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.
- 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
DOIAbstract
SummaryWe 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 subty...
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