[1]梁 佐,仝志强,岳振华,等.ctDNA 检测在非小细胞肺癌临床诊疗应用中的最新研究进展[J].现代检验医学杂志,2024,39(02):192-197.[doi:10.3969/j.issn.1671-7414.2024.02.035]
 LIANG Zuo,TONG Zhiqiang,YUE Zhenhua,et al.Latest Research Progress in ctDNA Detection for Clinical Diagnosis and Treatment of Non-Small Cell Lung Cancer[J].Journal of Modern Laboratory Medicine,2024,39(02):192-197.[doi:10.3969/j.issn.1671-7414.2024.02.035]
点击复制

ctDNA 检测在非小细胞肺癌临床诊疗应用中的最新研究进展()
分享到:

《现代检验医学杂志》[ISSN:/CN:]

卷:
第39卷
期数:
2024年02期
页码:
192-197
栏目:
综述
出版日期:
2024-03-15

文章信息/Info

Title:
Latest Research Progress in ctDNA Detection for Clinical Diagnosis and Treatment of Non-Small Cell Lung Cancer
文章编号:
1671-7414(2024)02-192-06
作者:
梁 佐1仝志强2岳振华1白晓鸣2
(1. 山西医科大学第五临床医学院,太原 030012;2. 山西省人民医院,太原 030012)
Author(s):
LIANG Zuo1 TONG Zhiqiang2 YUE Zhenhua1 BAI Xiaoming2
(1.the Fifth Clinical Medical College of Shanxi Medical University, Taiyuan 030012, China;2.Shanxi Provincial People’s Hospital, Taiyuan 030012,China)
关键词:
非小细胞肺癌液态活检循环肿瘤DNA
分类号:
R734.2;R730.43
DOI:
10.3969/j.issn.1671-7414.2024.02.035
文献标志码:
A
摘要:
非小细胞肺癌(non-small cell lung cancer,NSCLC)是一种高度致死性的恶性肿瘤,给人类健康带来严重威胁。传统的肿瘤诊疗方法存在许多局限性,而液体活检技术中的循环肿瘤DNA(circulating tumor DNA,ctDNA)检测由于其无创便捷、全面灵敏的特点,在NSCLC 的个体化治疗和监测中引起了广泛关注。该文将综述近年来ctDNA 检测在NSCLC 临床诊疗应用中的最新研究进展,包括其在早期筛查、疾病诊断、肿瘤突变监测、治疗效果评估以及预后评估等方面的应用。
Abstract:
Non-small cell lung cancer (NSCLC) is a highly lethal malignant tumor that poses a serious threat to human health. Traditional methods for tumor diagnosis and treatment have many limitations. However, circulating tumor DNA (ctDNA) detection, a kind of liquid biopsy technology, has gained widespread attention in the field of NSCLC personalized therapy and monitoring due to its non-invasive, convenient, and comprehensive sensitivity. This article will review the latest research progress of ctDNA detection in the clinical diagnosis and treatment of NSCLC in recent years, including its applications in early screening, disease diagnosis, tumor mutation monitoring, treatment efficacy evaluation, and prognosis assessment.

参考文献/References:

