Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma

We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC...

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Main Authors: Fishbein, Lauren, 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., Pacak, Karel, Nathanson, Katherine L., Wilkerson, Matthew D., 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, 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, Newton, Yulia, Ng, Sam, Ni, Ying, Noble, Michael S., Nwariaku, Fiemu, 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, Wise, Lisa, Wong, Tina, Wu, Ye, Yang, Liming, Zelinka, Tomas, Zenklusen, Jean C., Zhang, Jiashan (Julia), Zhang, Wei, Zhu, Jingchun, Zinzindohoué, Franck, Zmuda, Erik, Leshchiner, Ignaty, Lander, Eric Steven, Wong, Christopher, M. Eng. Massachusetts Institute of Technology
Other Authors: Broad Institute of MIT and Harvard
Format: Article
Published: Elsevier 2018
Online Access:http://hdl.handle.net/1721.1/116699
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author Fishbein, Lauren
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.
Pacak, Karel
Nathanson, Katherine L.
Wilkerson, Matthew D.
Akbani, Rehan
Ally, Adrian
Amar, Laurence
Amelio, Antonio L.
Arachchi, Harindra
Asa, Sylvia L.
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
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
Danilova, Ludmila
de Cubas, Aguirre A.
de Krijger, Ronald R.
Demchok, John A.
Deutschbein, Timo
Dhalla, Noreen
Dimmock, David
Dinjens, Winand N.M.
Else, Tobias
Eng, Charis
Eschbacher, Jennifer
Fassnacht, Martin
Felau, Ina
Feldman, Michael
Ferguson, Martin L.
Fiddes, Ian
Fishbein, Lauren
Frazer, Scott
Gabriel, Stacey B.
Gardner, Johanna
Gastier-Foster, Julie M.
Gehlenborg, Nils
Gerken, Mark
Getz, Gad
Geurts, Jennifer
Ghayee, Hans K.
Gimenez-Roqueplo, Anne-Paule
Giordano, Thomas J.
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.
Jefferys, Stuart R.
Johnson, Amy R.
Jones, Steven J.M.
Jones, Corbin D.
Kasaian, Katayoon
Kebebew, Electron
Kim, Jaegil
Kimes, Patrick
Knijnenburg, Theo
Korpershoek, Esther
Lander, Eric
Lawrence, Michael S.
Lechan, Ronald
Lee, Darlene
Leraas, Kristen M.
Lerario, Antonio
Lichtenberg, Tara M.
Lin, Pei
Ling, Shiyun
Liu, Jia
LiVolsi, Virginia A.
Lolla, Laxmi
Lotan, Yair
Lu, Yiling
Ma, Yussanne
Maison, Nicole
Makowski, Liza
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.
Murray, Bradley A.
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
Rathmell, W. Kimryn
Riester, Anna
Roach, Jeffrey
Robertson, A. Gordon
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.
Tischler, Arthur S.
Tse, Kane
Uzunangelov, Vlado
van Berkel, Anouk
Veluvolu, Umadevi
Vicha, Ales
Voet, Doug
Waldmann, Jens
Walter, Vonn
Wan, Yunhu
Wang, Zhining
Wang, Tracy S.
Weaver, Joellen
Weinstein, John N.
Weismann, Dirk
Wenz, Brandon
Wilkerson, Matthew D.
Wise, Lisa
Wong, Tina
Wu, Ye
Yang, Liming
Zelinka, Tomas
Zenklusen, Jean C.
Zhang, Jiashan (Julia)
Zhang, Wei
Zhu, Jingchun
Zinzindohoué, Franck
Zmuda, Erik
Leshchiner, Ignaty
Lander, Eric Steven
Wong, Christopher, M. Eng. Massachusetts Institute of Technology
author2 Broad Institute of MIT and Harvard
author_facet Broad Institute of MIT and Harvard
Fishbein, Lauren
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.
