Prolonged Response to Trastuzumab in a Patient With HER2-Nonamplified Breast Cancer With Elevated HER2 Dimerization Harboring an ERBB2 S310F Mutation

被引:29
作者
Chumsri, Saranya [1 ]
Weidler, Jodi [2 ]
Ali, Siraj [3 ]
Balasubramanian, Sohail [3 ]
Wallweber, Gerald [2 ]
DeFazio-Eli, Lisa [2 ]
Chenna, Ahmed [2 ]
Huang, Weidong [2 ]
DeRidder, Angela [4 ]
Goicocheal, Lindsay [4 ]
Perez, Edith A. [1 ]
机构
[1] Mayo Clin, Jacksonville, FL 32224 USA
[2] Monogram Biosci LabCorp, San Francisco, CA USA
[3] Fdn Med, Cambridge, MA USA
[4] Univ Maryland, Greenebaum Canc Ctr, Baltimore, MD 21201 USA
来源
JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK | 2015年 / 13卷 / 09期
关键词
EXPRESSION; EVOLUTION; DOMAIN;
D O I
10.6004/jnccn.2015.0132
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
In the current genomic era, increasing evidence demonstrates that approximately 2% of HER2-negative breast cancers, by current standard testings, harbor activating mutations of ERBB2. However, whether patients with HER2-negative breast cancer with activating mutations of ERBB2 also experience response to anti-HER2 therapies remains unclear. This case report describes a patient with HER2-nonamplified heavily pretreated breast cancer who experienced prolonged response to trastuzumab in combination with pertuzumab and fulvestrant. Further molecular analysis demonstrated that her tumors had an elevated HER2 dimerization that corresponded to ERBB2 S310F mutation. Located in the extracellular domain of the HER2 protein, this mutation was reported to promote noncovalent dimerization that results in the activation of the downstream signaling pathways. This case highlights the fact that HER2-targeted therapy may be valuable in patients harboring an ERBB2 S310F mutation.
引用
收藏
页码:1066 / 1070
页数:5
相关论文
共 28 条
[1]  
[Anonymous], CANC RES
[2]   Sequence analysis of mutations and translocations across breast cancer subtypes [J].
Banerji, Shantanu ;
Cibulskis, Kristian ;
Rangel-Escareno, Claudia ;
Brown, Kristin K. ;
Carter, Scott L. ;
Frederick, Abbie M. ;
Lawrence, Michael S. ;
Sivachenko, Andrey Y. ;
Sougnez, Carrie ;
Zou, Lihua ;
Cortes, Maria L. ;
Fernandez-Lopez, Juan C. ;
Peng, Shouyong ;
Ardlie, Kristin G. ;
Auclair, Daniel ;
Bautista-Pina, Veronica ;
Duke, Fujiko ;
Francis, Joshua ;
Jung, Joonil ;
Maffuz-Aziz, Antonio ;
Onofrio, Robert C. ;
Parkin, Melissa ;
Pho, Nam H. ;
Quintanar-Jurado, Valeria ;
Ramos, Alex H. ;
Rebollar-Vega, Rosa ;
Rodriguez-Cuevas, Sergio ;
Romero-Cordoba, Sandra L. ;
Schumacher, Steven E. ;
Stransky, Nicolas ;
Thompson, Kristin M. ;
Uribe-Figueroa, Laura ;
Baselga, Jose ;
Beroukhim, Rameen ;
Polyak, Kornelia ;
Sgroi, Dennis C. ;
Richardson, Andrea L. ;
Jimenez-Sanchez, Gerardo ;
Lander, Eric S. ;
Gabriel, Stacey B. ;
Garraway, Levi A. ;
Golub, Todd R. ;
Melendez-Zajgla, Jorge ;
Toker, Alex ;
Getz, Gad ;
Hidalgo-Miranda, Alfredo ;
Meyerson, Matthew .