[1] SUNG H, FERLAY J, SIEGEL R L, et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries[J]. CA-A Cancer Journal for Clinicians,2021, 71(3): 209-249.
[2] CAO Wei, CHEN Hongda, YU Yiwen, et al. Changing profiles of cancer burden worldwide and in China:a secondary analysis of the global cancer statistics 2020[J]. Chinese Medical Journal, 2021, 134(7): 783-791.
[3] ZHANG Siwei, SUN Kexin, ZHENG Rongshou, et al. Cancer incidence and mortality in China, 2015[J].Journal of the National Cancer Center, 2021, 1(1): 2-11.
[4] GAO Shugeng, LI Ning, WANG Shuhang, et al. Lung cancer in people’s republic of China[J]. Journal of Thoracic Oncology, 2020, 15(10): 1567-1576.
[5] AGARWAL M, BRAHMANDAY G, CHMIELEWSKI G W, et al. Age, tumor size, type of surgery, and gender predict survival in early stage (stage I and II) non-small cell lung cancer after surgical resection[J]. Lung Cancer (Amsterdam, Netherlands), 2010, 68(3): 398-402.
[6] FIELD J K, DUFFY S W, BALDWIN D R, et al. The UK lung cancer screening trial: a pilot randomised controlled trial of low-dose computed tomography screening for the early detection of lung cancer[J].Health Technology Assessment (Winchester, England),2016, 20(40): 1-146.
[7] PANTEL K, ALIX-PANABI?RES C. Tumour microenvironment: informing on minimal residual disease in solid tumours[J]. Nature Reviews Clinical Oncology, 2017, 14(6): 325-326.
[8] NEWMAN A M, BRATMAN S V, TO J, et al. An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage[J]. Nature Medicine,2014, 20(5): 548-554.
[9] LI Zhongbin, CHEN Dandan, HE Qingjuan, et al. The LAC score indicates significant fibrosis in patients with chronic drug-induced liver injury: a large biopsy-based study[J]. Frontiers in Pharmacology, 2021, 12: 734090.
[10] CHAE Y K, OH M S. Detection of minimal residual disease using ctDNA in lung cancer: current evidence and future directions[J]. Journal of Thoracic Oncology,2019, 14(1): 16-24.
[11] KOJABAD A A, FARZANEHPOUR M, GALEH H E G, et al. Droplet digital PCR of viral DNA/RNA,current progress, challenges, and future perspectives[J].Journal of Medical Virology, 2021, 93(7): 4182-4197.
[12] PALAC?N-ALIANA I, GARC?A-ROMERO N,ASENSI-PUIG A, et al. Clinical utility of liquid biopsybased actionable mutations detected via ddPCR[J].Biomedicines, 2021, 9(8): 906.
[13] NIKANJAM M, KATO S, KURZROCK R. Liquid biopsy: current technology and clinical applications[J].Journal of Hematology & Oncology, 2022, 15(1): 131.
[14] FORSHEW T, MURTAZA M, PARKINSON C, et al. Noninvasive identification and monitoring of cancer mutations by targeted deep sequencing of plasma DNA[J]. Science Translational Medicine, 2012, 4(136):136ra68.
[15] ZHAO Yongmei, FANG Litai, SHEN T W, et al. Whole genome and exome sequencing reference datasets from a multi-center and cross-platform benchmark study[J].Scientific Data, 2021, 8(1): 296.
[16] XIAO Wenming, REN Luyao, CHEN Zhong, et al. Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing[J]. Nature Biotechnology, 2021, 39(9): 1141-1150.
[17] WARDENAAR R, LIU Haiyin, COLOT V, et al. Evaluation of MeDIP-chip in the context of wholegenome bisulfite sequencing (WGBS-seq) in Arabidopsis[J]. Methods in Molecular Biology (Clifton,N.J.), 2013, 1067: 203-224.
[18] HON G C, HAWKINS R D, CABALLERO O L, et al. Global DNA hypomethylation coupled to repressive chromatin domain formation and gene silencing in breast cancer[J]. Genome Research, 2012, 22(2): 246-258.
[19] KLEIN-SCORY S, WAHNER I, MASLOVA M, et al. Evolution of RAS mutational status in liquid biopsies during first-line chemotherapy for metastatic colorectal cancer[J]. Frontiers in Oncology, 2020, 10: 1115.
[20] SCHMIEGEL W, SCOTT R J, DOOLEY S, et al. Blood-based detection of RAS mutations to guide anti-EGFR therapy in colorectal cancer patients:concordance of results from circulating tumor DNA and tissue-based RAS testing[J]. Molecular Oncology,2017, 11(2): 208-219.
[21] HINDSON B J, NESS K D, MASQUELIER D A,et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number[J].Analytical Chemistry, 2011, 83(22): 8604-8610.
[22] DE KOCK R, KNOOPS C, BASELMANS M, et al. Sensitive cell-free tumor DNA analysis in supernatant pleural effusions supports therapy selection and disease monitoring of lung cancer patients[J]. Cancer Treatment and Research Communications, 2021, 29: 100449.