Pacak, Karel
Nathanson, Katherine L.
Wilkerson, Matthew D.
Akbani, Rehan
Ally, Adrian
Amar, Laurence
Amelio, Antonio L.
Arachchi, Harindra
Asa, Sylvia L.
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
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
Danilova, Ludmila
de Cubas, Aguirre A.
de Krijger, Ronald R.
Demchok, John A.
Deutschbein, Timo
Dhalla, Noreen
Dimmock, David
Dinjens, Winand N.M.
Else, Tobias
Eng, Charis
Eschbacher, Jennifer
Fassnacht, Martin
Felau, Ina
Feldman, Michael
Ferguson, Martin L.
Fiddes, Ian
Fishbein, Lauren
Frazer, Scott
Gabriel, Stacey B.
Gardner, Johanna
Gastier-Foster, Julie M.
Gehlenborg, Nils
Gerken, Mark
Getz, Gad
Geurts, Jennifer
Ghayee, Hans K.
Gimenez-Roqueplo, Anne-Paule
Giordano, Thomas J.
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.
Jefferys, Stuart R.
Johnson, Amy R.
Jones, Steven J.M.
Jones, Corbin D.
Kasaian, Katayoon
Kebebew, Electron
Kim, Jaegil
Kimes, Patrick
Knijnenburg, Theo
Korpershoek, Esther
Lander, Eric
Lawrence, Michael S.
Lechan, Ronald
Lee, Darlene
Leraas, Kristen M.
Lerario, Antonio
Lichtenberg, Tara M.
Lin, Pei
Ling, Shiyun
Liu, Jia
LiVolsi, Virginia A.
Lolla, Laxmi
Lotan, Yair
Lu, Yiling
Ma, Yussanne
Maison, Nicole
Makowski, Liza
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.
Murray, Bradley A.
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
Rathmell, W. Kimryn
Riester, Anna
Roach, Jeffrey
Robertson, A. Gordon
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.
Tischler, Arthur S.
Tse, Kane
Uzunangelov, Vlado
van Berkel, Anouk
Veluvolu, Umadevi
Vicha, Ales
Voet, Doug
Waldmann, Jens
Walter, Vonn
Wan, Yunhu
Wang, Zhining
Wang, Tracy S.
Weaver, Joellen
Weinstein, John N.
Weismann, Dirk
Wenz, Brandon
Wilkerson, Matthew D.
Wise, Lisa
Wong, Tina
Wu, Ye
Yang, Liming
Zelinka, Tomas
Zenklusen, Jean C.
Zhang, Jiashan (Julia)
Zhang, Wei
Zhu, Jingchun
Zinzindohoué, Franck
Zmuda, Erik
Leshchiner, Ignaty
Lander, Eric Steven
Wong, Christopher, M. Eng. Massachusetts Institute of Technology
author_sort Fishbein, Lauren
collection MIT
description We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC/PGL susceptibility genes. We identified CSDE1 as a somatically mutated driver gene, complementing four known drivers (HRAS, RET, EPAS1, and NF1). We also discovered fusion genes in PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1. Integrated analysis classified PCCs/PGLs into four molecularly defined groups: a kinase signaling subtype, a pseudohypoxia subtype, a Wnt-altered subtype, driven by MAML3 and CSDE1, and a cortical admixture subtype. Correlates of metastatic PCCs/PGLs included the MAML3 fusion gene. This integrated molecular characterization provides a comprehensive foundation for developing PCC/PGL precision medicine.
