DL, He A, Long W, Goya R, Ng M, LeBlanc VG, Pleasance E, Thiessen N, Wong T, Chuah E, Zhao YJ, Schein JE, Gerhard DS, Taylor MD, Mungall AJ, Moore RA, Ma Y, Jones SJM, Perlman EJ, Hirst M, and Marra MA

Subjects
Cell Line, Tumor, Chromosomal Proteins, Non-Histone genetics, DNA Methylation genetics, DNA-Binding Proteins genetics, Gene Expression genetics, Histones genetics, Humans, MicroRNAs genetics, SMARCB1 Protein, Transcription Factors genetics, Transcriptome genetics, Gene Expression Regulation, Developmental genetics, Rhabdoid Tumor genetics
Abstract

Malignant rhabdoid tumors (MRTs) are rare lethal tumors of childhood that most commonly occur in the kidney and brain. MRTs are driven by SMARCB1 loss, but the molecular consequences of SMARCB1 loss in extra-cranial tumors have not been comprehensively described and genomic resources for analyses of extra-cranial MRT are limited. To provide such data, we used whole-genome sequencing, whole-genome bisulfite sequencing, whole transcriptome (RNA-seq) and microRNA sequencing (miRNA-seq), and histone modification profiling to characterize extra-cranial MRTs. Our analyses revealed gene expression and methylation subgroups and focused on dysregulated pathways, including those involved in neural crest development., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Published
2016
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9. Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors.

Author

Walz AL, Ooms A, Gadd S, Gerhard DS, Smith MA, Guidry Auvil JM, Meerzaman D, Chen QR, Hsu CH, Yan C, Nguyen C, Hu Y, Bowlby R, Brooks D, Ma Y, Mungall AJ, Moore RA, Schein J, Marra MA, Huff V, Dome JS, Chi YY, Mullighan CG, Ma J, Wheeler DA, Hampton OA, Jafari N, Ross N, Gastier-Foster JM, and Perlman EJ

Subjects
Gene Expression Regulation, Neoplastic, Humans, Loss of Heterozygosity genetics, MicroRNAs genetics, Mutation, Neoplasm Recurrence, Local genetics, Neoplasm Recurrence, Local pathology, Polymorphism, Single Nucleotide, Wilms Tumor pathology, Homeodomain Proteins genetics, Nerve Tissue Proteins genetics, RNA-Binding Proteins genetics, Ribonuclease III genetics, Wilms Tumor genetics
Abstract

We report the most common single-nucleotide substitution/deletion mutations in favorable histology Wilms tumors (FHWTs) to occur within SIX1/2 (7% of 534 tumors) and microRNA processing genes (miRNAPGs) DGCR8 and DROSHA (15% of 534 tumors). Comprehensive analysis of 77 FHWTs indicates that tumors with SIX1/2 and/or miRNAPG mutations show a pre-induction metanephric mesenchyme gene expression pattern and are significantly associated with both perilobar nephrogenic rests and 11p15 imprinting aberrations. Significantly decreased expression of mature Let-7a and the miR-200 family (responsible for mesenchymal-to-epithelial transition) in miRNAPG mutant tumors is associated with an undifferentiated blastemal histology. The combination of SIX and miRNAPG mutations in the same tumor is associated with evidence of RAS activation and a higher rate of relapse and death., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Published
2015
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10. Quiescent sox2(+) cells drive hierarchical growth and relapse in sonic hedgehog subgroup medulloblastoma.

Author

Vanner RJ, Remke M, Gallo M, Selvadurai HJ, Coutinho F, Lee L, Kushida M, Head R, Morrissy S, Zhu X, Aviv T, Voisin V, Clarke ID, Li Y, Mungall AJ, Moore RA, Ma Y, Jones SJ, Marra MA, Malkin D, Northcott PA, Kool M, Pfister SM, Bader G, Hochedlinger K, Korshunov A, Taylor MD, and Dirks PB

Subjects
Animals, Antigens, Nuclear metabolism, Antineoplastic Agents pharmacology, Biomarkers, Tumor genetics, Cell Lineage, Cerebellar Neoplasms drug therapy, Cerebellar Neoplasms genetics, Cerebellar Neoplasms pathology, DNA-Binding Proteins, Dose-Response Relationship, Drug, Doublecortin Domain Proteins, Drug Resistance, Neoplasm, Gene Expression Profiling, Gene Expression Regulation, Neoplastic, Hedgehog Proteins genetics, Medulloblastoma drug therapy, Medulloblastoma genetics, Mice, Mice, Transgenic, Microtubule-Associated Proteins metabolism, Molecular Sequence Data, Neoplasm Recurrence, Local, Nerve Tissue Proteins metabolism, Neurogenesis, Neuropeptides metabolism, Nuclear Proteins metabolism, Patched Receptors, Plicamycin pharmacology, Prognosis, Receptors, Cell Surface genetics, Receptors, Cell Surface metabolism, Receptors, G-Protein-Coupled metabolism, SOXB1 Transcription Factors genetics, Smoothened Receptor, Time Factors, Tumor Cells, Cultured, Biomarkers, Tumor metabolism, Cell Proliferation drug effects, Cerebellar Neoplasms metabolism, Hedgehog Proteins metabolism, Medulloblastoma metabolism, SOXB1 Transcription Factors metabolism
Abstract

Functional heterogeneity within tumors presents a significant therapeutic challenge. Here we show that quiescent, therapy-resistant Sox2(+) cells propagate sonic hedgehog subgroup medulloblastoma by a mechanism that mirrors a neurogenic program. Rare Sox2(+) cells produce rapidly cycling doublecortin(+) progenitors that, together with their postmitotic progeny expressing NeuN, comprise tumor bulk. Sox2(+) cells are enriched following anti-mitotic chemotherapy and Smoothened inhibition, creating a reservoir for tumor regrowth. Lineage traces from Sox2(+) cells increase following treatment, suggesting that this population is responsible for relapse. Targeting Sox2(+) cells with the antineoplastic mithramycin abrogated tumor growth. Addressing functional heterogeneity and eliminating Sox2(+) cells presents a promising therapeutic paradigm for treatment of sonic hedgehog subgroup medulloblastoma., (Copyright © 2014 Elsevier Inc. All rights reserved.)

Published
2014
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