外科理论与实践

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2022 , Vol. 27 >Issue 05: 463 - 467

DOI: https://doi.org/10.16139/j.1007-9610.2022.05.016

综述

循环肿瘤DNA和循环肿瘤细胞检测乳腺癌微小残留病灶的研究

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  • 上海交通大学医学院附属瑞金医院外科 乳腺疾病诊治中心，上海 200025

收稿日期: 2022-08-24

  网络出版日期: 2022-11-10

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Study on circulating tumor DNA and circulating tumor cell detecting minimal residual disease in breast cancer

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  • Department of Surgery, Comprehensive Breast Health Center, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received date: 2022-08-24

  Online published: 2022-11-10

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摘要

乳腺癌是全球女性最常见的恶性肿瘤， 20%~30%的病人面临复发及转移的风险。微小残留病灶被认为是乳腺癌病程进展的重要因素之一，与不良预后有密切关系。目前微小残留病灶的检测主要依靠液体活检，包括循环肿瘤DNA及循环肿瘤细胞的检测。本文主要探讨乳腺癌微小残留病灶的检测方法，及其在预后评估、复发监测以及疗效评估中的应用。

关键词： 微小残留病灶; 乳腺癌; 液体活检; 循环肿瘤DNA; 循环肿瘤细胞

本文引用格式

潘睿忻 综述, 陈小松, 沈坤炜 审校 . 循环肿瘤DNA和循环肿瘤细胞检测乳腺癌微小残留病灶的研究[J]. 外科理论与实践, 2022 , 27(05) : 463 -467 . DOI: 10.16139/j.1007-9610.2022.05.016

Abstract

Breast cancer is the most commonly diagnosed female cancer in the world and 20%-30% patients faced the risk of recurrence and metastasis. Minimal residual disease(MRD) was believed as one of the important factors promo-ting disease progress in breast cancer and was closely associated with poor prognosis. Detection of MRD currently used liquid biopsy including detection of circulating tumor DNA and circulating tumor cell. The methods of detecting MRD in the evaluation of effect and prognosis and recurrence monitoring in breast cancer were explored in this review.

Key words： Minimal residual disease; Breast cancer; Liquid biopsy; Circulating tumor DNA; Circulating tumor cell