[23] GLASS J P, MELAMED M, CHERNIK N L, et al. Malignant cells in cerebrospinal fluid (CSF): the meaning of a positive CSF cytology[J]. Neurology,1979, 29(10): 1369-1375.
[24] LI M, HOU X, ZHENG L, et al. Utilizing phenotypic characteristics of metastatic brain tumors to improve the probability of detecting circulating tumor DNA from cerebrospinal fluid in non-small-cell lung cancer patients: development and validation of a prediction model in a prospective cohort study[J]. ESMO Open,2022, 7(1): 100305.
[25] AL BAKIR M, HUEBNER A, MART?NEZ-RUIZ C, et al. The evolution of non-small cell lung cancer metastases in TRACERx[J]. Nature, 2023, 616(7957):534-542.
[26] BROWN D, SMEETS D, SZ?KELY B, et al. Phylogenetic analysis of metastatic progression in breast cancer using somatic mutations and copy number aberrations[J]. Nature Communications, 2017, 8:14944.
[27] FALTAS B M, PRANDI D, TAGAWA S T, et al. Clonal evolution of chemotherapy-resistant urothelial carcinoma[J]. Nature Genetics, 2016, 48(12): 1490-1499.
[28] HU Zheng, DING Jie, MA Zhicheng, et al. Quantitative evidence for early metastatic seeding in colorectal cancer[J]. Nature Genetics, 2019, 51(7): 1113-1122.
[29] ABBOSH C, FRANKELL A M, HARRISON T, et al. Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA[J]. Nature, 2023, 616(7957):553-562.
[30] KALLERGI G, KONTOPODIS E, NTZIFA A, et al. Effect of osimertinib on CTCs and ctDNA in EGFR mutant non-small cell lung cancer patients: the prognostic relevance of liquid biopsy[J]. Cancers, 2022,14(6): 1574.
[31] ZHENG Jie, WANG Yubo, HU Chen, et al. Predictive value of early kinetics of ctDNA combined with cfDNA and serum CEA for EGFR-TKI treatment in advanced non-small cell lung cancer[J]. Thoracic Cancer, 2022,13(22): 3162-3173.
[32] MOISEYENKO F V, KULIGINA E S, ZHABINA A S,et al. Changes in the concentration of EGFR-mutated plasma DNA in the first hours of targeted therapy allow the prediction of tumor response in patients with EGFR-driven lung cancer[J]. International Journal of Clinical Oncology, 2022, 27(5): 850-862.
[33] CHABON J J, HAMILTON E G, KURTZ D M, et al. Integrating genomic features for non-invasive early lung cancer detection[J]. Nature, 2020, 580(7802): 245-251.
[34] ABBOSH C, BIRKBAK N J, WILSON G A, et al. Phylogenetic ctDNA analysis depicts early-stage lung cancer evolution[J]. Nature, 2017, 545(7655): 446-451.
[35] GUO Kai, SHAO Changjian, HAN Lu, et al. Detection of epidermal growth factor receptor (EGFR) mutations from preoperative circulating tumor DNA (ctDNA) as a prognostic predictor for stage I-III non-small cell lung cancer (NSCLC) patients with baseline tissue EGFR mutations[J]. Translational Lung Cancer Research,2021, 10(7): 3213-3225.
[36] KARASAKI T, MOORE D A, VEERIAH S, et al. Evolutionary characterization of lung adenocarcinoma morphology in TRACERx[J]. Nature Medicine, 2023,29(4): 833-845.
[37] REKHTMAN N, MONTECALVO J,CHANG J C, et al. SMARCA4-deficient thoracic sarcomatoid tumors represent primarily smoking-related undifferentiated carcinomas rather than primary thoracic sarcomas[J].Journal of Thoracic Oncology, 2020, 15(2): 231-247.
[38] SCHOENFELD A J, BANDLAMUDI C, LAVERY J A,et al. The genomic landscape of SMARCA4 alterations and associations with outcomes in patients with lung cancer[J]. Clinical Cancer Research, 2020, 26(21):5701-5708.
[39] CONCEPCION C P, MA Sai, LAFAVE L M, et al. Smarca4 inactivation promotes lineage-specific transformation and early metastatic features in the lung[J]. Cancer Discovery, 2022, 12(2): 562-585.
[40] KADOTA K, SUZUKI K, KACHALA S S, et al. A grading system combining architectural features and mitotic count predicts recurrence in stage I lung adenocarcinoma[J]. Modern Pathology, 2012, 25(8):1117-1127.
[41] MOORE D A, SERENO M, DAS M, et al. In situ growth in early lung adenocarcinoma may represent precursor growth or invasive clone outgrowth-a clinically relevant distinction[J]. Modern Pathology,2019, 32(8): 1095-1105.
[42] TERADA Y, TAKAHASHI T, MORITA S, et al. Spread through air spaces is an Independent predictor of recurrence in stage III (N2) lung adenocarcinoma[J].Interactive Cardiovascular and Thoracic Surgery, 2019,29(3): 442-448.

