切换至 "中华医学电子期刊资源库"

中华乳腺病杂志(电子版) ›› 2023, Vol. 17 ›› Issue (01) : 40 -43. doi: 10.3877/cma.j.issn.1674-0807.2023.01.008

综述

ESR1基因突变在雌激素受体阳性转移性乳腺癌中的研究进展
巨淑慧1, 庞嘉越成1, 皮浩1, 蒋英杰1, 李恒宇1, 盛湲1,()   
  1. 1. 200433 上海,海军军医大学第一附属医院甲状腺乳腺外科
  • 收稿日期:2022-11-26 出版日期:2023-02-01
  • 通信作者: 盛湲

Role of ESR1 gene mutation in estrogen receptor-positive metastatic breast cancer

Shuhui Ju1, Jiayuecheng Pang1, Hao Pi1   

  • Received:2022-11-26 Published:2023-02-01
引用本文:

巨淑慧, 庞嘉越成, 皮浩, 蒋英杰, 李恒宇, 盛湲. ESR1基因突变在雌激素受体阳性转移性乳腺癌中的研究进展[J/OL]. 中华乳腺病杂志(电子版), 2023, 17(01): 40-43.

Shuhui Ju, Jiayuecheng Pang, Hao Pi. Role of ESR1 gene mutation in estrogen receptor-positive metastatic breast cancer[J/OL]. Chinese Journal of Breast Disease(Electronic Edition), 2023, 17(01): 40-43.

乳腺癌是全球女性发病率最高的恶性肿瘤。内分泌治疗应用以来,很大程度上改善了ER阳性乳腺癌患者的预后,但内分泌治疗耐药导致的疾病进展成为亟待解决的突出问题。雌激素受体α基因1(ESR1)突变是ER阳性乳腺癌内分泌治疗耐药的主要驱动因素之一。本文总结了ESR1突变的特点及其在内分泌治疗耐药中的可能机制,并对相关临床研究数据进行了分析及总结,为临床医师的内分泌治疗选择提供参考。

