Septin9基因甲基化 DNA 检测方法在结直肠癌 筛查中的诊断价值

黎阳 1,2 ，惠凌云 1 ，王亚文 1，3

1.西安交通大学第一附属医院检验科，陕西 西安，710061；2.西安市中心医院检验科，陕西 西安，710003； 3.西安交通大学第一附属医院生物样本信息资源中心,陕西 西安，710061

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摘要：

目的 评价外周血 Septin9基因（SEPT9）甲基化 DNA 检测方法在结直肠癌（CRC）筛查中的诊断价值。方法 收集 72例结直肠癌患者作为病例组，61例非结直肠癌患者和健康人群作为对照组。以结直肠镜病理诊断为金标准进行确诊，同时进行血浆 SEPT9甲基化检测和粪便潜血试验（FOBT）。比较 SEPT9与 FOBT 以及二者联合诊断的灵敏度和特异度及 ROC 曲线下面积。结果 SEPT9诊断病例组阳性率为 81.94% ，对照组阳性率为 16.39% ，差异具有统计学意义（P<0.05）；SEPT9甲基化检测结直肠癌的灵敏度和特异度分别为 81.94% 及 83.61% ；SEPT9和 FOBT 联合诊断结直肠癌的灵敏度和特异度分别为 93.06%及 77.05% ；ROC 曲线下面积：SEPT9和 FOBT 分别为 0.828和 0.674，而二者联合检测为 0.851。结论 外周血 SEPT9甲基化检测是 CRC 早期诊断的有效方法，SEPT9和 FOBT 联合检测可以提高诊断效能。

关键词： 结直肠癌；Septin9基因；甲基化

中图分类号： R735.2文献标志码： A 文章编号：2096-1413(2018)07-0001-03

Diagnostic evaluation of Septin9 methylated DNA detection in the screening of
colorectal cancer

LIYang 1,2 ,HUILing-yun 1 ,WANG Ya-wen 1,3*
(1.Clinical Laboratory Department, the First A ffiliated Hospital of Xi`an Jiaotong University, Xi``an 710061;2. Clinical
Laboratory Department,Xi`an Central Hospital,Xi`an 710003;3.Biobank,the First Affiliated HospitalofXi`an Jiaotong
University, Xi`an 710061,China)

ABSTRACT:Objective To evaluate the diagnostic value of peripheral blood Septin9 gene (SEPT9) methylated DNA in col-orectal cancer(CRC)screening. Methods A total of 72 cases of colorectal cancer patients  were set as case group and 61cas-esofnon-colorectal cancer patient sorhealthy personswere set as control group.The definite diagnosis was made by the pathological diagnosis whcih was as the gold standard,and plasma SEPT9 methylation detection and FOBT were performed simultaneously. The sensitivity and specificity of the SEPT9,FOBT and the combination diagnosis of above two methods were compared and the areasunder ROC  curve were statistically analyzed. Results The positive rate of SEPT9 in thecase group was 81.94% ,anditwas16.39% in the control group,the difference was statistically significant (P<0.05).The sensitivity and specificity of SEPT9 methylation incolorectal cancer were81.94% and 83.61% respectively.The sensitivity and specificity of SEPT9 and FOBT combined diagnosisin colorectal cance rwere 93.06% and 77.05% respectively.The under-ROC curveareas of SEPT9 and FOBT were 0.828 and 0.674; however, the are aunder ROC curve of SEPT9 and FOBT combined diagno-siswas 0.851.Conclusion The detection of SEPT9 methylation in peripheralblood is an effective method for the earlydiag-nosis of CRC.Furthermore,combined detection of SEPT9 and FOBT can improve the diagnostic efficiency.                                                                                                                                                                                                                                                        KEYWORDS: colorectal cancer; Septin9 gene; methylation

 

参考文献：
[1] 彭伟 , 杨韵 , 刘韵霄 , 等 .microRNA 在结直肠癌中的研究及应用进展 [J]. 中国普外基础与临床杂志 ,2013,20(6):691-696.
[2]LIY,SONG L,GONG Y,etal.Detection ofcolorectalcancerby DNA methylation biomarker SEPT9:past,present and future[J].Biomark Med,2014,8(5):755-769.
[3]GOLAN M,M ABJEESH NJ.SEPT9_i1 isrequired forthe associat ionbetween HIF -1α and importin -1α to promote efficient nucleartranslocation [J].CellCycle,2013,12(14):2297-2308.                                                                                                                                                                                                                              [4]TOTH K,GALAMB O,SPISAK 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. 
[5] COPPEDE F. Epigenetic biomarkers of colorectal cancer: focus on DNA methylation[J].Cancer Lett,2014,342(2): 238-247.
[6] AHMED D,DANIELSEN SA,AAGESEN TH,et al.A tissue based comparative effectiveness analysis of biomarkers for early detection of colorectal tumors [J].Clin Transl Gastroenterol, 2012,3(12): e27.
[7] 陈纪飞 , 戴盛明 . 血浆甲基化 Septin9 基因 : 一个有潜力的结直肠癌早期筛查标志物 [J]. 分子诊断与治疗杂志 ,2017,9(2):132-136.
[8] 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):1756-1759.
[9]LAO VV,GRADY W M .Epigeneticsand colorectalcancer[J].NatRev GastroenterolHepatol,2011,8(12):686-700.
[10] CHURCH TR, WANDELL M , LOFTON-DAY C,etal. Prospective evaluation of methylated SEPT9 in plasma for detection of asymp tomatic colorectal cancer [J]. Gut, 2014,63(2): 317-325.
[11]JIN P,KANG Q,W ANG X,etal.Performance of a second generation methylated SEPT9 test in detecting color ectalneoplasm [J].J Gas-troenterol Hepatol, 2015,30(5): 830-833.
[12] 温蕾 , 冯义朝 , 杜夏 . SEPT9 基因甲基化在结直肠癌诊断中的研究进展 [J]. 胃肠病学 ,2017,22(6):381-384.
[13] LIEBERMAN DA. Clinicalpractice Screening forcolorectalcancer[J].N EnglJMed,2009,361(12):1179-1187.
[14]YANS,LIU Z,YU S,etal. Diagnostic  value of methylated Septin 9 forcolorectal cancer screening: a meta-analysis[J].Med Sci Monit, 2016(22): 3409-3418.