相似文献/References:

[1]张 蕾,任亚女,曾婷婷,等.晚期非小细胞肺癌患者血液实验指标和病理分期等因素对生存时间的影响分析[J].现代检验医学杂志,2016,31(02):83.[doi:10.3969/j.issn.1671-7414.2016.02.025]
 ZHANG Lei,REN Ya-n,ZENG Ting-ting,et al.Analysis of Prognosis Related Factors in Patients with Advanced Non-Small Cell Lung Cancer[J].Journal of Modern Laboratory Medicine,2016,31(02):83.[doi:10.3969/j.issn.1671-7414.2016.02.025]
[2]薛鸿涛,任 敏,李长彬.非小细胞肺癌患者放疗前后血清TSGF和CRP的变化及其临床意义[J].现代检验医学杂志,2016,31(02):136.[doi:10.3969/j.issn.1671-7414.2016.02.041]
 XUE Hong-tao,REN Min,LI Chang-bin.Impact and Clinical Significance of Radiotherapy on Serum TSGF and CRP in Patients with Non Small Cell Lung Cancer[J].Journal of Modern Laboratory Medicine,2016,31(02):136.[doi:10.3969/j.issn.1671-7414.2016.02.041]
[3]王京伟,李 艳,童永清,等.湖北地区非小细胞肺癌EGFR 基因突变及其意义的研究[J].现代检验医学杂志,2016,31(03):7.[doi:10.3969/j.issn.1671-7414.2016.03.003]
 WANG Jing-wei,LI Yan,TONG Yong-qing,et al.Detection of Epidermal Growth Factor Receptor(EGFR) Mutations and the Significance in Patients with Non-small Cell Lung Cancer(NSCLC)of Hubei Province[J].Journal of Modern Laboratory Medicine,2016,31(02):7.[doi:10.3969/j.issn.1671-7414.2016.03.003]
[4]易甲其,范艳平,周宁加,等.血清PTX-3,CYFRA21-1和TPS在非小细胞肺癌中的变化及临床意义[J].现代检验医学杂志,2015,30(05):58.[doi:10.3969/j.issn.1671-7414.2015.05.018]
 YI Jia-qi,FAN Yan-ping,ZHOU Ning-jia,et al.Changes and Clinical Significance of Serum PTX-3, CYFRA21-1,TPS in Non-Small Cell Lung Cancer[J].Journal of Modern Laboratory Medicine,2015,30(02):58.[doi:10.3969/j.issn.1671-7414.2015.05.018]
[5]钱忠萍,凌 晨,祁松楠,等.围非小细胞肺癌手术期T细胞含量变化的研究[J].现代检验医学杂志,2016,31(05):55.[doi:10.3969/j.issn.1671-7414.2016.05.014]
 QIAN Zhong-ping,LING Chen,QI Song-nan,et al.Content Variation of T Cells in Perioperative Patients with Non-Small Cell Lung Cancer[J].Journal of Modern Laboratory Medicine,2016,31(02):55.[doi:10.3969/j.issn.1671-7414.2016.05.014]
[6]黎谢梦丹,罗 凯,吴顺芳,等.华南地区非小细胞肺癌患者肿瘤组织EGFR,ALK和ROS1基因突变分析[J].现代检验医学杂志,2017,32(05):16.[doi:10.3969/j.issn.1671-7414.2017.05.005]