[1]
Sung H, Ferlay J, Siegel RL, et al. Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries.[J]. CA Cancer J Clin, 2021, 71(3): 209-249.
[2]
Samuel CA, Turner K, Donovan HAS, et al. Provider perspectives on barriers and facilitators to adjuvant endocrine therapy-related symptom management[J]. Support Care Cancer, 2017, 25(12): 3723-3731.
[3]
Hanker AB, Sudhan DR, Arteaga CL. Overcoming endocrine resistance in breast cancer[J]. Cancer Cell, 2020, 37(4): 496-513.
[4]
Jeselsohn R, Buchwalter G, De Angelis C, et al. ESR1 mutations—a mechanism for acquired endocrine resistance in breast cancer[J]. Nat Rev Clin Oncol, 2015, 12(10): 573-583.
[5]
Razavi P, Chang MT, Xu G, et al. The genomic landscape of endocrine-resistant advanced breast cancers. [J]. Cancer Cell, 2018, 34(3): 427-438.
[6]
Schiavon G, Hrebien S, Garcia-Murillas I, et al. Analysis of ESR1 mutation in circulating tumor DNA demonstrates evolution during therapy for metastatic breast cancer[J]. Sci Transl Med, 2015, 7(313): 313ra182.
[7]
Fribbens C, Garcia Murillas I, Beaney M, et al. Tracking evolution of aromatase inhibitor resistance with circulating tumour DNA analysis in metastatic breast cancer[J]. Ann Oncol, 2018, 29(1): 145-153.
[8]
Clatot F, Perdrix A, Beaussire L, et al. Risk of early progression according to circulating ESR1 mutation, CA-15.3 and cfDNA increases under first-line anti-aromatase treatment in metastatic breast cancer[J]. Breast Cancer Res, 2020, 22(1): 56.
[9]
Zhang QX, Borg A, Wolf DM, et al. An estrogen receptor mutant with strong hormone-independent activity from a metastatic breast cancer[J]. Cancer Res, 1997, 57(7): 1244-1249.
[10]
Robinson DR, Wu YM, Vats P, et al. Activating ESR1 mutations in hormone-resistant metastatic breast cancer[J]. Nat Genet, 2013, 45(12): 1446-1451.
[11]
Toy W, Shen Y, Won H, et al. ESR1 ligand-binding domain mutations in hormone-resistant breast cancer[J]. Nat Genet, 2013, 45(12): 1439-1445.
[12]
Jeselsohn R, Yelensky R, Buchwalter G, et al. Emergence of constitutively active estrogen receptor-α mutations in pretreated advanced estrogen receptor-positive breast cancer[J]. Clin Cancer Res, 2014, 20(7): 1757-1767.
[13]
Toy W, Weir H, Razavi P, et al. Activating ESR1 mutations differentially affect the efficacy of ER antagonists[J]. Cancer Discov, 2017, 7(3): 277-287.
[14]
Hermida-Prado F, Jeselsohn R. The ESR1 mutations: from bedside to bench to bedside[J]. Cancer Res, 2021, 81(3): 537-538.
[15]
Li S, Shen D, Shao J, et al. Endocrine-therapy-resistant ESR1 variants revealed by genomic characterization of breast-cancer-derived xenografts[J]. Cell Rep, 2013, 4(6): 1116-1130.
[16]
Fribbens C, O’Leary B, Kilburn L, et al. Plasma ESR1 mutations and the treatment of estrogen receptor-positive advanced breast cancer[J]. J Clin Oncol, 2016, 34(25): 2961-2968.
[17]
Kuang Y, Siddiqui B, Hu J, et al. Unraveling the clinicopathological features driving the emergence of ESR1 mutations in metastatic breast cancer[J]. NPJ Breast Cancer, 2018, 4: 22.
[18]
Gates LA, Gu G, Chen Y, et al. Proteomic profiling identifies key coactivators utilized by mutant ERα proteins as potential new therapeutic targets[J]. Oncogene, 2018, 37(33): 4581-4598.
[19]
Turner NC, Swift C, Kilburn L, et al. ESR1 mutations and overall survival on fulvestrant versus exemestane in advanced hormone receptor-positive breast cancer: A combined analysis of the phase Ⅲ SoFEA and EFECT trials[J]. Clin Cancer Res, 2020, 26(19): 5172-5177.
