Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma
Creators: name: Fassnacht, Martin
name: Gupta, Manaswi
name: van Berkel, Anouk
name: Marquard, Jessica
name: Else, Tobias
name: Fiddes, Ian
name: Shmulevich, Ilya
name: Leshchiner, Ignaty
name: Mete, Ozgur
name: Sofia, Heidi J.
name: Gastier-Foster, Julie M.
name: Amelio, Antonio L.
name: Auchus, Richard J.
name: Crain, Daniel
name: Bowen, Jay
name: Ling, Shiyun
name: Parker, Joel S.
name: Salama, Sofie
name: Bodenheimer, Tom
name: Tarvin, Katherine
name: Haussler, David
name: Pihl, Todd
name: Sbiera, Silviu
name: Akbani, Rehan
name: Mannelli, Massimo
name: Makowski, Liza
name: LiVolsi, Virginia A.
name: Tse, Kane
name: Dinjens, Winand N.M.
name: Johnson, Amy R.
name: Haan, David
name: Wong, Christopher
name: Hahner, Stefanie
name: Lander, Eric
name: Riester, Anna
name: Paul, Evan
name: Maison, Nicole
name: Ng, Sam
name: Kebebew, Electron
name: Lerario, Antonio
name: Dhalla, Noreen
name: Wang, Zhining
name: Perou, Charles M.
name: Ferguson, Martin L.
name: Auman, J. Todd
name: Walter, Vonn
name: Chuah, Eric
name: Leraas, Kristen M.
name: Asa, Sylvia L.
name: Baertsch, Robert
name: Nathanson, Katherine L.
name: Amar, Laurence
name: Shelton, Troy
name: Demchok, John A.
name: Uzunangelov, Vlado
name: Jones, Corbin D.
name: Shi, Yan
name: Schein, Jacqueline E.
name: Stuart, Josh
name: Korpershoek, Esther
name: Marra, Marco A.
name: Rabaglia, Jennifer
name: Wong, Tina
name: Voet, Doug
name: Shih, Juliann
name: Schumacher, Steven E.
name: Rathmell, W. Kimryn
name: Zhang, Wei
name: Hantel, Constanze
name: Cherniack, Andrew D.
name: Vicha, Ales
name: Getz, Gad
name: Gerken, Mark
name: Deutschbein, Timo
name: Kasaian, Katayoon
name: Eng, Charis
name: Wenz, Brandon
name: Waldmann, Jens
name: Carter, Suzie
name: Murray, Bradley A.
name: Weaver, Joellen
name: Hoyle, Alan P.
name: Swatloski, Teresa
name: Carlsen, Rebecca
name: Naresh, Rashi
name: Ramirez, Nilsa C.
name: Morris, Scott
name: Perou, Amy H.
name: Cope, Leslie
name: Thorne, Leigh B.
name: Morozova, Olena
name: Matthew, Thomas
name: Roach, Jeffrey
name: Simons, Janae V.
name: Sun, Charlie
name: Lu, Yiling
name: Radenbaugh, Amie
name: Bauer, Thomas
name: Ni, Ying
name: Noble, Michael S.
name: Baudin, Eric
name: Zhu, Jingchun
name: Bartsch, Detlef K.
name: Zhang, Jiashan (Julia)
name: Balu, Saianand
name: Giordano, Thomas J.
name: Lechan, Ronald
name: Meng, Shaowu
name: Beuschlein, Felix
name: Skelly, Tara
name: Hutter, Carolyn M.
name: Ghayee, Hans K.
name: Frazer, Scott
name: Tam, Angela
name: Wise, Lisa
name: Holt, Robert A.
name: Danilova, Ludmila
name: Hunt, Bryan
name: Mills, Gordon B.
name: Kimes, Patrick
name: Shelton, Candace
name: Zmuda, Erik
name: Gabriel, Stacey B.
name: Ma, Yussanne
name: Chudamani, Sudha
name: Hayes, D. Neil
name: Balasundaram, Miruna
name: Liu, Jia
name: Wang, Tracy S.
name: Huang, Mei
name: Meyerson, Matthew
name: Moore, Richard A.
name: Heiman, David I.
name: Bowlby, Reanne
name: Penny, Robert
name: Wan, Yunhu
name: Lawrence, Michael S.
name: Zinzindohoué, Franck
name: Mallery, David
name: Pacak, Karel
name: Arachchi, Harindra
name: Brooks, Denise
name: Weismann, Dirk
name: Mungall, Andrew J.
name: Wu, Ye
name: Lolla, Laxmi
name: Tan, Donghui
name: Merino, Maria J.
name: Benz, Christopher
name: Curley, Erin
name: Zenklusen, Jean C.
name: Kim, Jaegil
name: de Cubas, Aguirre A.
name: Feldman, Michael
name: Tischler, Arthur S.
name: Knijnenburg, Theo
name: Fishbein, Lauren
name: Felau, Ina
name: Sokolov, Artem
name: Gardner, Johanna
name: Newton, Yulia
name: Robertson, A. Gordon
name: Zelinka, Tomas
name: Mayo, Michael
name: Lee, Darlene
name: Weinstein, John N.
name: Goldman, Mary
name: de Krijger, Ronald R.
name: Sougnez, Carrie
name: Gehlenborg, Nils
name: Graim, Kiley
name: Powers, James
name: Cassol, Clarissa A.
name: Chin, Lynda
name: Lichtenberg, Tara M.
name: Tarnuzzer, Roy
name: Lotan, Yair
name: Dimmock, David
name: Timmers, Henri J.
name: Eschbacher, Jennifer
name: Jefferys, Stuart R.
name: Sandusky, George
name: Mose, Lisle E.
name: Thiessen, Nina
name: Gimenez-Roqueplo, Anne-Paule
name: Saksena, Gordon
name: Lin, Pei
name: Cho, Juok
name: Nwariaku, Fiemu
name: Ally, Adrian
name: Hoadley, Katherine A.
name: Sadeghi, Sara
name: Yang, Liming
name: Rao, Arjun
name: Méatchi, Tchao
name: Saller, Charles
name: Veluvolu, Umadevi
name: Mieczkowski, Piotr A.
name: Sipahimalani, Payal
name: Wilkerson, Matthew D.
name: Beaver, Allison
name: Jones, Steven J.M.
name: Soloway, Matthew G.
name: Beroukhim, Rameen
name: Geurts, Jennifer
name: Sheth, Margi
name: Boice, Lori
Publisher: name: The University of North Carolina at Chapel Hill University Libraries
Year: 2017

description: 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 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.