 LIXIE Meng-dan,LUO Kai,WU Shun-fang,et al.Mutation Analysis of EGFR,ALK and ROS1 in Tumor Tissues of Patients with Non-Small Cell Lung Cancer in South of China[J].Journal of Modern Laboratory Medicine,2017,32(02):16.[doi:10.3969/j.issn.1671-7414.2017.05.005]
[7]李小龙,白巧艳,陆婉玲.老年非小细胞肺癌患者低分割放疗对凝血功能的影响[J].现代检验医学杂志,2018,33(05):142.[doi:10.3969/j.issn.1671-7414.2018.05.039]
 LI Xiao-long,BAI Qiao-yan,LU Wan-ling.Influence of Hypofractionated High-Dose Radiotherapy on Coagulation Function in Elderly Patients with Non-Small Cell Lung Cancer[J].Journal of Modern Laboratory Medicine,2018,33(02):142.[doi:10.3969/j.issn.1671-7414.2018.05.039]
[8]郭 华a,齐宗利a,张海祥b,等.非小细胞肺癌组织EGFR/ALK/ROS1基因联合检测的临床意义[J].现代检验医学杂志,2018,33(06):17.[doi:10.3969/j.issn.1671-7414.2018.06.005]
 GUO Huaa,QI Zong-lia,ZHANG Hai-xiangb,et al.Clinical Significance of Combined Detection of EGFR/ALK/ROS1 Genes in Non-Small Cell Lung Cancer[J].Journal of Modern Laboratory Medicine,2018,33(02):17.[doi:10.3969/j.issn.1671-7414.2018.06.005]
[9]黄 刚,陈 霏,肇玉博,等.非小细胞肺癌患者血浆miRNA-145和miRNA-221表达与临床特征及术后复发的相关性研究[J].现代检验医学杂志,2019,34(04):40.[doi:10.3969/j.issn.1671-7414.2019.04.010]
 HUANG Gang,CHEN Fei,ZHAO Yu-bo,et al.Study on the Correlation between the Expression of MicroRNA145 and MicroRNA221 in Plasma and Clinical Characteristics and Postoperative Recurrence in Patients with Non-Small Cell Lung Cancer[J].Journal of Modern Laboratory Medicine,2019,34(02):40.[doi:10.3969/j.issn.1671-7414.2019.04.010]
[10]蒋玲丽,黄中强,王雪亮,等.表皮生长因子受体(EGFR)基因突变检测质控品制备及应用[J].现代检验医学杂志,2020,35(02):145.[doi:10.3969/j.issn.1671-7414.2020.02.040]
 JIANG Ling-li,HUANG Zhong-qiang,WANG Xue-liang,et al.Development and Application of Quality Control Materials for EpidermalGrowth Factor Receptor (EGFR)Mutation Determination[J].Journal of Modern Laboratory Medicine,2020,35(02):145.[doi:10.3969/j.issn.1671-7414.2020.02.040]

备注/Memo

备注/Memo:
作者简介:梁佐(1998-),男,硕士研究生在读,研究方向:胸心外科临床与基础研究,E-mail:13803437795@163.com。
通讯作者: 白晓鸣(1964-),男,硕士研究生,主任医师,研究方向:胸外科肺癌,食管癌及纵隔疾病诊治,E-mail: 13803437795@163.com。
更新日期/Last Update: 2024-03-15