结直肠癌患者外周血cf-dna检测及其应用价值初探

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1、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AbstractBackgroundColorectalcancer(CRC)isoneofthemostcommoncancersintheworkl．Withthechangeoflivinghabitsanddietstructurea

2、ndtheaccelerationofthea星血gprocessofpopulation,theincidenceofcoIorectalcancerinChinashowsanupward缸．endiIlrecentyears·Earlydiagnosisofcolorectalcancerisveryimportantfordetecting,treatingaridmlproVmgtheprognomsofpatientsintime．However,therearestillmanydifficultiesintheearlydiagnosis

3、ofcolorectalcancer．SerumtumormarkerdetectionisoneofthenlDstcommonmethodsforearlydetectionofcolorectalcancer,butitssensitivitvandspecificityarenotSOideal．Inrecentyears，peripheralbbodcf-DNAplaysani1I驴onantrolemearlydiagnosisofcolorectalcancerasanewtumormarker．Inthiss伽Ⅵcf-DNAISextra

4、ctedti'omperipheralbloodofpatientsalongwithturrettissueDNAforcf-DNAconcen倾tlondetection,exomesequencingandbioinformaticsanalysis．tryingtofindouttherelatedlociforearlydiagnosiofcolorectalcancer．TheexpressionofPTENandNOKmcoclrectalcarcinomaandadjacentnormalt远sueisstudiedbyimmunohis

5、tochemicalstaining，inordertofindoutwhetherthereisacorrelationbetweentheexpressionofPTEN／NOKandthedifferentiationdegreeoftumor．Methods1·Thisstudyrecruitspatientswithulcerativecolitis(UC)，cobrectaladeno“la，earlvcancerandadvancedcancervisitingPUMC硒m2015．9to2016．5，collectingpnmarytur

6、norspeclmentsandadjacentnormaltissuesbycolonoscopyorsurgeryalongwithperipheralblood．Tumorspecimentsandadjacentnorn】a1tissueswerecollectedmpairsinthesamepatient．DNAwereextractedfromeachspecimentandthepurified，fragmented，arnplificatedandcapturedforcf-DNAconcentrationdetectionandex0

7、1Tiesequencing,．2·ThisstudyrecruitspatientswithcolorectalcancerreceivedsurgeryinPUMC硒m2015．1-2016．6，takingnormalcobnicmucosaabove8cmfi-omadjacentcailceredgewithouthyperplasiaforselfcontr01．Thehostologicaldiagnosiswascon6rmedbvimmunohistochemicalstainingafterHEstaining．万方数据Results

8、Thisstudyrecruits19samples矗．om6patientsw