NATURE, 2012, 486 (7403) :405-409
[3]   The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity [J].
Barretina, Jordi ;
Caponigro, Giordano ;
Stransky, Nicolas ;
Venkatesan, Kavitha ;
Margolin, Adam A. ;
Kim, Sungjoon ;
Wilson, Christopher J. ;
Lehar, Joseph ;
Kryukov, Gregory V. ;
Sonkin, Dmitriy ;
Reddy, Anupama ;
Liu, Manway ;
Murray, Lauren ;
Berger, Michael F. ;
Monahan, John E. ;
Morais, Paula ;
Meltzer, Jodi ;
Korejwa, Adam ;
Jane-Valbuena, Judit ;
Mapa, Felipa A. ;
Thibault, Joseph ;
Bric-Furlong, Eva ;
Raman, Pichai ;
Shipway, Aaron ;
Engels, Ingo H. ;
Cheng, Jill ;
Yu, Guoying K. ;
Yu, Jianjun ;
Aspesi, Peter, Jr. ;
de Silva, Melanie ;
Jagtap, Kalpana ;
Jones, Michael D. ;
Wang, Li ;
Hatton, Charles ;
Palescandolo, Emanuele ;
Gupta, Supriya ;
Mahan, Scott ;
Sougnez, Carrie ;
Onofrio, Robert C. ;
Liefeld, Ted ;
MacConaill, Laura ;
Winckler, Wendy ;
Reich, Michael ;
Li, Nanxin ;
Mesirov, Jill P. ;
Gabriel, Stacey B. ;
Getz, Gad ;
Ardlie, Kristin ;
Chan, Vivien ;
Myer, Vic E. .
NATURE, 2012, 483 (7391) :603-607
[4]   Integrated genomic analyses of ovarian carcinoma [J].
Bell, D. ;
Berchuck, A. ;
Birrer, M. ;
Chien, J. ;
Cramer, D. W. ;
Dao, F. ;
Dhir, R. ;
DiSaia, P. ;
Gabra, H. ;
Glenn, P. ;
Godwin, A. K. ;
Gross, J. ;
Hartmann, L. ;
Huang, M. ;
Huntsman, D. G. ;
Iacocca, M. ;
Imielinski, M. ;
Kalloger, S. ;
Karlan, B. Y. ;
Levine, D. A. ;
Mills, G. B. ;
Morrison, C. ;
Mutch, D. ;
Olvera, N. ;
Orsulic, S. ;
Park, K. ;
Petrelli, N. ;
Rabeno, B. ;
Rader, J. S. ;
Sikic, B. I. ;
Smith-McCune, K. ;
Sood, A. K. ;
Bowtell, D. ;
Penny, R. ;
Testa, J. R. ;
Chang, K. ;
Dinh, H. H. ;
Drummond, J. A. ;
Fowler, G. ;
Gunaratne, P. ;
Hawes, A. C. ;
Kovar, C. L. ;
Lewis, L. R. ;
Morgan, M. B. ;
Newsham, I. F. ;
Santibanez, J. ;
Reid, J. G. ;
Trevino, L. R. ;
Wu, Y. -Q. ;
Wang, M. .
NATURE, 2011, 474 (7353) :609-615
[5]   Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer [J].
Bose, Ron ;
Kavuri, Shyam M. ;
Searleman, Adam C. ;
Shen, Wei ;
Shen, Dong ;
Koboldt, Daniel C. ;
Monsey, John ;
Goel, Nicholas ;
Aronson, Adam B. ;
Li, Shunqiang ;
Ma, Cynthia X. ;
Ding, Li ;
Mardis, Elaine R. ;
Ellis, Matthew J. .
CANCER DISCOVERY, 2013, 3 (02) :224-237
[6]   Whole-genome analysis informs breast cancer response to aromatase inhibition [J].