参考文献

[1] Sung H, Ferlay J, Siegel RL, et al. Global Cancer Statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries[J]. CA Cancer J Clin, 2021, 71(3):209-249.
[2] Pan H, Gray R, Braybrooke J, et al. 20-Year risks of breast-cancer recurrence after stopping endocrine therapy at 5 years[J]. N Engl J Med, 2017, 377(19):1836-1846.
[3] Luskin MR, Murakami MA, Manalis SR, et al. Targeting minimal residual disease: a path to cure?[J]. Nat Rev Cancer, 2018, 18(4):255-263.
[4] Alimirzaie S, Bagherzadeh M, Akbari MR. Liquid biopsy in breast cancer: a comprehensive review[J]. Clin Genet, 2019, 95(6):643-660.
[5] Wan JCM, Massie C, Garcia-Corbacho J, et al. Liquid biopsies come of age: towards implementation of circula-ting tumour DNA[J]. Nat Rev Cancer, 2017, 17(4):223-238.
[6] Heitzer E, Haque IS, Roberts CES, et al. Current and future perspectives of liquid biopsies in genomics-driven oncology[J]. Nat Rev Genet, 2019, 20(2):71-88.
[7] Coombes RC, Page K, Salari R, et al. Personalized detection of circulating tumor DNA antedates breast cancer metastatic recurrence[J]. Clin Cancer Res, 2019, 25(14):4255-4263.
[8] De Luca G, Dono M. The opportunities and challenges of molecular tagging next-generation sequencing in liquid biopsy[J]. Mol Diagn Ther, 2021, 25(5):537-547.
[9] Fackler MJ, Tulac S, Venkatesan N, et al. Development of an automated liquid biopsy assay for methylated mar-kers in advanced breast cancer[J]. Cancer Res Commun, 2022, 2(6):391-401.
[10] Olsson E, Winter C, George A, et al. Serial monitoring of circulating tumor DNA in patients with primary breast cancer for detection of occult metastatic disease[J]. EMBO Mol Med, 2015, 7(8):1034-1047.
[11] Lipsyc-Sharf M, de Bruin EC, Santos K, et al. Circulating tumor DNA and late recurrence in high-risk hormone receptor-positive, human epidermal growth factor receptor 2-negative breast cancer[J]. J Clin Oncol, 2022, 40(22):2408-2419.
[12] Magbanua MJM, Swigart LB, WU HT, et al. Circulating tumor DNA in neoadjuvant-treated breast cancer reflects response and survival[J]. Ann Oncol, 2021, 32(2):229-239.
[13] Jacobson A. Early switch to fulvestrant plus palbociclib improves outcomes in ESR1-mutated, estrogen receptor-positive metastatic breast cancer[J]. Oncologist, 2022, 27(Suppl 1):S9-S10.
[14] Tie J, Cohen JD, Lahouel K, et al. Circulating tumor DNA analysis guiding adjuvant therapy in stage Ⅱ colon cancer[J]. N Engl J Med, 2022, 386(24):2261-2272.
[15] Pantel K, Alix-Panabières C. Liquid biopsy and minimal residual disease — latest advances and implications for cure[J]. Nat Rev Clin Oncol, 2019, 16(7):409-424.
[16] 中华医学会检验医学分会, 国家卫生健康委员会临床检验中心. 液体活检在临床肿瘤诊疗应用和医学检验实践中的专家共识[J]. 中华检验医学杂志, 2018, 41(10):724-733.
[17] 中国抗癌协会肿瘤标志专业委员会. ctDNA高通量测序临床实践专家共识(2022年版)[J]. 中国癌症防治杂志, 2022, 14(3):240-252.
[18] Ettinger DS, Wood DE, Aisner DL, et al. Non-small cell lung cancer, version 3.2022, NCCN clinical practice guidelines in oncology[J]. J Natl Compr Canc Netw, 2022, 20(5):497-530.
[19] Henry NL, Somerfield MR, Dayao Z, et al. Biomarkers for systemic therapy in metastatic breast cancer: ASCO guideline update[J]. J Clin Oncol, 2022, 40(27):3205-3221.
[20] Bystricky B, Mego M. Circulating tumor cells in breast cancer patients[J]. Neoplasma, 2016, 63(1):18-29.
[21] Park HA, Brown SR, Kim Y. Cellular mechanisms of circulating tumor cells during breast cancer metastasis[J]. Int J Mol Sci, 2020, 21(14):5040.
[22] Yoo TK. Liquid biopsy in breast cancer: circulating tumor cells and circulating tumor DNA [M/OL]//Noh DY, Han W, Toi M. Translational Research in Breast Cancer. Singapore: Springer, 2021,337-361[2022-07-21]. https://doi.org/10.1007/978-981-32-9620-6_17.
[23] Ferreira MM, Ramani VC, Jeffrey SS. Circulating tumor cell technologies[J]. Mol Oncol, 2016, 10(3):374-394.
[24] Moding EJ, Nabet BY, Alizadeh AA, et al. Detecting li-quid remnants of solid tumors: circulating tumor DNA minimal residual disease[J]. Cancer Discov, 2021, 11(12): 2968-2986.
[25] Trapp E, Janni W, Schindlbeck C, et al. Presence of circulating tumor cells in high-risk early breast cancer during follow-up and prognosis[J]. J Natl Cancer Inst, 2019, 111(4):380-387.
[26] Radovich M, Jiang G, Hancock BA, et al. Association of circulating tumor DNA and circulating tumor cells after neoadjuvant chemotherapy with disease recurrence in patients with triple-negative breast cancer: preplanned secondary analysis of the BRE12-158 randomized clinical trial[J]. JAMA Oncology, 2020, 6(9):1410-1415.
[27] 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.
[28] Dawson SJ, Tsui DWY, Murtaza M, et al. Analysis of circulating tumor DNA to monitor metastatic breast cancer[J]. N Engl J Med, 2013, 368(13):1199-1209.
[29] 中国抗癌协会血液肿瘤专业委员会, 中华医学会血液学分会白血病淋巴瘤学组. 中国成人急性淋巴细胞白血病诊断与治疗指南(2021年版)[J]. 中华血液学杂志, 2021, 42(9):705-716.
[30] Xia L, Mei J, Kang R, et al. Perioperative ctDNA-based molecular residual disease detection for non-small cell lung cancer: a prospective multicenter cohort study (LUNGCA-1)[J]. Clin Cancer Res, 2022, 28(15):3308-3317.
[31] Pantel K, Alix-Panabières C. Tumour microenvironment: informing on minimal residual disease in solid tumours[J]. Nat Rev Clin Oncol, 2017, 14(6):325-326.
[32] Chen Z, Sun T, Yang Z, et al. Monitoring treatment efficacy and resistance in breast cancer patients via circula-ting tumor DNA genomic profiling[J]. Mol Genet Genomic Med, 2020, 8(2):e1079.
[33] Cescon DW, Kalinsky K, Parsons HA, et al. Therapeutic targeting of minimal residual disease to prevent late recurrence in hormone-receptor positive breast cancer: challenges and new approaches[J]. Front Oncol, 2021, 11:667397.
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