循环肿瘤DNA检测在结直肠癌临床诊疗中的研究进展
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摘要
结直肠癌是我国第三大常见癌症,现有的结直肠癌早期筛查和术后监测手段均存在局限性。循环肿瘤DNA(circulating tumor DNA,ctDNA)通过肿瘤细胞凋亡、坏死或分泌等途径释放到外周血,可反映肿瘤组织相关变异信息。随着二代测序(next generation sequencing,NGS)技术快速发展,血浆中微量ctDNA的精准检测为结直肠癌的早期筛查提供机遇。同时,纵向监测结直肠癌患者的ctDNA可以较好地反映肿瘤负荷的动态变化。本文拟从ctDNA检测在结直肠癌早期筛查、个性化用药指导、疗效监测以及预后评估等方面的潜在临床价值进行综述。
引文
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[23] STRICKLER J H,LOREE J M,AHRONIAN L G,et al.Genomic Landscape of Cell-Free DNA in Patients with Colorectal Cancer[J].Cancer Discov,2018,8(2):164-173.
[24] HEINEMANN V,VON WEIKERSTHAL L F,DECKER T,et al.FOLFIRI plus cetuximab versus FOLFIRI plus bevacizumab as firstline treatment for patients with metastatic colorectal cancer(FIRE-3):a randomised,open-label,phase 3 tria[lJ].Lancet Oncol,2014,15(10):1065-1075.
[2] WAN J C M,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.
[3] SPINDLER K L,PALLISGAARD N,VOGELIUS I,et al.Quantitative cell-free DNA,KRAS,and BRAF mutations in plasma from patients with metastatic colorectal cancer during treatment with cetuximab and irinotecan[J].Clin Cancer Res,2012,18(4):1177-1185.
[4] NEWMAN A M,BRATMAN S V,TO J,et al.An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage[J].Nat Med,2014,20(5):548-554.
[5] BRATMAN S V,NEWMAN A M,ALIZADEH A A,et al.Potential clinical utility of ultrasensitive circulating tumor DNA detection with CAPP-Seq[J].Expert Rev Mol Diagn,2015,15(6):715-719.
[6] KINDE I,WU J,PAPADOPOULOS N,et al.Detection and quantification of rare mutations with massively parallel sequencing[J].Proc Natl Acad Sci USA,2011,108(23):9530-9535.
[7] PHALLEN J,SAUSEN M,ADLEFF V,et al.Direct detection of earlystage cancers using circulating tumor DNA[J].Sci Transl Med,2017,9(403):eaan2415.
[8] VANNI I,COCO S,TRUINI A,et al.Next-Generation Sequencing Workflow for NSCLC Critical Samples Using a Targeted Sequencing Approach by Ion Torrent PGM Platform[J].Int J Mol Sci,2015,16(12):28765-28782.
[9] TORGA G,PIENTA K J.Patient-Paired Sample Congruence Between 2Commercial Liquid Biopsy Tests[J].JAMA Oncol,2018,4(6):868-870.
[10]KOPRESKI M S,BENKO F A,BORYS D J,et al.Somatic mutation screening:identification of individuals harboring K-ras mutations with the use of plasma DNA[J].J Natl Cancer Inst,2000,92(11):918-923.
[11]CHURCH T R,WANDELL M,LOFTON-DAY C,et al.Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer[J].Gut,2014,63(2):317-325.
[12]COHEN J D,LI L,WANG Y,et al.Detection and localization of surgically resectable cancers with a multi-analyte blood test[J].Science,2018,359(6378):926-930.
[13]BETTEGOWDA C,SAUSEN M,LEARY R J,et al.Detection of circulating tumor DNA in early-and late-stage human malignancies[J].Sci Transl Med,2014,6(224):224ra224.
[14]TIE J,WANG Y,TOMASETTI C,et al.Circulating tumor DNA analysis detects minimal residual disease and predicts recurrence in patients with stageⅡcolon cance[rJ]. Sci Transl Med,2016,8(346):346ra392.
[15]REINERT T,SCHOLER L V,THOMSEN R,et al.Analysis of circulating tumour DNA to monitor disease burden following colorectal cancer surgery[J].Gut,2016,65(4):625-634.
[16]SPINDLER K L,APPELT A L,PALLISGAARD N,et al.Cell-free DNA in healthy individuals,noncancerous disease and strong prognostic value in colorectal cancer[J].Int J Cancer,2014,135(12):2984-2991.
[17]SPINDLER K G,BOYSEN A K,PALLISGARD N,et al.Cell-Free DNA in Metastatic Colorectal Cancer:A Systematic Review and Meta-Analysis[J].Oncologist,2017,22(9):1049-1055.
[18]BEIJE N,HELMIJR J C,WEERTS M J A,et al.Somatic mutation detection using various targeted detection assays in paired samples of circulating tumor DNA,primary tumor and metastases from patients undergoing resection of colorectal liver metastases[J]. Mol Oncol,2016,10(10):1575-1584.
[19]SIRAVEGNA G,MUSSOLIN B,BUSCARINO M,et al.Clonal evolution and resistance to EGFR blockade in the blood of colorectal cancer patients[J].Nat Med,2015,21(7):795-801.
[20]KIM T W,PEETERS M,THOMAS A,et al.Impact of Emergent Circulating Tumor DNA RAS Mutation in Panitumumab-Treated Chemoresistant Metastatic Colorectal Cance[rJ].Clin Cancer Res,2018,24(22):5602-5609.
[21]EID J,FEHR A,GRAY J,et al.Real-time DNA sequencing from single polymerase molecules[J]. Science,2009,323(5910):133-138.
[22] XU J M,WANG Y,WANG Y L,et al.PIK3CA Mutations Contribute to Acquired Cetuximab Resistance in Patients with Metastatic Colorectal Cance[rJ].Clin Cancer Res,2017,23(16):4602-4616.
[23] STRICKLER J H,LOREE J M,AHRONIAN L G,et al.Genomic Landscape of Cell-Free DNA in Patients with Colorectal Cancer[J].Cancer Discov,2018,8(2):164-173.
[24] HEINEMANN V,VON WEIKERSTHAL L F,DECKER T,et al.FOLFIRI plus cetuximab versus FOLFIRI plus bevacizumab as firstline treatment for patients with metastatic colorectal cancer(FIRE-3):a randomised,open-label,phase 3 tria[lJ].Lancet Oncol,2014,15(10):1065-1075.