Ellis, Matthew J. ;
Ding, Li ;
Shen, Dong ;
Luo, Jingqin ;
Suman, Vera J. ;
Wallis, John W. ;
Van Tine, Brian A. ;
Hoog, Jeremy ;
Goiffon, Reece J. ;
Goldstein, Theodore C. ;
Ng, Sam ;
Lin, Li ;
Crowder, Robert ;
Snider, Jacqueline ;
Ballman, Karla ;
Weber, Jason ;
Chen, Ken ;
Koboldt, Daniel C. ;
Kandoth, Cyriac ;
Schierding, William S. ;
McMichael, Joshua F. ;
Miller, Christopher A. ;
Lu, Charles ;
Harris, Christopher C. ;
McLellan, Michael D. ;
Wendl, Michael C. ;
DeSchryver, Katherine ;
Allred, D. Craig ;
Esserman, Laura ;
Unzeitig, Gary ;
Margenthaler, Julie ;
Babiera, G. V. ;
Marcom, P. Kelly ;
Guenther, J. M. ;
Leitch, Marilyn ;
Hunt, Kelly ;
Olson, John ;
Tao, Yu ;
Maher, Christopher A. ;
Fulton, Lucinda L. ;
Fulton, Robert S. ;
Harrison, Michelle ;
Oberkfell, Ben ;
Du, Feiyu ;
Demeter, Ryan ;
Vickery, Tammi L. ;
Elhammali, Adnan ;
Piwnica-Worms, Helen ;
McDonald, Sandra ;
Watson, Mark .
NATURE, 2012, 486 (7403) :353-360
[7]   Insights into ErbB signaling from the structure of the ErbB2-pertuzumab complex [J].
Franklin, MC ;
Carey, KD ;
Vajdos, FF ;
Leahy, DJ ;
de Vos, AM ;
Sliwkowski, MX .
CANCER CELL, 2004, 5 (04) :317-328
[8]   Functional analysis of receptor tyrosine kinase mutations in lung cancer identifies oncogenic extracellular domain mutations of ERBB2 [J].
Greulich, Heidi ;
Kaplan, Bethany ;
Mertins, Philipp ;
Chen, Tzu-Hsiu ;
Tanaka, Kumiko E. ;
Yun, Cai-Hong ;
Zhang, Xiaohong ;
Lee, Se-Hoon ;
Cho, Jeonghee ;
Ambrogio, Lauren ;
Liao, Rachel ;
Imielinski, Marcin ;
Banerji, Shantanu ;
Berger, Alice H. ;
Lawrence, Michael S. ;
Zhang, Jinghui ;
Pho, Nam H. ;
Walker, Sarah R. ;
Winckler, Wendy ;
Getz, Gad ;
Frank, David ;
Hahn, William C. ;
Eck, Michael J. ;
Mani, D. R. ;
Jaffe, Jacob D. ;
Carr, Steven A. ;
Wong, Kwok-Kin ;
Meyerson, Matthew .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2012, 109 (36) :14476-14481
[9]   The ErbB2/ErbB3 heterodimer functions as an oncogenic unit: ErbB2 requires ErbB3 to drive breast tumor cell proliferation [J].
Holbro, T ;
Beerli, RR ;
Maurer, F ;
Koziczak, M ;
Barbas, CF ;
Hynes, NE .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (15) :8933-8938
[10]   Comparison of Central HER2 Testing With Quantitative Total HER2 Expression and HER2 Homodimer Measurements Using a Novel Proximity-Based Assay [J].
Huang, Weidong ;
Reinholz, Monica ;
Weidler, Jodi ;
Lie, Yolanda ;
Paquet, Agnes ;
Whitcomb, Jeannette ;
Lingle, Wilma ;
Jenkins, Robert B. ;
Chen, Beiyun ;
Larson, Jeffrey S. ;
Tan, Yuping ;
Sherwood, Thomas ;
Bates, Michael ;
Perez, Edith A. .
AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 2010, 134 (02) :303-311