[20]
Jeselsohn R, De Angelis C, Brown M, et al. The evolving role of the estrogen receptor mutations in endocrine therapy-resistant breast cancer[J]. Curr Oncol Rep, 2017, 19(5): 35.
[21]
Najim O, Seghers S, Sergoynne L, et al. The association between type of endocrine therapy and development of estrogen receptor-1 mutation(s) in patients with hormone-sensitive advanced breast cancer: A systematic review and meta-analysis of randomized and non-randomized trials[J]. Biochim Biophys Acta Rev Cancer, 2019, 1872(2): 188 315.
[22]
De Santo I, McCartney A, Migliaccio I, et al. The emerging role of ESR1 mutations in luminal breast cancer as a prognostic and predictive biomarker of response to endocrine therapy[J]. Cancers (Basel), 2019, 11(12):1849.
[23]
O’Leary B, Cutts RJ, Liu Y, et al. The genetic landscape and clonal evolution of breast cancer resistance to palbociclib plus fulvestrant in the PALOMA-3 trial[J]. Cancer Discov, 2018, 8(11): 1390-1403.
[24]
Chandarlapaty S, Chen D, He W, et al. Prevalence of ESR1 mutations in cell-free DNA and outcomes in metastatic breast cancer: A secondary analysis of the BOLERO-2 clinical trial[J]. JAMA Oncol, 2016, 2(10): 1310-1315.
[25]
Nettles KW, Bruning JB, Gil G, et al. NFkappaB selectivity of estrogen receptor ligands revealed by comparative crystallographic analyses[J]. Nat Chem Biol, 2008, 4(4): 241-247.
[26]
Gu G, Tian L, Herzog SK, et al. Hormonal modulation of ESR1 mutant metastasis[J]. Oncogene, 2021, 40(5): 997-1011.
[27]
Lefebvre C, Bachelot T, Filleron T, et al. Mutational profile of metastatic breast cancers: A retrospective analysis[J]. PLoS Med, 2016, 13(12): e1002201.
[28]
Clatot F, Perdrix A, Augusto L, et al. Kinetics, prognostic and predictive values of ESR1 circulating mutations in metastatic breast cancer patients progressing on aromatase inhibitor[J]. Oncotarget, 2016, 7(46): 74448-74459.
[29]
Puyang X, Furman C, Zheng GZ, et al. Discovery of selective estrogen receptor covalent antagonists for the treatment of ERα(WT) and ERα(MUT) breast cancer[J]. Cancer Discov, 2018, 8(9): 1176-1193.
[30]
Bahreini A, Li Z, Wang P, et al. Mutation site and context dependent effects of ESR1 mutation in genome-edited breast cancer cell models[J]. Breast Cancer Res, 2017, 19(1): 60.
[31]
Wardell SE, Ellis MJ, Alley HM, et al. Efficacy of SERD/SERM hybrid-CDK4/6 inhibitor combinations in models of endocrine therapy-resistant breast cancer[J]. Clin Cancer Res, 2015, 21(22): 5121-5130.
[32]
Turner NC, Kingston B, Kilburn LS, et al. Circulating tumour DNA analysis to direct therapy in advanced breast cancer (plasmaMATCH): a multicentre, multicohort, phase 2a, platform trial[J]. Lancet Oncol, 2020, 21(10): 1296-1308.
[33]
Bidard FC, Kaklamani VG, Neven P, et al. Elacestrant (oral selective estrogen receptor degrader) versus standard endocrine therapy for estrogen receptor-positive, human epidermal growth factor receptor 2-negative advanced breast cancer: results from the randomized phase Ⅲ EMERALD trial[J]. J Clin Oncol, 2022, 40(28): 3246-3256.
[34]
Jimenez MM, Lim E, Gregor MC, et al. Giredestrant (GDC-9545) vs physician choice of endocrine monotherapy (PCET) in patients (pts) with ER+,HER2- locally advanced/metastatic breast cancer (LA/mBC): primary analysis of the phase 2, randomised, open-label acelERA BC study [EB/OL]. [2022-11-25].