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spelling mit-1721.1/1166992022-09-27T10:01:52Z Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma Fishbein, Lauren 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. Pacak, Karel Nathanson, Katherine L. Wilkerson, Matthew D. Akbani, Rehan Ally, Adrian Amar, Laurence Amelio, Antonio L. Arachchi, Harindra Asa, Sylvia L. 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 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 Danilova, Ludmila de Cubas, Aguirre A. de Krijger, Ronald R. Demchok, John A. Deutschbein, Timo Dhalla, Noreen Dimmock, David Dinjens, Winand N.M. Else, Tobias Eng, Charis Eschbacher, Jennifer Fassnacht, Martin Felau, Ina Feldman, Michael Ferguson, Martin L. Fiddes, Ian Fishbein, Lauren Frazer, Scott Gabriel, Stacey B. Gardner, Johanna Gastier-Foster, Julie M. Gehlenborg, Nils Gerken, Mark Getz, Gad Geurts, Jennifer Ghayee, Hans K. Gimenez-Roqueplo, Anne-Paule Giordano, Thomas J. 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. Jefferys, Stuart R. Johnson, Amy R. Jones, Steven J.M. Jones, Corbin D. Kasaian, Katayoon Kebebew, Electron Kim, Jaegil Kimes, Patrick Knijnenburg, Theo Korpershoek, Esther Lander, Eric Lawrence, Michael S. Lechan, Ronald Lee, Darlene Leraas, Kristen M. Lerario, Antonio Lichtenberg, Tara M. Lin, Pei Ling, Shiyun Liu, Jia LiVolsi, Virginia A. Lolla, Laxmi Lotan, Yair Lu, Yiling Ma, Yussanne Maison, Nicole Makowski, Liza 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. Murray, Bradley A. 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 Rathmell, W. Kimryn Riester, Anna Roach, Jeffrey Robertson, A. Gordon 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. Tischler, Arthur S. Tse, Kane Uzunangelov, Vlado van Berkel, Anouk Veluvolu, Umadevi Vicha, Ales Voet, Doug Waldmann, Jens Walter, Vonn Wan, Yunhu Wang, Zhining Wang, Tracy S. Weaver, Joellen Weinstein, John N. Weismann, Dirk Wenz, Brandon Wilkerson, Matthew D. Wise, Lisa Wong, Tina Wu, Ye Yang, Liming Zelinka, Tomas Zenklusen, Jean C. Zhang, Jiashan (Julia) Zhang, Wei Zhu, Jingchun Zinzindohoué, Franck Zmuda, Erik Leshchiner, Ignaty Lander, Eric Steven Wong, Christopher, M. Eng. Massachusetts Institute of Technology Broad Institute of MIT and Harvard Massachusetts Institute of Technology. Department of Biology Massachusetts Institute of Technology. Department of Chemical Engineering Leshchiner, Ignaty Lander, Eric Steven We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC/PGL susceptibility genes. We identified CSDE1 as a somatically mutated driver gene, complementing four known drivers (HRAS, RET, EPAS1, and NF1). We also discovered fusion genes in PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1. Integrated analysis classified PCCs/PGLs into four molecularly defined groups: a kinase signaling subtype, a pseudohypoxia subtype, a Wnt-altered subtype, driven by MAML3 and CSDE1, and a cortical admixture subtype. Correlates of metastatic PCCs/PGLs included the MAML3 fusion gene. This integrated molecular characterization provides a comprehensive foundation for developing PCC/PGL precision medicine. National Institutes of Health (U.S.) (Grant U54HG003273) National Institutes of Health (U.S.) (Grant U54HG003067) National Institutes of Health (U.S.) (Grant U54HG003079) National Institutes of Health (U.S.) (Grant U24CA143799) National Institutes of Health (U.S.) (Grant U24CA143835) National Institutes of Health (U.S.) (Grant U24CA143840) National Institutes of Health (U.S.) (Grant U24CA143843) National Institutes of Health (U.S.) (Grant U24CA143845) National Institutes of Health (U.S.) (Grant U24CA143848) National Institutes of Health (U.S.) (Grant U24CA143858) National Institutes of Health (U.S.) (Grant U24CA143866) National Institutes of Health (U.S.) (Grant U24CA143867) National Institutes of Health (U.S.) (Grant U24CA143882) National Institutes of Health (U.S.) (Grant U24CA143883) National Institutes of Health (U.S.) (Grant U24CA144025) National Institutes of Health (U.S.) (Grant P30CA016672) 2018-06-29T18:33:12Z 2018-06-29T18:33:12Z 2017-02 2016-10 2018-06-28T13:50:37Z Article http://purl.org/eprint/type/JournalArticle 1535-6108 http://hdl.handle.net/1721.1/116699 Fishbein, Lauren et al. “Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.” Cancer Cell 31, 2 (February 2017): 181–193 © 2017 Elsevier Inc http://dx.doi.org/10.1016/J.CCELL.2017.01.001 Cancer Cell Creative Commons Attribution-NonCommercial-NoDerivs License http://creativecommons.org/licenses/by-nc-nd/4.0/ application/pdf Elsevier PMC
spellingShingle Fishbein, Lauren
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.
