外周血SEPT9基因甲基化检测在结直肠癌筛查中的应用进展
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摘要
结直肠癌(CRC)的早期诊断具有重要临床意义。外周血SEPT9基因甲基化在大量研究中被证实是CRC的特异性生物学标记物,敏感性和特异性均较高,较之目前常用的粪便隐血试验、血清肿瘤标记物和结肠镜筛查具有一定优势,但在筛查腺瘤、息肉等癌前病变中的应用价值有限,用于评估CRC术后复发和放化疗效果的潜力则尚需进一步临床验证。本文就外周血SEPT9基因甲基化检测在CRC筛查中的应用进展作一综述。
The early detection and diagnosis of colorectal cancer( CRC) is of great clinical importance. Peripheral blood methylated SEPT9 gene was found to be a sensitive and specific biomarker for CRC and was superior to other commonly used screening methods such as fecal occult blood test,serum tumor markers and colonoscopy in a variety of studies. But it is of limited value in screening of adenomas,polyps and other precursors of CRC,and its capacities for assessment of cancer recurrence and therapeutic effects of radiotherapy and chemotherapy need further clinical validation.This article reviewed the progress in application of peripheral blood methylated SEPT9 gene assay for CRC screening.
The early detection and diagnosis of colorectal cancer( CRC) is of great clinical importance. Peripheral blood methylated SEPT9 gene was found to be a sensitive and specific biomarker for CRC and was superior to other commonly used screening methods such as fecal occult blood test,serum tumor markers and colonoscopy in a variety of studies. But it is of limited value in screening of adenomas,polyps and other precursors of CRC,and its capacities for assessment of cancer recurrence and therapeutic effects of radiotherapy and chemotherapy need further clinical validation.This article reviewed the progress in application of peripheral blood methylated SEPT9 gene assay for CRC screening.
引文
1中华医学会消化内镜学分会,中国抗癌协会肿瘤内镜学专业委员会.中国早期结直肠癌筛查及内镜诊治指南(2014,北京)[J].中华医学杂志,2015,95(28):2235-2252.
2 American Cancer Society.Colorectal Cancer Facts&Figures 2011-2013[R].Atlanta,GA:American Cancer Society,2011:7-8.
3 姜岩松,刘国祥,黄慧瑶,等.免疫法粪便隐血试验检测大肠癌准确度的Meta分析[J].中华预防医学杂志,2015,49(5):392-398.
4 Tóth K,Sipos F,Kalmár A,et al.Detection of methylated SEPT9 in plasma is a reliable screening method for both left-and right-sided colon cancers[J].PLo S One,2012,7(9):e46000.
5 Song L,Jia J,Yu H,et al.The performance of the m SEPT9 assay is influenced by algorithm,cancer stage and age,but not sex and cancer location[J].J Cancer Res Clin Oncol,2017,143(6):1093-1101.
6 Neubauer K,Zieger B.The Mammalian Septin Interactome[J].Front Cell Dev Biol,2017,5:3.
7 Longtine MS,De Marini DJ,Valencik ML,et al.The septins:roles in cytokinesis and other processes[J].Curr Opin Cell Biol,1996,8(1):106-119.
8 Kim MS,Froese CD,Estey MP,et al.SEPT9 occupies the terminal positions in septin octamers and mediates polymerization-dependent functions in abscission[J].J Cell Biol,2011,195(5):815-826.
9 Estey MP,Di Ciano-Oliveira C,Froese CD,et al.Distinct roles of septins in cytokinesis:SEPT9 mediates midbody abscission[J].J Cell Biol,2010,191(4):741-749.
10 Tóth K,Galamb O,Spisák S,et al.The influence of methylated septin 9 gene on RNA and protein level in colorectal cancer[J].Pathol Oncol Res,2011,17(3):503-509.
11 Connolly D,Yang Z,Castaldi M,et al.Septin 9 isoform expression,localization and epigenetic changes during human and mouse breast cancer progression[J].Breast Cancer Res,2011,13(4):R76.
12 Scott M,Mc Cluggage WG,Hillan KJ,et al.Altered patterns of transcription of the septin gene,SEPT9,in ovarian tumorigenesis[J].Int J Cancer,2006,118(5):1325-1329.
13 Wasserkort R,Kalmar A,Valcz G,et al.Aberrant septin 9 DNA methylation in colorectal cancer is restricted to a single Cp G island[J].BMC Cancer,2013,13:398.
14 Grützmann R,Molnar B,Pilarsky C,et al.Sensitive detection of colorectal cancer in peripheral blood by septin 9 DNA methylation assay[J].PLo S One,2008,3(11):e3759.
