无创性结直肠癌生物标志物概要

A summary of biomarkers for colorectal cancer noninvasive detection

结直肠癌(colorectal cancer,CRC)是一种全球常见的恶性肿瘤,其早期症状不明显,因而容易被患者忽视,当患者出现症状时往往已是晚期。因此,有效的筛查方案可使结直肠癌的死亡率明显下降。目前临床上粪便隐血试验(fecal occult blood test,FOBT)和内镜检查仍然是结直肠癌最主要的筛查方法。近年来,关于结直肠癌遗传学和表观遗传学改变的报道越来越多,各种结直肠癌相关标志物如基因突变、micro RNA、循环肿瘤DNA、干细胞和蛋白质表达检测为结直肠癌的早期诊断开辟了新途径。随着临床研究的进展,生物标志物检测对结直肠癌的诊断和治疗效果的评估起到重要辅助作用。鉴于结直肠癌相关生物标志物很多,可把它们大体分为有创性和无创性2大类。本文根据文献对无创性结直肠癌相关标志物的临床应用价值、检测的难易度和不足进行简要概括。

Colorectal cancer （CRC） is a common type of malignancy worldwide. The early stage is asymptomatic, thus it tends to be ignored by patients and typically develops into the advanced stage before any symptoms occur. Henceforth, efficacious screening strategies would be very helpful in the effort to reduce the mortality of CRC. The fecal occult blood test （FOBT） and endoscopy currently used in the clinic are 2 major tools in CRC screening. Recently, more and more evidences regarding the changes in genetics and epigenetics of CRC have been reported. Analysis of various biomarkers, such as the mutation of CRC associated genes, microRNAs, circulating tumor DNA, stem cells, and protein markers have provided new methods for diagnosing CRC. As the clinical research advanced, the detection of biomarkers has become very helpful in CRC diagnosis and prognosis. Since numerous CRC related biomarkers have been reported, the biomarkers for CRC are categorized into 2 major types in this summary： invasive and noninvasive. The noninvasive CRC biomarkers are summarized here, and their clinical application values, ease of detection, and disadvantages are also briefly evaluated based on literature research.