ESR1 Mutations: From Benchside to Bedside

被引:0
作者
Massard, V. [1 ]
Harle, A. [2 ]
Uwer, L. [1 ]
Merlin, J. -L. [2 ]
机构
[1] Inst Cancerol Lorraine, Dept Oncol Med, F-54519 Vandoeuvre Les Nancy, France
[2] Univ Lorraine, CNRS, UMR 7039, Serv Biopathol,Inst Cancerol Lorraine,CRAN, Nancy, France
关键词
ESR1; mutations; Endocrine resistance; Aromatase inhibitors; Circulating tumour DNA; METASTATIC BREAST-CANCER; CELL-FREE DNA;
D O I
10.3166/onco-2019-0027
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Acquired endocrine resistance remains one of the main obstacles in the treatment of estrogen receptor (ER) positive, HER2 negative advanced breast cancer. Recently, activating ESR1 gene mutations affecting the ligand-binding domain have been identified as a key mechanismin aromatase inhibitor (AI) resistance. These mutations can be detected on histological samples or circulating tumour DNA, using PCR-based assays or next-generation sequencing. They induce a constitutive activation of ER, leading to acquired resistance to AI; tamoxifen, fulvestrant and targeted therapies against mTOR or CDK4/6 retain their efficacy. The use of monitoring ESR1 mutations in clinical practice is still to be defined.
引用
收藏
页码:29 / 32
页数:4
相关论文
共 12 条
[1]  
Beatson G.T., 1896, LANCET, V2, P162
[2]   Prevalence of ESR1 Mutations in Cell-Free DNA and Outcomes in Metastatic Breast Cancer A Secondary Analysis of the BOLERO-2 Clinical Trial [J].
Chandarlapaty, Sarat ;
Chen, David ;
He, Wei ;
Sung, Patricia ;
Samoila, Aliaksandra ;
You, Daoqi ;
Bhatt, Trusha ;
Patel, Parul ;
Voi, Maurizio ;
Gnant, Michael ;
Hortobagyi, Gabriel ;
Baselga, Jose ;
Moynahan, Mary Ellen .
JAMA ONCOLOGY, 2016, 2 (10) :1310-1315
[3]   Kinetics, prognostic and predictive values of ESR1 circulating mutations in metastatic breast cancer patients progressing on aromatase inhibitor [J].
Clatot, Florian ;
Perdrix, Anne ;
Augusto, Laetitia ;
Beaussire, Ludivine ;
Delacour, Julien ;
Calbrix, Celine ;
Sefrioui, David ;
Viailly, Pierre-Julien ;
Bubenheim, Michael ;
Moldovan, Cristian ;
Alexandru, Cristina ;
Tennevet, Isabelle ;
Rigal, Olivier ;
Guillemet, Cecile ;
Leheurteur, Marianne ;
Gouerant, Sophie ;
Petrau, Camille ;
Thery, Jean-Christophe ;
Picquenot, Jean-Michel ;
Veyret, Corinne ;
Frebourg, Thierry ;
Jardin, Fabrice ;
Sarafan-Vasseur, Nasrin ;
Di Fiore, Frederic .
ONCOTARGET, 2016, 7 (46) :74448-74459
[4]   Plasma ESR1 Mutations and the Treatment of Estrogen Receptor-Positive Advanced Breast Cancer [J].
Fribbens, Charlotte ;
O'Leary, Ben ;
Kilburn, Lucy ;
Hrebien, Sarah ;
Garcia-Murillas, Isaac ;
Beaney, Matthew ;
Cristofanilli, Massimo ;
Andre, Fabrice ;
Loi, Sherene ;
Loibl, Sibylle ;
Jiang, John ;
Bartlett, Cynthia Huang ;
Koehler, Maria ;
Dowsett, Mitch ;
Bliss, Judith M. ;
Johnston, Stephen R. D. ;
Turner, Nicholas C. .
JOURNAL OF CLINICAL ONCOLOGY, 2016, 34 (25) :2961-2968
[5]   Circulating tumor cells and circulating tumor DNA for precision medicine: dream or reality? [J].
Ignatiadis, M. ;
Dawson, S. -J. .
ANNALS OF ONCOLOGY, 2014, 25 (12) :2304-2313
[6]   ESR1 mutations-a mechanism for acquired endocrine resistance in breast cancer [J].
Jeselsohn, Rinath ;
Buchwalter, Gilles ;
De Angelis, Carmine ;
Brown, Myles ;
Schiff, Rachel .
NATURE REVIEWS CLINICAL ONCOLOGY, 2015, 12 (10) :573-583
[7]   Highly sensitive detection of ESR1 mutations in cell-free DNA from patients with metastatic breast cancer using molecular barcode sequencing [J].
Masunaga, Nanae ;
Kagara, Naofumi ;
Motooka, Daisuke ;
Nakamura, Shota ;
Miyake, Tomohiro ;
Tanei, Tomonori ;
Naoi, Yasuto ;
Shimoda, Masafumi ;
Shimazu, Kenzo ;
Kim, Seung Jin ;
Noguchi, Shinzaburo .
BREAST CANCER RESEARCH AND TREATMENT, 2018, 167 (01) :49-58
[8]   The Genomic Landscape of Endocrine-Resistant Advanced Breast Cancers [J].
Razavi, Pedram ;
Chang, Matthew T. ;
Xu, Guotai ;
Bandlamudi, Chaitanya ;
Ross, Dara S. ;
Vasan, Neil ;
Cai, Yanyan ;
Bielski, Craig M. ;
Donoghue, Mark T. A. ;
Jonsson, Philip ;
Penson, Alexander ;
Shen, Ronglai ;
Pareja, Fresia ;
Kundra, Ritika ;
Middha, Sumit ;
Cheng, Michael L. ;
Zehir, Ahmet ;
Kandoth, Cyriac ;
Patel, Ruchi ;
Huberman, Kety ;
Smyth, Lillian M. ;
Jhaveri, Komal ;
Modi, Shanu ;
Traina, Tiffany A. ;
Dang, Chau ;
Zhang, Wen ;
Weigelt, Britta ;
Li, Bob T. ;
Ladanyi, Marc ;
Hyman, David M. ;
Schultz, Nikolaus ;
Robson, Mark E. ;
Hudis, Clifford ;
Brogi, Edi ;
Viale, Agnes ;
Norton, Larry ;
Dickler, Maura N. ;
Berger, Michael F. ;
Iacobuzio-Donahue, Christine A. ;
Chandarlapaty, Sarat ;
Scaltriti, Maurizio ;
Reis-Filho, Jorge S. ;
Solit, David B. ;
Taylor, Barry S. ;
Baselga, Jose .
CANCER CELL, 2018, 34 (03) :427-+
[9]  
Spoerke J, 2017, CANCER RES, V77
[10]   Heterogeneity and clinical significance of ESR1 mutations in ER-positive metastatic breast cancer patients receiving fulvestrant [J].
Spoerke, Jill M. ;
Gendreau, Steven ;
Walter, Kimberly ;
Qiu, Jiaheng ;
Wilson, Timothy R. ;
Savage, Heidi ;
Aimi, Junko ;
Derynck, Mika K. ;
Chen, Meng ;
Chan, Iris T. ;
Amler, Lukas C. ;
Hampton, Garret M. ;
Johnston, Stephen ;
Krop, Ian ;
Schmid, Peter ;
Lackner, Mark R. .
NATURE COMMUNICATIONS, 2016, 7