15 康倩,金鹏,杨浪,等.外周血游离DNA中Septin9基因甲基化在结直肠癌筛查中的意义[J].中华医学杂志,2014,94(48):3839-3841.
16 贺娜,褚文慧,李永奇,等.血浆甲基化Sept9基因检测在结直肠癌诊断中的临床意义[J].中华消化杂志,2014,34(11):726-731.
17 丁清清,张皓,许海尘,等.胞裂蛋白9基因甲基化在老年人群结直肠癌筛查中的意义[J].中华老年医学杂志,2015,34(12):1348-1350.
18 Jin P,Kang Q,Wang X,et al.Performance of a secondgeneration methylated SEPT9 test in detecting colorectal neoplasm[J].J Gastroenterol Hepatol,2015,30(5):830-833.
19 吴东,杨红,李玥,等.外周血甲基化Septin9基因联合粪便免疫化学试验对专科门诊患者结直肠癌和腺瘤的筛查[J].中华消化杂志,2016,36(2):107-112.
20 Nian J,Sun X,Ming S,et al.Diagnostic Accuracy of Methylated SEPT9 for Blood-based Colorectal Cancer Detection:A Systematic Review and Meta-Analysis[J].Clin Transl Gastroenterol,2017,8(1):e216.
21 李士杰,刘艳刚,王警,等.外周血Septin9基因甲基化检测在结直肠癌筛查中的应用[J].中国普通外科杂志,2015,24(12):1756-1760.
22 郁迪,张小虎,鲁辛辛.血清SEPT9基因甲基化检测在结直肠癌诊断中的应用[J].临床检验杂志,2015,33(9):687-689.
23 Lee HS,Hwang SM,Kim TS,et al.Circulating methylated septin 9 nucleic Acid in the plasma of patients with gastrointestinal cancer in the stomach and colon[J].Transl Oncol,2013,6(3):290-296.
24 Church TR,Wandell M,Lofton-Day C,et al;PRESEPT Clinical Study Steering Committee,Investigators and Study Team.Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer[J].Gut,2014,63(2):317-325.
25 Johnson DA,Barclay RL,Mergener K,et al.Plasma Septin9 versus fecal immunochemical testing for colorectal cancer screening:a prospective multicenter study[J].PLo S One,2014,9(6):e98238.
26 Zorzi M,Fedeli U,Schievano E,et al.Impact on colorectal cancer mortality of screening programmes based on the faecal immunochemical test[J].Gut,2015,64(5):784-790.
27 van Rossum LG,van Rijn AF,van Oijen MG,et al.False negative fecal occult blood tests due to delayed sample return in colorectal cancer screening[J].Int J Cancer,2009,125(4):746-750.
28 Yan L,Zhao W,Yu H,et al.A Comprehensive MetaAnalysis of MicroRNAs for Predicting Colorectal Cancer[J].Medicine(Baltimore),2016,95(9):e2738.
29 Iannone A,Losurdo G,Pricci M,et al.Stool Investigations for Colorectal Cancer Screening:From Occult Blood Test to DNA Analysis[J].J Gastrointest Cancer,2016,47(2):143-151.
30 余捷凯,杨美琴,姜铁军,等.血清肿瘤标志物优化组合人工神经网络模型在大肠癌诊断中的应用[J].浙江大学学报(医学版),2004,33(5):407-410.
2 American Cancer Society.Colorectal Cancer Facts&Figures 2011-2013[R].Atlanta,GA:American Cancer Society,2011:7-8.
3 姜岩松,刘国祥,黄慧瑶,等.免疫法粪便隐血试验检测大肠癌准确度的Meta分析[J].中华预防医学杂志,2015,49(5):392-398.
4 Tóth K,Sipos F,Kalmár A,et al.Detection of methylated SEPT9 in plasma is a reliable screening method for both left-and right-sided colon cancers[J].PLo S One,2012,7(9):e46000.
5 Song L,Jia J,Yu H,et al.The performance of the m SEPT9 assay is influenced by algorithm,cancer stage and age,but not sex and cancer location[J].J Cancer Res Clin Oncol,2017,143(6):1093-1101.
6 Neubauer K,Zieger B.The Mammalian Septin Interactome[J].Front Cell Dev Biol,2017,5:3.
7 Longtine MS,De Marini DJ,Valencik ML,et al.The septins:roles in cytokinesis and other processes[J].Curr Opin Cell Biol,1996,8(1):106-119.
8 Kim MS,Froese CD,Estey MP,et al.SEPT9 occupies the terminal positions in septin octamers and mediates polymerization-dependent functions in abscission[J].J Cell Biol,2011,195(5):815-826.
