SEPT9基因甲基化在结直肠癌诊断中的研究进展
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摘要
结直肠癌(CRC)是最常见的消化道恶性肿瘤之一,其预后差,病死率高。SEPT9基因是一种抑癌基因,在细胞分裂末期起重要作用,目前研究已发现SEPT9基因甲基化检测可用于CRC的早期诊断。本文就SEPT9基因甲基化在CRC筛查和诊断中的研究进展作一综述。
Colorectal cancer( CRC) is one of the most common gastrointestinal malignancies with poor prognosis and high mortality. SEPT9 gene is a tumor suppressor gene and plays an important role in the end of cell division. Studies have shown that methylation of SEPT9 gene could be used in the early diagnosis of CRC. This article reviewed the advances in study on SEPT9 gene methylation in the screening and diagnosis of CRC.
Colorectal cancer( CRC) is one of the most common gastrointestinal malignancies with poor prognosis and high mortality. SEPT9 gene is a tumor suppressor gene and plays an important role in the end of cell division. Studies have shown that methylation of SEPT9 gene could be used in the early diagnosis of CRC. This article reviewed the advances in study on SEPT9 gene methylation in the screening and diagnosis of CRC.
引文
1中华人民共和国卫生和计划生育委员会医政医管局,中华医学会肿瘤学分会.中国结直肠癌诊疗规范(2015版)[J].中华消化外科杂志,2015,14(10):783-799.
2 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年,北京)[J].中华消化内镜杂志,2015,32(6):341-360.
3 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.
4 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.
5 Lofton-Day C,Model F,Devos T,et al.DNA methylation biomarkers for blood-based colorectal cancer screening[J].Clin Chem,2008,54(2):414-423.
6 de Vos T,Tetzner R,Model F,et al.Circulating methylated SEPT9 DNA in plasma is a biomarker for colorectal cancer[J].Clin Chem,2009,55(7):1337-1346.
7 Tnzer M,Balluff B,Distler J,et al.Performance of epigenetic markers SEPT9 and ALX4 in plasma for detection of colorectal precancerous lesions[J].PLo S One,2010,5(2):e9061.
8 Warren JD,Xiong W,Bunker AM,et al.Septin 9methylated DNA is a sensitive and specific blood test for colorectal cancer[J].BMC Med,2011,9(1):133.
9 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.
10 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.
11 Church TR,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 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.
13 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.
14 Molnár B,Tóth K,Barták BK,et al.Plasma methylated septin 9:a colorectal cancer screening marker[J].Expert Rev Mol Diagn,2015,15(2):171-184.
15 Li Y,Song L,Gong Y,et al.Detection of colorectal cancer by DNA methylation biomarker SEPT9:past,present and future[J].Biomark Med,2014,8(5):755-769.
16 Hall PA,Russell SE.The pathobiology of the septin gene family[J].J Pathol,2004,204(4):489-505.
17 Smith C,Dolat L,Angelis D,et al.Septin 9 exhibits polymorphic binding to F-actin and inhibits myosin and cofilin activity[J].J Mol Biol,2015,427(20):3273-3284.
18 Chacko AD,Hyland PL,Mc Dade SS,et al.SEPT9_v4expression induces morphological change,increased motility and disturbed polarity[J].J Pathol,2005,206(4):458-465.
19 Golan M,Mabjeesh NJ.SEPT9_i1 is required for the association between HIF-1αand importin-αto promote efficient nuclear translocation[J].Cell Cycle,2013,12(14):2297-2308.
20 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.
21 刘志永,徐心.Septin9基因与结直肠癌相关性研究进展[J].医学综述,2016,22(17):3390-3393.
22 CoppedèF.Epigenetic biomarkers of colorectal cancer:Focus on DNA methylation[J].Cancer Lett,2014,342(2):238-247.
23 Spisák S,Kalmár A,Galamb O,et al.Genome-wide screening of genes regulated by DNA methylation in colon cancer development[J].PLo S One,2012,7(10):e46215.
24 Ahmed D,Danielsen SA,Aagesen TH,et al.A tissuebased comparative effectiveness analysis of biomarkers for early detection of colorectal tumors[J].Clin Transl Gastroenterol,2012,3(12):e27.
25 Jones PA,Baylin SB.The epigenomics of cancer[J].Cell,2007,128(4):683-692.
26 林春燕,税青林.SEPT9与恶性肿瘤的研究进展[J].泸州医学院学报,2013,36(2):186-188.
27 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.
28 Lao VV,Grady WM.Epigenetics and colorectal cancer[J].Nat Rev Gastroenterol Hepatol,2011,8(12):686-700.
29 张澍田.中国早期结直肠癌及癌前病变筛查与诊治[J].中华医学信息导报,2016,31(17):14.
30 Willyard C.To foster screening,new colon cancer tests emphasize convenience[J].Nat Med,2014,20(4):322-323.
31 Adler A,Geiger S,Keil A,et al.Improving compliance to colorectal cancer screening using blood and stool based tests in patients refusing screening colonoscopy in Germany[J].BMC Gastroenterol,2014,14:183.
32 Xue M,Lai SC,Xu ZP,et al.Noninvasive DNA methylation biomarkers in colorectal cancer:A systematic review[J].J Dig Dis,2015,16(12):699-712.
