This review article summarizes the research advances of the plasma-based SEPT9 gene methylation assay for the clinical detection of colorectal cancer and its limitations. Colorectal cancer is a common malignancy with ...This review article summarizes the research advances of the plasma-based SEPT9 gene methylation assay for the clinical detection of colorectal cancer and its limitations. Colorectal cancer is a common malignancy with a poor prognosis and a high mortality, for which early detection and diagnosis are particularly crucial for the high-risk groups. Increasing evidence supported that SEPT9 gene methylation is associated with the pathogenesis of colorectal cancer and that detecting the level of methylation of SEPT9 in the peripheral blood can be used for screening of colorectal cancer in susceptible populations. In recent years, the data obtained in clinical studies demonstrated that the SEPT9 gene methylation assay has a good diagnostic performance with regard to both sensitivity and specificity with the advantage of better acceptability, convenience and compliance with serological testing compared with fecal occult blood tests and carcinoembryonic antigen for colorectal cancer(CRC). Furthermore, the combination of multiple methods or markers has become a growing trend for CRC detection and screening. Nevertheless, the clinical availability of the methylated SEPT9 assay is still limited because of the large degree of sample heterogeneity caused by demographic characteristics, pathological features, comorbidities and/or technique selection. Another factor is the cost-effectiveness of colorectal cancer screening strategies that hinders its large-scale application. In addition, improvements in its accuracy in detecting adenomas and premalignant polyps are required.展开更多
目的探讨血清代替血浆检测SEPT9基因甲基化在结直肠癌（CRC）诊断中的价值。方法收集70例CRC患者、38例腺瘤或息肉患者及15例其他肠道疾病患者血清样本。用Epi pro Colon 2.0试剂盒进行SEPT9基因甲基化检测,依据肠镜病理诊断进行验证,比...目的探讨血清代替血浆检测SEPT9基因甲基化在结直肠癌（CRC）诊断中的价值。方法收集70例CRC患者、38例腺瘤或息肉患者及15例其他肠道疾病患者血清样本。用Epi pro Colon 2.0试剂盒进行SEPT9基因甲基化检测,依据肠镜病理诊断进行验证,比较SEPT9、癌胚抗原（CEA）和粪便潜血试验（FOBT）的敏感性和特异性,并进行统计学分析。结果 CRC患者血清SEPT9的阳性率（81.4%）明显高于对照组（13.2%）,差异有统计学意义（χ2=92.814,P〈0.01）。CRC患者血清SEPT9的敏感性为81.4%（95%CI：72.4%-90.4%）、特异性为86.7%（95%CI：72.4%-100%）。临床分期为Ⅰ期的CRC患者SEPT9阳性率为42.9%,Ⅱ期为88.9%,Ⅲ期为82.4%,Ⅳ期为100%,差异有统计学意义（χ2=16.572,P〈0.01）。SEPT9的ROC曲线下面积（AUCROC）为0.841,明显高于CEA（0.716）和FOBT（0.792）。3者联合检测AUCROC可达0.935。结论血清SEPT9基因甲基化的检测是早期诊断CRC的有效方法,联合检测CEA及FOBT可以提高诊断效能。展开更多
Colorectal cancer(CRC) has become the third most common cancer in the world. Screening has been shown to be an effective way to identify early CRC and precancerous lesions, and to reduce its morbidity and mortality. S...Colorectal cancer(CRC) has become the third most common cancer in the world. Screening has been shown to be an effective way to identify early CRC and precancerous lesions, and to reduce its morbidity and mortality. Several types of noninvasive tests have been developed for CRC screening, including the fecal occult blood test(FOBT), the fecal immunochemical test(FIT), the fecal-based DNA test and the bloodbased DNA test(the SEPT9 assay). FIT has replaced FOBT and become the major screening test due to high sensitivity, specificity and low costs. The fecal DNA test exhibited higher sensitivity than FIT but its current cost is high for a screening assay. The SEPT9 assay showed good compliance while its performance in screening needs further improvements. These tests exhibited distinct sensitivity and specificity in screening for CRC and adenoma. This article will focus on the performance of the current noninvasive in vitro diagnostic tests that have been used for CRC screening. The merits and drawbacks for these screening methods will also be compared regarding the techniques, usage and costs. We hope this review can provide suggestions for both the public and clinicians in choosing the appropriate method for CRC screening.展开更多