9 Estey MP,Di Ciano-Oliveira C,Froese CD,et al.Distinct roles of septins in cytokinesis:SEPT9 mediates midbody abscission[J].J Cell Biol,2010,191(4):741-749.
10 Tóth K,Galamb O,Spisák S,et al.The influence of methylated septin 9 gene on RNA and protein level in colorectal cancer[J].Pathol Oncol Res,2011,17(3):503-509.
11 Connolly D,Yang Z,Castaldi M,et al.Septin 9 isoform expression,localization and epigenetic changes during human and mouse breast cancer progression[J].Breast Cancer Res,2011,13(4):R76.
12 Scott M,Mc Cluggage WG,Hillan KJ,et al.Altered patterns of transcription of the septin gene,SEPT9,in ovarian tumorigenesis[J].Int J Cancer,2006,118(5):1325-1329.
13 Wasserkort R,Kalmar A,Valcz G,et al.Aberrant septin 9 DNA methylation in colorectal cancer is restricted to a single Cp G island[J].BMC Cancer,2013,13:398.
14 Grützmann R,Molnar B,Pilarsky C,et al.Sensitive detection of colorectal cancer in peripheral blood by septin 9 DNA methylation assay[J].PLo S One,2008,3(11):e3759.
15 康倩,金鹏,杨浪,等.外周血游离DNA中Septin9基因甲基化在结直肠癌筛查中的意义[J].中华医学杂志,2014,94(48):3839-3841.
16 贺娜,褚文慧,李永奇,等.血浆甲基化Sept9基因检测在结直肠癌诊断中的临床意义[J].中华消化杂志,2014,34(11):726-731.
17 丁清清,张皓,许海尘,等.胞裂蛋白9基因甲基化在老年人群结直肠癌筛查中的意义[J].中华老年医学杂志,2015,34(12):1348-1350.
18 Jin P,Kang Q,Wang X,et al.Performance of a secondgeneration methylated SEPT9 test in detecting colorectal neoplasm[J].J Gastroenterol Hepatol,2015,30(5):830-833.
19 吴东,杨红,李玥,等.外周血甲基化Septin9基因联合粪便免疫化学试验对专科门诊患者结直肠癌和腺瘤的筛查[J].中华消化杂志,2016,36(2):107-112.
20 Nian J,Sun X,Ming S,et al.Diagnostic Accuracy of Methylated SEPT9 for Blood-based Colorectal Cancer Detection:A Systematic Review and Meta-Analysis[J].Clin Transl Gastroenterol,2017,8(1):e216.
21 李士杰,刘艳刚,王警,等.外周血Septin9基因甲基化检测在结直肠癌筛查中的应用[J].中国普通外科杂志,2015,24(12):1756-1760.
22 郁迪,张小虎,鲁辛辛.血清SEPT9基因甲基化检测在结直肠癌诊断中的应用[J].临床检验杂志,2015,33(9):687-689.
23 Lee HS,Hwang SM,Kim TS,et al.Circulating methylated septin 9 nucleic Acid in the plasma of patients with gastrointestinal cancer in the stomach and colon[J].Transl Oncol,2013,6(3):290-296.
24 Church TR,Wandell M,Lofton-Day C,et al;PRESEPT Clinical Study Steering Committee,Investigators and Study Team.Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer[J].Gut,2014,63(2):317-325.
25 Johnson DA,Barclay RL,Mergener K,et al.Plasma Septin9 versus fecal immunochemical testing for colorectal cancer screening:a prospective multicenter study[J].PLo S One,2014,9(6):e98238.
26 Zorzi M,Fedeli U,Schievano E,et al.Impact on colorectal cancer mortality of screening programmes based on the faecal immunochemical test[J].Gut,2015,64(5):784-790.
27 van Rossum LG,van Rijn AF,van Oijen MG,et al.False negative fecal occult blood tests due to delayed sample return in colorectal cancer screening[J].Int J Cancer,2009,125(4):746-750.
28 Yan L,Zhao W,Yu H,et al.A Comprehensive MetaAnalysis of MicroRNAs for Predicting Colorectal Cancer[J].Medicine(Baltimore),2016,95(9):e2738.
29 Iannone A,Losurdo G,Pricci M,et al.Stool Investigations for Colorectal Cancer Screening:From Occult Blood Test to DNA Analysis[J].J Gastrointest Cancer,2016,47(2):143-151.
30 余捷凯,杨美琴,姜铁军,等.血清肿瘤标志物优化组合人工神经网络模型在大肠癌诊断中的应用[J].浙江大学学报(医学版),2004,33(5):407-410.