[1] LOPEZ-BELTRAN A,COOKSON MS,GUERCIO BJ,et al.Advances in diagnosis and treatment of bladder cancer[J].BMJ,2024,384:e076743.
[2] VAN HOOGSTRATEN LMC,VRIELING A,VAN DER HEIJDEN AG,et al.Global trends in the epidemiology of bladder cancer:challenges for public health and clinical practice[J].Nat Rev Clin Oncol,2023,20(5):287-304.
[3] ZHAO J,LI J,ZHANG R.Off the fog to find the optimal choice:Research advances in biomarkers for early diagnosis and recurrence monitoring of bladder cancer[J].Biochim Biophys Acta Rev Cancer,2023,1878(4):188926.
[4] BABJUK M,BURGER M,CAPOUN O,et al.European association of urology guidelines on non-muscle-invasive bladder cancer (Ta,T1,and carcinoma in situ)[J].Eur Urol,2022,81(1):75-94.
[5] MANDEL P,METAIS P.Nuclear acids in human blood plasma[J].C R Seances Soc Biol Fil,1948,142(3-4):241-243.
[6] MAIA MC,SALGIA M,PAL SK.Harnessing cell-free DNA:plasma circulating tumour DNA for liquid biopsy in genitourinary cancers[J].Nat Rev Urol,2020,17(5):271-291.
[7] DANG DK,PARK BH.Circulating tumor DNA:current challenges for clinical utility[J].J Clin Invest,2022,132(12):e154941.
[8] TODENHOFER T,STRUSS WJ,SEILER R,et al.Liquid biopsy-analysis of circulating tumor DNA (ctDNA) in bladder cancer[J].Bladder Cancer,2018,4(1):19-29.
[9] PASCUAL J,ATTARD G,BIDARD FC,et al.ESMO recommendations on the use of circulating tumour DNA assays for patients with cancer:a report from the ESMO Precision Medicine Working Group[J].Ann Oncol,2022,33(8):750-768.
[10] MOULIERE F,CHANDRANANDA D,PISKORZ AM,et al.Enhanced detection of circulating tumor DNA by fragment size analysis[J].Sci Transl Med,2018,10(466):eaat4921.
[11] UNDERHILL HR,KITZMAN JO,HELLWIG S,et al.Fragment length of circulating tumor DNA[J].PLoS Genet,2016,12(7):e1006162.
[12] CHEN X,WANG L,LOU J.Nanotechnology strategies for the analysis of circulating tumor DNA:A review[J].Med Sci Monit,2020,26:e921040.
[13] RINK M,SCHWARZENBACH H,RIETHDORF S,et al.The current role and future directions of circulating tumor cells and circulating tumor DNA in urothelial carcinoma of the bladder[J].World J Urol,2019,37(9):1785-1799.
[14] VANDEKERKHOVE G,TODENHOFER T,ANNALA M,et al.Circulating tumor DNA reveals clinically actionable somatic genome of metastatic bladder cancer[J].Clin Cancer Res,2017,23(21):6487-6497.
[15] WAN JCM,MASSIE C,GARCIA-CORBACHO J,et al.Liquid biopsies come of age:towards implementation of circulating tumour DNA[J].Nat Rev Cancer,2017,17(4):223-238.
[16] ULZ P,THALLINGER GG,AUER M,et al.Inferring expressed genes by whole-genome sequencing of plasma DNA[J].Nat Genet,2016,48(10):1273-1278.
[17] CHENG ML,PECTASIDES E,HANNA GJ,et al.Circulating tumor DNA in advanced solid tumors:Clinical relevance and future directions[J].CA Cancer J Clin,2021,71(2):176-190.
[18] PELLINI B,CHAUDHURI AA.ctDNA monitoring for small cell lung cancer:Ready for prime time[J].Clin Cancer Res,2023,29(12):2176-2178.
[19] SANTONJA A,COOPER WN,ELDRIDGE MD,et al.Comparison of tumor-informed and tumor-naive sequencing assays for ctDNA detection in breast cancer[J].EMBO Mol Med,2023,15(6):e16505.
[20] MO S,YE L,WANG D,et al.Early detection of molecular residual disease and risk stratification for stage Ⅰto Ⅲ colorectal cancer via circulating tumor DNA methylation[J].JAMA Oncol,2023,9(6):770-778.
[21] HUEBNER A,BLACK JRM,SARNO F,et al.ACT-discover:identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA[J].Genome Med,2023,15(1):27.
