结直肠癌患者外周血cf-时dna检测及其应用价值初探.docx

外周血cf—DNA浓度检测结合高通量外显子测序可能用于结直肠癌的辅助诊断， 外周血cf—DNA浓度检测结合高通量外显子测序可能用于结直肠癌的辅助诊断， 但还需要扩大样本量及进一步实验研究。PTEN的缺失、突变可能与结肠癌发生相关， NOK可能在结肠癌的发生、发展过程中有一定作用，值得后续进一步实验研究其分 子机理及临床应用前景。 关键词 结直肠癌，外周血游离DNA，PTEN，NOK，早期诊断 4 万方数据 AbstractBackground Abstract Background Colorectal cancer(CRC)is one of the most common cancers in the workl．With the change of living habits and diet structure and the acceleration of the a星血g process of population,the incidence of coIorectal cancer in China shows an upward缸．end iIl recent years·Early diagnosis of colorectal cancer is very important for detecting,treating arid mlproVmg the prognoms ofpatients in time．However,there are still many difficulties in the early diagnosis ofcolorectal cancer．Serum tumor marker detection is one ofthe nlDst common methods for early detection of colorectal cancer,but its sensitivitv and specificity are not SO ideal．In recent years，peripheral bbod cf-DNA plays an i1I驴onant role m early diagnosis ofcolorectal cancer as a new tumor marker．In this s伽Ⅵcf-DNA IS extracted tiom peripheral blood ofpatients along with turret tissue DNA for cf-DNA concen倾tlon detection,exome sequencing and bioinformatics analysis．trying to find out the related loci for early diagnosi ofcolorectal cancer．The expression ofPTEN and NOK m coclrectal carcinoma and adjacent normal t远sue is studied by immunohistochemical staining，in order to find out whether there is a correlation between the expression of PTEN／NOK and the differentiation degree oftumor． Methods 1·This study recruits patients with ulcerative colitis(UC)，cobrectal adeno“la，earlv cancer and advanced cancer visiting PUMC硒m 2015．9 to 2016．5，collecting pnmary turnor speclments and adjacent normal tissues by colonoscopy or surgery along with peripheral blood．Tumor speciments and adjacent norn】a1 tissues were collected m pairs in the same patient．DNA were extracted from each speciment and the purified， fragmented， arnplificated and captured for cf-DNA concentration detection and ex01Tie sequencing