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Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma
- 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;
- Network, The Cancer Genome Atlas Research;
- 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;
- 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;
- Danilova, Ludmila;
- de Cubas, Aguirre A;
- de Krijger, Ronald R;
- Demchok, John A;
- Deutschbein, Timo;
- Dhalla, Noreen;
- Dimmock, David;
- Dinjens, Winand NM;
- 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 JM;
- 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;
- Leshchiner, Ignaty;
- 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;
- Wong, Christopher;
- Wu, Ye;
- Yang, Liming;
- Zelinka, Tomas;
- Zenklusen, Jean C;
- Zhang, Jiashan;
- Zhang, Wei;
- Zhu, Jingchun;
- Zinzindohoué, Franck;
- Zmuda, Erik;
- Pacak, Karel;
- Nathanson, Katherine L;
- Wilkerson, Matthew D
- et al.
Published Web Location
https://doi.org/10.1016/j.ccell.2017.01.001Abstract
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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