[22] 单逸凡,戴一扬.循环肿瘤DNA在胃癌和结直肠癌早期诊断中的应用进展[J].现代肿瘤医学,2024,32(15):2915-2920.
SHAN YF,DAI YY.Application progress of circulating tumor DNA in early diagnosis of gastric cancer and colorectal cancer[J].Modern Oncology,2024,32(15):2915-2920.
[23] 喻明,苏亚娟.循环肿瘤DNA甲基化在卵巢癌中的研究进展[J].现代肿瘤医学,2022,30(19):3611-3614.
YU M,SU YJ.Research progress of circulating tumor DNA methylation in ovarian cancer[J].Modern Oncology,2022,30(19):3611-3614.
[24] PALACIN-ALIANA I,GARCIA-ROMERO N,ASENSI-PUIG A,et al.Clinical utility of liquid biopsy-based actionable mutations detected via ddPCR[J].Biomedicines,2021,9(8):906.
[25] PENG R,ZHANG R,LI J.Continual improvement of the reliability of next-generation sequencing-based ctDNA analysis:A long-term comparison of ctDNA detection in China[J].Clin Chem,2022,68(7):940-952.
[26] MOSELE F,REMON J,MATEO J,et al.Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers:a report from the ESMO Precision Medicine Working Group[J].Ann Oncol,2020,31(11):1491-1505.
[27] 辇伟奇,于津浦,袁响林,等.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(03):240-252.
YAN WQ,YU JP,YUAN XL,et al.Expert consensus on clinical practice of ctDNA high-throughput sequencing (2022 edition)[J].Chin J Cancer Prevention and Treatment,2022,14(03):240-252.
[28] RANUCCI R.Cell-free DNA:Applications in different diseases[J].Methods Mol Biol,2019,1909:3-12.
[29] CHRISTENSEN E,WYATT AW,GALSKY MD,et al.IBCN seminar series 2021:Circulating tumor DNA in bladder cancer[J].Urol Oncol,2022,41(7):318-322.
[30] GORMALLY E,VINEIS P,MATULLO G,et al.TP53 and KRAS2 mutations in plasma DNA of healthy subjects and subsequent cancer occurrence:a prospective study[J].Cancer Res,2006,66(13):6871-6876.
[31] HOSEN MI,SHEIKH M,ZVEREVA M,et al.Urinary TERT promoter mutations are detectable up to 10 years prior to clinical diagnosis of bladder cancer:Evidence from the golestan cohort study[J].EBioMedicine,2020,53:102643.
[32] GREEN EA,LI R,ALBIGES L,et al.Clinical utility of cell-free and circulating tumor DNA in kidney and bladder cancer:A critical review of current literature[J].Eur Urol Oncol,2021,4(6):893-903.
[33] KLEIN EA,RICHARDS D,COHN A,et al.Clinical validation of a targeted methylation-based multi-cancer early detection test using an independent validation set[J].Ann Oncol,2021,32(9):1167-1177.
[34] DUDLEY JC,SCHROERS-MARTIN J,LAZZARESCHI DV,et al.Detection and surveillance of bladder cancer using urine tumor DNA[J].Cancer Discovery,2019,9(4):500-509.
[35] ZHANG J,DAI D,TIAN J,et al.Circulating tumor DNA analyses predict disease recurrence in non-muscle-invasive bladder cancer[J].Front Oncol,2021,11:657483.
[36] 杨孝杰,高中伟,任小强,等.尿液中循环肿瘤DNA水平预测非肌层浸润性膀胱癌术后复发及进展的临床价值[J].现代肿瘤医学,2022,30(11):1994-1997.
YANG XJ,GAO ZW,REN XQ,et al.Clinical value of urinary circulating tumor DNA level in predicting postoperative recurrence and progression of non-muscle invasive bladder cancer[J].Modern Oncology,2022,30(11):1994-1997.
[37] CARRASCO R,INGELMO-TORRES M,GOMEZ A,et al.Cell-free DNA as a prognostic biomarker for monitoring muscle-invasive bladder cancer[J].Int J Mol Sci,2022,23(19):11732.
[38] SHOHDY KS,VILLAMAR DM,CAO Y,et al.Serial ctDNA analysis predicts clinical progression in patients with advanced urothelial carcinoma[J].Br J Cancer,2022,126(3):430-439.