Pacak, Karel
Nathanson, Katherine L.
Wilkerson, Matthew D.
Akbani, Rehan
Ally, Adrian
Amar, Laurence
Amelio, Antonio L.
Arachchi, Harindra
Asa, Sylvia L.
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
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
Danilova, Ludmila
de Cubas, Aguirre A.
de Krijger, Ronald R.
Demchok, John A.
Deutschbein, Timo
Dhalla, Noreen
Dimmock, David
Dinjens, Winand N.M.
Else, Tobias
Eng, Charis
Eschbacher, Jennifer
Fassnacht, Martin
Felau, Ina
Feldman, Michael
Ferguson, Martin L.
Fiddes, Ian
Fishbein, Lauren
Frazer, Scott
Gabriel, Stacey B.
Gardner, Johanna
Gastier-Foster, Julie M.
Gehlenborg, Nils
Gerken, Mark
Getz, Gad
Geurts, Jennifer
Ghayee, Hans K.
Gimenez-Roqueplo, Anne-Paule
Giordano, Thomas J.
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.
Jefferys, Stuart R.
Johnson, Amy R.
Jones, Steven J.M.
Jones, Corbin D.
Kasaian, Katayoon
Kebebew, Electron
Kim, Jaegil
Kimes, Patrick
Knijnenburg, Theo
Korpershoek, Esther
Lander, Eric
Lawrence, Michael S.
Lechan, Ronald
Lee, Darlene
Leraas, Kristen M.
Lerario, Antonio
Lichtenberg, Tara M.
Lin, Pei
Ling, Shiyun
Liu, Jia
LiVolsi, Virginia A.
Lolla, Laxmi
Lotan, Yair
Lu, Yiling
Ma, Yussanne
Maison, Nicole
Makowski, Liza
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.
Murray, Bradley A.
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
Rathmell, W. Kimryn
Riester, Anna
Roach, Jeffrey
Robertson, A. Gordon
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.
Tischler, Arthur S.
Tse, Kane
Uzunangelov, Vlado
van Berkel, Anouk
Veluvolu, Umadevi
Vicha, Ales
Voet, Doug
Waldmann, Jens
Walter, Vonn
Wan, Yunhu
Wang, Zhining
Wang, Tracy S.
Weaver, Joellen
Weinstein, John N.
Weismann, Dirk
Wenz, Brandon
Wilkerson, Matthew D.
Wise, Lisa
Wong, Tina
Wu, Ye
Yang, Liming
Zelinka, Tomas
Zenklusen, Jean C.
Zhang, Jiashan (Julia)
Zhang, Wei
Zhu, Jingchun
Zinzindohoué, Franck
Zmuda, Erik
Leshchiner, Ignaty
Lander, Eric Steven
Wong, Christopher, M. Eng. Massachusetts Institute of Technology
Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma
title Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma
title_full Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma
title_fullStr Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma
title_full_unstemmed Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma
title_short Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma
title_sort comprehensive molecular characterization of pheochromocytoma and paraganglioma
url http://hdl.handle.net/1721.1/116699
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