33 赵慧霞,李秋文,董伟伟,等.粪便SEPT9基因甲基化检测在结直肠癌早期诊断中的应用研究[J].中华临床医师杂志(电子版),2012,6(10):42-45.
34 何琼,王冕,周建文,等.多重Methy Light在结直肠癌相关基因ALX4和SEPT9甲基化检测中的应用[J].中山大学学报(医学科学版),2015,36(5):657-662.
35 贺娜.血浆甲基化SEPT9基因检测在优化大肠癌筛查方案中的应用研究[D].西安:第四军医大学,2015.
36 Yan S,Liu Z,Yu S,et al.Diagnostic value of methylated Septin9 for colorectal cancer screening:a meta-analysis[J].Med Sci Monit,2016,22:3409-3418.
2 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年,北京)[J].中华消化内镜杂志,2015,32(6):341-360.
3 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.
4 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.
5 Lofton-Day C,Model F,Devos T,et al.DNA methylation biomarkers for blood-based colorectal cancer screening[J].Clin Chem,2008,54(2):414-423.
6 de Vos T,Tetzner R,Model F,et al.Circulating methylated SEPT9 DNA in plasma is a biomarker for colorectal cancer[J].Clin Chem,2009,55(7):1337-1346.
7 Tnzer M,Balluff B,Distler J,et al.Performance of epigenetic markers SEPT9 and ALX4 in plasma for detection of colorectal precancerous lesions[J].PLo S One,2010,5(2):e9061.
8 Warren JD,Xiong W,Bunker AM,et al.Septin 9methylated DNA is a sensitive and specific blood test for colorectal cancer[J].BMC Med,2011,9(1):133.
9 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.
10 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.
11 Church TR,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 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.
13 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.
14 Molnár B,Tóth K,Barták BK,et al.Plasma methylated septin 9:a colorectal cancer screening marker[J].Expert Rev Mol Diagn,2015,15(2):171-184.
15 Li Y,Song L,Gong Y,et al.Detection of colorectal cancer by DNA methylation biomarker SEPT9:past,present and future[J].Biomark Med,2014,8(5):755-769.
16 Hall PA,Russell SE.The pathobiology of the septin gene family[J].J Pathol,2004,204(4):489-505.
17 Smith C,Dolat L,Angelis D,et al.Septin 9 exhibits polymorphic binding to F-actin and inhibits myosin and cofilin activity[J].J Mol Biol,2015,427(20):3273-3284.
18 Chacko AD,Hyland PL,Mc Dade SS,et al.SEPT9_v4expression induces morphological change,increased motility and disturbed polarity[J].J Pathol,2005,206(4):458-465.
19 Golan M,Mabjeesh NJ.SEPT9_i1 is required for the association between HIF-1αand importin-αto promote efficient nuclear translocation[J].Cell Cycle,2013,12(14):2297-2308.
20 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.
21 刘志永,徐心.Septin9基因与结直肠癌相关性研究进展[J].医学综述,2016,22(17):3390-3393.
22 CoppedèF.Epigenetic biomarkers of colorectal cancer:Focus on DNA methylation[J].Cancer Lett,2014,342(2):238-247.
23 Spisák S,Kalmár A,Galamb O,et al.Genome-wide screening of genes regulated by DNA methylation in colon cancer development[J].PLo S One,2012,7(10):e46215.
24 Ahmed D,Danielsen SA,Aagesen TH,et al.A tissuebased comparative effectiveness analysis of biomarkers for early detection of colorectal tumors[J].Clin Transl Gastroenterol,2012,3(12):e27.
25 Jones PA,Baylin SB.The epigenomics of cancer[J].Cell,2007,128(4):683-692.
26 林春燕,税青林.SEPT9与恶性肿瘤的研究进展[J].泸州医学院学报,2013,36(2):186-188.
27 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.
28 Lao VV,Grady WM.Epigenetics and colorectal cancer[J].Nat Rev Gastroenterol Hepatol,2011,8(12):686-700.
29 张澍田.中国早期结直肠癌及癌前病变筛查与诊治[J].中华医学信息导报,2016,31(17):14.
30 Willyard C.To foster screening,new colon cancer tests emphasize convenience[J].Nat Med,2014,20(4):322-323.
31 Adler A,Geiger S,Keil A,et al.Improving compliance to colorectal cancer screening using blood and stool based tests in patients refusing screening colonoscopy in Germany[J].BMC Gastroenterol,2014,14:183.
32 Xue M,Lai SC,Xu ZP,et al.Noninvasive DNA methylation biomarkers in colorectal cancer:A systematic review[J].J Dig Dis,2015,16(12):699-712.
33 赵慧霞,李秋文,董伟伟,等.粪便SEPT9基因甲基化检测在结直肠癌早期诊断中的应用研究[J].中华临床医师杂志(电子版),2012,6(10):42-45.
34 何琼,王冕,周建文,等.多重Methy Light在结直肠癌相关基因ALX4和SEPT9甲基化检测中的应用[J].中山大学学报(医学科学版),2015,36(5):657-662.
35 贺娜.血浆甲基化SEPT9基因检测在优化大肠癌筛查方案中的应用研究[D].西安:第四军医大学,2015.
36 Yan S,Liu Z,Yu S,et al.Diagnostic value of methylated Septin9 for colorectal cancer screening:a meta-analysis[J].Med Sci Monit,2016,22:3409-3418.