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Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma

dc.contributor.authorFishbein, Lauren
dc.contributor.authorWalter, Vonn
dc.contributor.authorDanilova, Ludmila
dc.contributor.authorRobertson, A. Gordon
dc.contributor.authorJohnson, Amy R.
dc.contributor.authorLichtenberg, Tara M.
dc.contributor.authorMurray, Bradley A.
dc.contributor.authorGhayee, Hans K.
dc.contributor.authorElse, Tobias
dc.contributor.authorLing, Shiyun
dc.contributor.authorJefferys, Stuart R.
dc.contributor.authorde Cubas, Aguirre A.
dc.contributor.authorWenz, Brandon
dc.contributor.authorKorpershoek, Esther
dc.contributor.authorAmelio, Antonio L.
dc.contributor.authorMakowski, Liza
dc.contributor.authorRathmell, W. Kimryn
dc.contributor.authorGimenez-Roqueplo, Anne-Paule
dc.contributor.authorGiordano, Thomas J.
dc.contributor.authorAsa, Sylvia L.
dc.contributor.authorTischler, Arthur S.
dc.contributor.authorPacak, Karel
dc.contributor.authorNathanson, Katherine L.
dc.contributor.authorWilkerson, Matthew D.
dc.contributor.authorAkbani, Rehan
dc.contributor.authorAlly, Adrian
dc.contributor.authorAmar, Laurence
dc.contributor.authorAmelio, Antonio L.
dc.contributor.authorArachchi, Harindra
dc.contributor.authorAsa, Sylvia L.
dc.contributor.authorAuchus, Richard J.
dc.contributor.authorAuman, J. Todd
dc.contributor.authorBaertsch, Robert
dc.contributor.authorBalasundaram, Miruna
dc.contributor.authorBalu, Saianand
dc.contributor.authorBartsch, Detlef K.
dc.contributor.authorBaudin, Eric
dc.contributor.authorBauer, Thomas
dc.contributor.authorBeaver, Allison
dc.contributor.authorBenz, Christopher
dc.contributor.authorBeroukhim, Rameen
dc.contributor.authorBeuschlein, Felix
dc.contributor.authorBodenheimer, Tom
dc.contributor.authorBoice, Lori
dc.contributor.authorBowlby, Reanne
dc.contributor.authorBrooks, Denise
dc.contributor.authorCarlsen, Rebecca
dc.contributor.authorCarter, Suzie
dc.contributor.authorCassol, Clarissa A.
dc.contributor.authorCherniack, Andrew D.
dc.contributor.authorChin, Lynda
dc.contributor.authorCho, Juok
dc.contributor.authorChuah, Eric
dc.contributor.authorChudamani, Sudha
dc.contributor.authorCope, Leslie
dc.contributor.authorCrain, Daniel
dc.contributor.authorCurley, Erin
dc.contributor.authorDanilova, Ludmila
dc.contributor.authorde Cubas, Aguirre A.
dc.contributor.authorde Krijger, Ronald R.
dc.contributor.authorDemchok, John A.
dc.contributor.authorDeutschbein, Timo
dc.contributor.authorDhalla, Noreen
dc.contributor.authorDimmock, David
dc.contributor.authorDinjens, Winand N.M.
dc.contributor.authorElse, Tobias
dc.contributor.authorEng, Charis
dc.contributor.authorEschbacher, Jennifer
dc.contributor.authorFassnacht, Martin
dc.contributor.authorFelau, Ina
dc.contributor.authorFeldman, Michael
dc.contributor.authorFerguson, Martin L.
dc.contributor.authorFiddes, Ian
dc.contributor.authorFishbein, Lauren
dc.contributor.authorFrazer, Scott
dc.contributor.authorGabriel, Stacey B.
dc.contributor.authorGardner, Johanna
dc.contributor.authorGastier-Foster, Julie M.
dc.contributor.authorGehlenborg, Nils
dc.contributor.authorGerken, Mark
dc.contributor.authorGetz, Gad
dc.contributor.authorGeurts, Jennifer
dc.contributor.authorGhayee, Hans K.
dc.contributor.authorGimenez-Roqueplo, Anne-Paule
dc.contributor.authorGiordano, Thomas J.
dc.contributor.authorGoldman, Mary
dc.contributor.authorGraim, Kiley
dc.contributor.authorGupta, Manaswi
dc.contributor.authorHaan, David
dc.contributor.authorHahner, Stefanie
dc.contributor.authorHantel, Constanze
dc.contributor.authorHaussler, David
dc.contributor.authorHayes, D. Neil
dc.contributor.authorHeiman, David I.