文摘This review article summarizes the research advances of the plasma-based SEPT9 gene methylation assay for the clinical detection of colorectal cancer and its limitations. Colorectal cancer is a common malignancy with a poor prognosis and a high mortality, for which early detection and diagnosis are particularly crucial for the high-risk groups. Increasing evidence supported that SEPT9 gene methylation is associated with the pathogenesis of colorectal cancer and that detecting the level of methylation of SEPT9 in the peripheral blood can be used for screening of colorectal cancer in susceptible populations. In recent years, the data obtained in clinical studies demonstrated that the SEPT9 gene methylation assay has a good diagnostic performance with regard to both sensitivity and specificity with the advantage of better acceptability, convenience and compliance with serological testing compared with fecal occult blood tests and carcinoembryonic antigen for colorectal cancer(CRC). Furthermore, the combination of multiple methods or markers has become a growing trend for CRC detection and screening. Nevertheless, the clinical availability of the methylated SEPT9 assay is still limited because of the large degree of sample heterogeneity caused by demographic characteristics, pathological features, comorbidities and/or technique selection. Another factor is the cost-effectiveness of colorectal cancer screening strategies that hinders its large-scale application. In addition, improvements in its accuracy in detecting adenomas and premalignant polyps are required.
文摘目的探讨血清代替血浆检测SEPT9基因甲基化在结直肠癌（CRC）诊断中的价值。方法收集70例CRC患者、38例腺瘤或息肉患者及15例其他肠道疾病患者血清样本。用Epi pro Colon 2.0试剂盒进行SEPT9基因甲基化检测,依据肠镜病理诊断进行验证,比较SEPT9、癌胚抗原（CEA）和粪便潜血试验（FOBT）的敏感性和特异性,并进行统计学分析。结果 CRC患者血清SEPT9的阳性率（81.4%）明显高于对照组（13.2%）,差异有统计学意义（χ2=92.814,P〈0.01）。CRC患者血清SEPT9的敏感性为81.4%（95%CI：72.4%-90.4%）、特异性为86.7%（95%CI：72.4%-100%）。临床分期为Ⅰ期的CRC患者SEPT9阳性率为42.9%,Ⅱ期为88.9%,Ⅲ期为82.4%,Ⅳ期为100%,差异有统计学意义（χ2=16.572,P〈0.01）。SEPT9的ROC曲线下面积（AUCROC）为0.841,明显高于CEA（0.716）和FOBT（0.792）。3者联合检测AUCROC可达0.935。结论血清SEPT9基因甲基化的检测是早期诊断CRC的有效方法,联合检测CEA及FOBT可以提高诊断效能。
基金Supported by The Beijing Municipal Science and Technology Project(capital public health project)No.Z151100003915092sponsored by the Beijing Municipal Science and Technology Commission
文摘Colorectal cancer(CRC) has become the third most common cancer in the world. Screening has been shown to be an effective way to identify early CRC and precancerous lesions, and to reduce its morbidity and mortality. Several types of noninvasive tests have been developed for CRC screening, including the fecal occult blood test(FOBT), the fecal immunochemical test(FIT), the fecal-based DNA test and the bloodbased DNA test(the SEPT9 assay). FIT has replaced FOBT and become the major screening test due to high sensitivity, specificity and low costs. The fecal DNA test exhibited higher sensitivity than FIT but its current cost is high for a screening assay. The SEPT9 assay showed good compliance while its performance in screening needs further improvements. These tests exhibited distinct sensitivity and specificity in screening for CRC and adenoma. This article will focus on the performance of the current noninvasive in vitro diagnostic tests that have been used for CRC screening. The merits and drawbacks for these screening methods will also be compared regarding the techniques, usage and costs. We hope this review can provide suggestions for both the public and clinicians in choosing the appropriate method for CRC screening.