[39] CHALFIN HJ,GLAVARIS SA,GORIN MA,et al.Circulating tumor cell and circulating tumor DNA assays reveal complementary information for patients with metastatic urothelial cancer[J].Eur Urol Oncol,2021,4(2):310-314.
[40] VIVANCOS A,TABERNERO J.Circulating tumor DNA as a novel prognostic indicator[J].Nat Med,2022,28(11):2255-2256.
[41] CRUPI E,DE PADUA TC,MARANDINO L,et al.Circulating tumor DNA as a predictive and prognostic biomarker in the perioperative treatment of muscle-invasive bladder cancer:A systematic review[J].Eur Urol Oncol,2024,7(1):44-52.
[42] LINDSKROG SV,LALIOTIS G,BIRKENKAMP-DEMTRODER K,et al.Utility of circulating tumor DNA and transcriptomic profiling in predicting outcome in muscle invasive bladder cancer patients[J].Cancer Research,2023,83(7_suppl):5600.
[43] LARS D,GEORGE LALIOTIS MDP,IVER N,et al.Utility of ctDNA in predicting outcome and pathological complete response in patients with bladder cancer as a guide for selective bladder preservation strategies[J].Journal of Clinical Oncology,2023,41(6_suppl):563.
[44] LAUKHTINA E,HASSLER MR,PRADERE B,et al.Circulating tumour DNA is a strong predictor of outcomes in patients treated with systemic therapy for urothelial carcinoma[J].Eur Urol Focus,2022,8(6):1683-1686.
[45] VANDEKERKHOVE G,LAVOIE JM,ANNALA M,et al.Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer[J].Nat Commun,2021,12(1):184.
[46] ABURUSTUM N,YASHAR C,AREND R,et al.Uterine neoplasms,version 1.2023,NCCN clinical practice guidelines in oncology[J].Journal of the National Comprehensive Cancer Network,2023,21(2):181-209.
[47] 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.
[48] TIVEY A,CHURCH M,ROTHWELL D,et al.Circulating tumour DNA-looking beyond the blood[J].Nat Rev Clin Oncol,2022,19(9):600-612.
[49] CHAUHAN PS,SHIANG A,ALAHI I,et al.Urine cell-free DNA multi-omics to detect MRD and predict survival in bladder cancer patients[J].NPJ Precis Oncol,2023,7(1):6.
[50] CHAUHAN PS,CHEN K,BABBRA RK,et al.Correction:Urine tumor DNA detection of minimal residual disease in muscle-invasive bladder cancer treated with curative-intent radical cystectomy:A cohort study[J].PLoS Med,2021,18(12):e1003876.
[51] CHRISTENSEN E,BIRKENKAMP-DEMTRODER K,SETHI H,et al.Early detection of metastatic relapse and monitoring of therapeutic efficacy by ultra-deep sequencing of plasma cell-free DNA in patients with urothelial bladder carcinoma[J].J Clin Oncol,2019,37(18):1547-1557.
[52] BIRKENKAMP-DEMTRODER K,NORDENTOFT I,CHRISTENSEN E,et al.Genomic alterations in liquid biopsies from patients with bladder cancer[J].Eur Urol,2016,70(1):75-82.
[53] POWLES T,ASSAF ZJ,DAVARPANAH N,et al.ctDNA guiding adjuvant immunotherapy in urothelial carcinoma[J].Nature,2021,595(7867):432-437.
[54] SZABADOS B,KOCKX M,ASSAF ZJ,et al.Final results of neoadjuvant atezolizumab in cisplatin-ineligible patients with muscle-invasive urothelial cancer of the bladder[J].Eur Urol,2022,82(2):212-222.
[55] JACKSON-SPENCE F,TOMS C,O' MAHONY LF,et al.IMvigor011:a study of adjuvant atezolizumab in patients with high-risk MIBC who are ctDNA+ post-surgery[J].Future Oncol,2023,19(7):509-515.
[56] BRATMAN SV,YANG SYC,IAFOLLA MAJ,et al.Personalized circulating tumor DNA analysis as a predictive biomarker in solid tumor patients treated with pembrolizumab[J].Nat Cancer,2020,1(9):873-881.
[57] ROSENBERG JE,HOFFMAN-CENSITS J,POWLES T,et al.Atezolizumab in patients with locally advanced and metastatic urothelial carcinoma who have progressed following treatment with platinum-based chemotherapy:a single-arm,multicentre,phase 2 trial[J].Lancet,2016,387(10031):1909-1920.