dc.contributor.authorHoadley, Katherine A.
dc.contributor.authorHolt, Robert A.
dc.contributor.authorHoyle, Alan P.
dc.contributor.authorHuang, Mei
dc.contributor.authorHunt, Bryan
dc.contributor.authorHutter, Carolyn M.
dc.contributor.authorJefferys, Stuart R.
dc.contributor.authorJohnson, Amy R.
dc.contributor.authorJones, Steven J.M.
dc.contributor.authorJones, Corbin D.
dc.contributor.authorKasaian, Katayoon
dc.contributor.authorKebebew, Electron
dc.contributor.authorKim, Jaegil
dc.contributor.authorKimes, Patrick
dc.contributor.authorKnijnenburg, Theo
dc.contributor.authorKorpershoek, Esther
dc.contributor.authorLander, Eric
dc.contributor.authorLawrence, Michael S.
dc.contributor.authorLechan, Ronald
dc.contributor.authorLee, Darlene
dc.contributor.authorLeraas, Kristen M.
dc.contributor.authorLerario, Antonio
dc.contributor.authorLichtenberg, Tara M.
dc.contributor.authorLin, Pei
dc.contributor.authorLing, Shiyun
dc.contributor.authorLiu, Jia
dc.contributor.authorLiVolsi, Virginia A.
dc.contributor.authorLolla, Laxmi
dc.contributor.authorLotan, Yair
dc.contributor.authorLu, Yiling
dc.contributor.authorMa, Yussanne
dc.contributor.authorMaison, Nicole
dc.contributor.authorMakowski, Liza
dc.contributor.authorMallery, David
dc.contributor.authorMannelli, Massimo
dc.contributor.authorMarquard, Jessica
dc.contributor.authorMarra, Marco A.
dc.contributor.authorMatthew, Thomas
dc.contributor.authorMayo, Michael
dc.contributor.authorMéatchi, Tchao
dc.contributor.authorMeng, Shaowu
dc.contributor.authorMerino, Maria J.
dc.contributor.authorMete, Ozgur
dc.contributor.authorMeyerson, Matthew
dc.contributor.authorMieczkowski, Piotr A.
dc.contributor.authorMills, Gordon B.
dc.contributor.authorMoore, Richard A.
dc.contributor.authorMorozova, Olena
dc.contributor.authorMorris, Scott
dc.contributor.authorMose, Lisle E.
dc.contributor.authorMungall, Andrew J.
dc.contributor.authorMurray, Bradley A.
dc.contributor.authorNaresh, Rashi
dc.contributor.authorNathanson, Katherine L.
dc.contributor.authorNewton, Yulia
dc.contributor.authorNg, Sam
dc.contributor.authorNi, Ying
dc.contributor.authorNoble, Michael S.
dc.contributor.authorNwariaku, Fiemu
dc.contributor.authorPacak, Karel
dc.contributor.authorParker, Joel S.
dc.contributor.authorPaul, Evan
dc.contributor.authorPenny, Robert
dc.contributor.authorPerou, Charles M.
dc.contributor.authorPerou, Amy H.
dc.contributor.authorPihl, Todd
dc.contributor.authorPowers, James
dc.contributor.authorRabaglia, Jennifer
dc.contributor.authorRadenbaugh, Amie
dc.contributor.authorRamirez, Nilsa C.
dc.contributor.authorRao, Arjun
dc.contributor.authorRathmell, W. Kimryn
dc.contributor.authorRiester, Anna
dc.contributor.authorRoach, Jeffrey
dc.contributor.authorRobertson, A. Gordon
dc.contributor.authorSadeghi, Sara
dc.contributor.authorSaksena, Gordon
dc.contributor.authorSalama, Sofie
dc.contributor.authorSaller, Charles
dc.contributor.authorSandusky, George
dc.contributor.authorSbiera, Silviu
dc.contributor.authorSchein, Jacqueline E.
dc.contributor.authorSchumacher, Steven E.
dc.contributor.authorShelton, Candace
dc.contributor.authorShelton, Troy
dc.contributor.authorSheth, Margi
dc.contributor.authorShi, Yan
dc.contributor.authorShih, Juliann
dc.contributor.authorShmulevich, Ilya
dc.contributor.authorSimons, Janae V.
dc.contributor.authorSipahimalani, Payal
dc.contributor.authorSkelly, Tara
dc.contributor.authorSofia, Heidi J.