URL    
[35]
Tolaney SM, Chan A, Petrakova K, et al. AMEERA-3, a phase 2 study of amcenestrant (AMC) versus endocrine treatment of physician’s choice (TPC) in patients (pts) with endocrine-resistant ER+/HER2-advanced breast cancer (aBC) [EB/OL]. [2022-11-25].

URL    
[36]
Goetz MP, Plourde P, Stover DG, et al. Open-label, randomized study of lasofoxifene (LAS) vs fulvestrant (Fulv) for women with locally advanced/metastatic ER+/HER2- breast cancer (mBC), an estrogen receptor 1 (ESR1) mutation, and disease progression on aromatase (AI) and cyclin-dependent kinase 4/6 (CDK4/6i) inhibitors [EB/OL]. [2022-11-25].

URL    
[37]
Damodaran S, Plourde PV, Moore HCF, et al. Open-label, phase 2, multicenter study of lasofoxifene (LAS) combined with abemaciclib (Abema) for treating pre- and postmenopausal women with locally advanced or metastatic ER+/HER2-breast cancer and an ESR1 mutation after progression on prior therapies[J]. J Clin Oncol, 2022, 40(16_suppl): 1022-1022.
[38]
Furman C, Puyang X, Zhang Z, et al. Covalent ERα antagonist H3B-6545 demonstrates encouraging preclinical activity in therapy-resistant breast cancer[J]. Mol Cancer Ther, 2022, 21(6): 890-902.
[39]
Narasimha AM, Kaulich M, Shapiro GS, et al. Cyclin D activates the Rb tumor suppressor by mono-phosphorylation[J]. Elife, 2014, 3: e02872.
[40]
Wander SA, Cohen O, Gong X, et al. The genomic landscape of intrinsic and acquired resistance to cyclin-dependent kinase 4/6 inhibitors in patients with hormone receptor-positive metastatic breast cancer[J]. Cancer Discov, 2020, 10(8): 1174-1193.
[41]
Bidard FC, Hardy-Bessard AC, Dalenc F, et al. Switch to fulvestrant and palbociclib versus no switch in advanced breast cancer with rising ESR1 mutation during aromatase inhibitor and palbociclib therapy (PADA-1): a randomised, open-label, multicentre, phase 3 trial[J]. Lancet Oncol, 2022, 23(11): 1367-1377.
[42]
Tolaney SM, Toi M, Neven P, et al. Clinical significance of PIK3CA and ESR1 mutations in circulating tumor DNA: Analysis from the MONARCH 2 study of abemaciclib plus fulvestrant[J]. Clin Cancer Res, 2022, 28(8): 1500-1506.
[43]
Moore HM, Savage HM, O’Brien C, et al. Predictive and pharmacodynamic biomarkers of response to the phosphatidylinositol 3-kinase inhibitor taselisib in breast cancer preclinical models[J]. Mol Cancer Ther, 2020, 19(1): 292-303.
[44]
Razavi P, Dickler MN, Shah PD, et al. Alterations in PTEN and ESR1 promote clinical resistance to alpelisib plus aromatase inhibitors[J]. Nat Cancer, 2020, 1(4): 382-393.
[45]
Bardia A, Hurvitz SA, Demichele A, et al. Phase Ⅰ/Ⅱ trial of exemestane, ribociclib, and everolimus in women with HR(+)/HER2(-) advanced breast cancer after progression on CDK4/6 inhibitors (TRINITI-1)[J]. Clin Cancer Res, 2021, 27(15): 4177-4185.
[46]
Ladd B, Mazzola AM, Bihani T, et al. Effective combination therapies in preclinical endocrine resistant breast cancer models harboring ER mutations[J]. Oncotarget, 2016, 7(34): 54 120-54 136.
[1] 河北省抗癌协会乳腺癌专业委员会护理协作组. 乳腺癌中心静脉通路护理管理专家共识[J/OL]. 中华乳腺病杂志(电子版), 2024, 18(06): 321-329.
[2] 刘晨鹭, 刘洁, 张帆, 严彩英, 陈倩, 陈双庆. 增强MRI 影像组学特征生境分析在预测乳腺癌HER-2 表达状态中的应用[J/OL]. 中华乳腺病杂志(电子版), 2024, 18(06): 339-345.
[3] 张晓宇, 殷雨来, 张银旭. 阿帕替尼联合新辅助化疗对三阴性乳腺癌的疗效及预后分析[J/OL]. 中华乳腺病杂志(电子版), 2024, 18(06): 346-352.
[4] 邱琳, 刘锦辉, 组木热提·吐尔洪, 马悦心, 冷晓玲. 超声影像组学对致密型乳腺背景中非肿块型乳腺癌的诊断价值[J/OL]. 中华乳腺病杂志(电子版), 2024, 18(06): 353-360.
[5] 程燕妮, 樊菁, 肖瑶, 舒瑞, 明昊, 党晓智, 宋宏萍. 乳腺组织定位标记夹的应用与进展[J/OL]. 中华乳腺病杂志(电子版), 2024, 18(06): 361-365.
[6] 涂盛楠, 胡芬, 张娟, 蔡海峰, 杨俊泉. 天然植物提取物在乳腺癌治疗中的应用[J/OL]. 中华乳腺病杂志(电子版), 2024, 18(06): 366-370.
[7] 朱文婷, 顾鹏, 孙星. 非酒精性脂肪性肝病对乳腺癌发生发展及治疗的影响[J/OL]. 中华乳腺病杂志(电子版), 2024, 18(06): 371-375.
[8] 严华悦, 刘子祥, 周少波. 磷酸烯醇式丙酮酸羧激酶-1在恶性肿瘤中的研究进展[J/OL]. 中华普通外科学文献(电子版), 2024, 18(06): 452-456.
[9] 高杰红, 黎平平, 齐婧, 代引海. ETFA和CD34在乳腺癌中的表达及与临床病理参数和预后的关系研究[J/OL]. 中华普外科手术学杂志(电子版), 2025, 19(01): 64-67.
[10] 韩萌萌, 冯雪园, 马宁. 乳腺癌改良根治术后桡神经损伤1例[J/OL]. 中华普外科手术学杂志(电子版), 2025, 19(01): 117-118.
[11] 张志兆, 王睿, 郜苹苹, 王成方, 王成, 齐晓伟. DNMT3B与乳腺癌预后的关系及其生物学机制[J/OL]. 中华普外科手术学杂志(电子版), 2024, 18(06): 624-629.
[12] 王玲艳, 高春晖, 冯雪园, 崔鑫淼, 刘欢, 赵文明, 张金库. 循环肿瘤细胞在乳腺癌新辅助及术后辅助治疗中的应用[J/OL]. 中华普外科手术学杂志(电子版), 2024, 18(06): 630-633.
[13] 赵林娟, 吕婕, 王文胜, 马德茂, 侯涛. 超声引导下染色剂标记切缘的梭柱型和圆柱型保乳区段切除术的效果研究[J/OL]. 中华普外科手术学杂志(电子版), 2024, 18(06): 634-637.
[14] 刘文竹, 唐窈, 刘付臣. 诱导多潜能干细胞在神经肌肉疾病研究中的应用进展[J/OL]. 中华细胞与干细胞杂志(电子版), 2024, 14(06): 367-373.
[15] 吴天宇, 刘子璇, 杨浦鑫, 贾思明, 丁凯, 程晓东, 李泳龙, 陈伟, 吕红芝, 张奇. 腰椎间盘突出症保守治疗进展[J/OL]. 中华老年骨科与康复电子杂志, 2024, 10(06): 379-384.
阅读次数
全文


摘要


AI


AI小编
你好!我是《中华医学电子期刊资源库》AI小编,有什么可以帮您的吗?