Extramedullary myeloma whole genome sequencing reveals novel mutations in Cereblon, proteasome subunit G2 and the glucocorticoid receptor in multi drug resistant disease

被引:47
作者
Egan, Jan B. [1 ]
Kortuem, K. Martin [1 ]
Kurdoglu, Ahmet [2 ]
Izatt, Tyler [2 ]
Aldrich, Jessica [2 ]
Reiman, Rebecca [2 ]
Phillips, Lori [2 ]
Baker, Angela [2 ]
Shi, Chang-Xin [1 ]
Schmidt, Jessica [1 ]
Liang, Winnie S. [2 ]
Craig, David W. [2 ]
Carpten, John D. [2 ]
Stewart, A. Keith [1 ]
机构
[1] Mayo Clin Scottsdale, Scottsdale, AZ 85259 USA
[2] Translat Genom Res Inst, Phoenix, AZ USA
关键词
myeloma; CRBN; NR3C1; PSMG2; drug resistance; EXPRESSION;
D O I
10.1111/bjh.12291
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:748 / 751
页数:4
相关论文
共 10 条
[1]   Targeting the PI3K signaling pathway in cancer therapy [J].
Bartholomeusz, Chandra ;
Gonzalez-Angulo, Ana Maria .
EXPERT OPINION ON THERAPEUTIC TARGETS, 2012, 16 (01) :121-130
[2]   Variations of the human glucocorticoid receptor gene (NR3C1): Pathological and in vitro mutations.and polymorphisms [J].
Bray, PJ ;
Cotton, RGH .
HUMAN MUTATION, 2003, 21 (06) :557-568
[3]   Initial genome sequencing and analysis of multiple myeloma [J].
Chapman, Michael A. ;
Lawrence, Michael S. ;
Keats, Jonathan J. ;
Cibulskis, Kristian ;
Sougnez, Carrie ;
Schinzel, Anna C. ;
Harview, Christina L. ;
Brunet, Jean-Philippe ;
Ahmann, Gregory J. ;
Adli, Mazhar ;
Anderson, Kenneth C. ;
Ardlie, Kristin G. ;
Auclair, Daniel ;
Baker, Angela ;
Bergsagel, P. Leif ;
Bernstein, Bradley E. ;
Drier, Yotam ;
Fonseca, Rafael ;
Gabriel, Stacey B. ;
Hofmeister, Craig C. ;
Jagannath, Sundar ;
Jakubowiak, Andrzej J. ;
Krishnan, Amrita ;
Levy, Joan ;
Liefeld, Ted ;
Lonial, Sagar ;
Mahan, Scott ;
Mfuko, Bunmi ;
Monti, Stefano ;
Perkins, Louise M. ;
Onofrio, Robb ;
Pugh, Trevor J. ;
Rajkumar, S. Vincent ;
Ramos, Alex H. ;
Siegel, David S. ;
Sivachenko, Andrey ;
Stewart, A. Keith ;
Trudel, Suzanne ;
Vij, Ravi ;
Voet, Douglas ;
Winckler, Wendy ;
Zimmerman, Todd ;
Carpten, John ;
Trent, Jeff ;
Hahn, William C. ;
Garraway, Levi A. ;
Meyerson, Matthew ;
Lander, Eric S. ;
Getz, Gad ;
Golub, Todd R. .
NATURE, 2011, 471 (7339) :467-472
[4]   Thalidomide in Total Therapy 2 Overcomes Inferior Prognosis of Myeloma with Low Expression of the Glucocorticoid Receptor Gene NR3C1 [J].
Heuck, Christoph J. ;
Szymonifka, Jackie ;
Hansen, Emily ;
Shaughnessy, John D., Jr. ;
Usmani, Saad Z. ;
van Rhee, Frits ;
Anaissie, Elias ;
Nair, Bijay ;
Waheed, Sarah ;
Alsayed, Yazan ;
Petty, Nathan ;
Bailey, Clyde ;
Epstein, Joshua ;
Hoering, Antje ;
Crowley, John ;
Barlogie, Bart .
CLINICAL CANCER RESEARCH, 2012, 18 (19) :5499-5506
[5]   A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes [J].
Hirano, Y ;
Hendil, KB ;
Yashiroda, H ;
Iemura, S ;
Nagane, R ;
Hioki, Y ;
Natsume, T ;
Tanaka, K ;
Murata, S .
NATURE, 2005, 437 (7063) :1381-1385
[6]   PIK3CA Mutation H1047R Is Associated with Response to PI3K/AKT/mTOR Signaling Pathway Inhibitors in Early-Phase Clinical Trials [J].
Janku, Filip ;
Wheler, Jennifer J. ;
Naing, Aung ;
Falchook, Gerald S. ;
Hong, David S. ;
Stepanek, Vanda M. ;
Fu, Siqing ;
Piha-Paul, Sarina A. ;
Lee, J. Jack ;
Luthra, Rajyalakshmi ;
Tsimberidou, Apostolia M. ;
Kurzrock, Razelle .
CANCER RESEARCH, 2013, 73 (01) :276-284
[7]   Promiscuous mutations activate the noncanonical NF-κB pathway in multiple myeloma [J].
Keats, Jonathan J. ;
Fonseca, Rafael ;
Chesi, Marta ;
Schop, Roelandt ;
Baker, Angela ;
Ching, Wee-Joo ;
Van Wier, Scott ;
Tiedemann, Rodger ;
Shi, Chang-Xin ;
Sebag, Michael ;
Braggio, Esteban ;
Henry, Travis ;
Zhu, Yuan-Xiao ;
Fogle, Homer ;
Price-Troska, Tammy ;
Ahmann, Gregory ;
Mancini, Catherine ;
Brents, Leslie A. ;
Kumar, Shaji ;
Greipp, Philip ;
Dispenzieri, Angela ;
Bryant, Barb ;
Mulligan, George ;
Bruhn, Laurakay ;
Barrett, Michael ;
Valdez, Riccardo ;
Trent, Jeff ;
Stewart, A. Keith ;
Carpten, John ;
Bergsagel, P. Leif .
CANCER CELL, 2007, 12 (02) :131-144
[8]  
MOALLI PA, 1992, BLOOD, V79, P213
[9]   Intraclonal heterogeneity and distinct molecular mechanisms characterize the development of t(4;14) and t(11;14) myeloma [J].
Walker, Brian A. ;
Wardell, Christopher P. ;
Melchor, Lorenzo ;
Hulkki, Sanna ;
Potter, Nicola E. ;
Johnson, David C. ;
Fenwick, Kerry ;
Kozarewa, Iwanka ;
Gonzalez, David ;
Lord, Christopher J. ;
Ashworth, Alan ;
Davies, Faith E. ;
Morgan, Gareth J. .
BLOOD, 2012, 120 (05) :1077-1086
[10]   Cereblon expression is required for the antimyeloma activity of lenalidomide and pomalidomide [J].
Zhu, Yuan Xiao ;
Braggio, Esteban ;
Shi, Chang-Xin ;
Bruins, Laura A. ;
Schmidt, Jessica E. ;
Van Wier, Scott ;
Chang, Xiu-Bao ;
Bjorklund, Chad C. ;
Fonseca, Rafael ;
Bergsagel, P. Leif ;
Orlowski, Robert Z. ;
Stewart, A. Keith .
BLOOD, 2011, 118 (18) :4771-4779