dc.contributor.authorSokolov, Artem
dc.contributor.authorSoloway, Matthew G.
dc.contributor.authorSougnez, Carrie
dc.contributor.authorStuart, Josh
dc.contributor.authorSun, Charlie
dc.contributor.authorSwatloski, Teresa
dc.contributor.authorTam, Angela
dc.contributor.authorTan, Donghui
dc.contributor.authorTarnuzzer, Roy
dc.contributor.authorTarvin, Katherine
dc.contributor.authorThiessen, Nina
dc.contributor.authorThorne, Leigh B.
dc.contributor.authorTimmers, Henri J.
dc.contributor.authorTischler, Arthur S.
dc.contributor.authorTse, Kane
dc.contributor.authorUzunangelov, Vlado
dc.contributor.authorvan Berkel, Anouk
dc.contributor.authorVeluvolu, Umadevi
dc.contributor.authorVicha, Ales
dc.contributor.authorVoet, Doug
dc.contributor.authorWaldmann, Jens
dc.contributor.authorWalter, Vonn
dc.contributor.authorWan, Yunhu
dc.contributor.authorWang, Zhining
dc.contributor.authorWang, Tracy S.
dc.contributor.authorWeaver, Joellen
dc.contributor.authorWeinstein, John N.
dc.contributor.authorWeismann, Dirk
dc.contributor.authorWenz, Brandon
dc.contributor.authorWilkerson, Matthew D.
dc.contributor.authorWise, Lisa
dc.contributor.authorWong, Tina
dc.contributor.authorWu, Ye
dc.contributor.authorYang, Liming
dc.contributor.authorZelinka, Tomas
dc.contributor.authorZenklusen, Jean C.
dc.contributor.authorZhang, Jiashan (Julia)
dc.contributor.authorZhang, Wei
dc.contributor.authorZhu, Jingchun
dc.contributor.authorZinzindohoué, Franck
dc.contributor.authorZmuda, Erik
dc.contributor.authorLeshchiner, Ignaty
dc.contributor.authorLander, Eric Steven
dc.contributor.authorWong, Christopher, M. Eng. Massachusetts Institute of Technology
dc.date.accessioned2018-06-29T18:33:12Z
dc.date.available2018-06-29T18:33:12Z
dc.date.issued2017-02
dc.date.submitted2016-10
dc.identifier.issn1535-6108
dc.identifier.urihttp://hdl.handle.net/1721.1/116699
dc.description.abstractWe 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.en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U54HG003273)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U54HG003067)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U54HG003079)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U24CA143799)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U24CA143835)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U24CA143840)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U24CA143843)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U24CA143845)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U24CA143848)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U24CA143858)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U24CA143866)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U24CA143867)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U24CA143882)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U24CA143883)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant U24CA144025)en_US
dc.description.sponsorshipNational Institutes of Health (U.S.) (Grant P30CA016672)en_US
dc.publisherElsevieren_US
dc.relation.isversionofhttp://dx.doi.org/10.1016/J.CCELL.2017.01.001en_US
dc.rightsCreative Commons Attribution-NonCommercial-NoDerivs Licenseen_US
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/en_US
dc.sourcePMCen_US
dc.titleComprehensive Molecular Characterization of Pheochromocytoma and Paragangliomaen_US
dc.typeArticleen_US
dc.identifier.citationFishbein, Lauren et al. “Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma.” Cancer Cell 31, 2 (February 2017): 181–193 © 2017 Elsevier Incen_US
dc.contributor.departmentBroad Institute of MIT and Harvarden_US
dc.contributor.departmentMassachusetts Institute of Technology. Department of Biologyen_US
dc.contributor.departmentMassachusetts Institute of Technology. Department of Chemical Engineeringen_US
dc.contributor.mitauthorLeshchiner, Ignaty
dc.contributor.mitauthorLander, Eric Steven
dc.relation.journalCancer Cellen_US
dc.eprint.versionAuthor's final manuscripten_US
dc.type.urihttp://purl.org/eprint/type/JournalArticleen_US
eprint.statushttp://purl.org/eprint/status/PeerRevieweden_US
dc.date.updated2018-06-28T13:50:37Z
dspace.orderedauthorsFishbein, 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.; 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; 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 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; 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 (Julia); Zhang, Wei; Zhu, Jingchun; Zinzindohoué, Franck; Zmuda, Eriken_US
dspace.embargo.termsNen_US
mit.licensePUBLISHER_CCen_US


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