简介：Colorectalcarcinoma(CRC)isacommoncauseofmorbidityandmortalityworldwide.TwopathogenicpathwaysareinvolvedinthedevelopmentofadenomatoCRC.ThefirstpathwayinvolvesAPC/β-catenincharacterizedbychromosomalinstabilityresultingintheaccumulationofmutations.ThesecondpathwayischaracterizedbylesionsinDNAmismatchrepairgenes.AberrantDNAmethylationinselectedgenepromotershasemergedasanewepigeneticpathwayinCRCdevelopment.CRCscreeningisthemostefficientstrategytoreducedeath.SpecificDNAmethylationeventsoccurinmultistepcarcinogenesis.EpigeneticgenesilencingisacausativefactorofCRCdevelopment.DNAmethylationshavebeenextensivelyexaminedinstoolfromCRCandprecursorlesions.ManymethylatedgeneshavebeendescribedinCRCandadenoma,althoughnodefiniteDNAmethylationbiomarkerspanelhasbeenestablished.MultipleDNAmethylationbiomarkers,includingsecretedfrizzled-relatedprotein2,secretedfrizzled-relatedprotein1,tissuefactorpathwayinhibitor2,vimentin,andmethylguanineDNAmethyltransferase,havebeenfurtherinvestigated,andobservationshaverevealedthatDNAmethylationbiomarkersexhibitwithhighsensitivityandspecificity.ThesemarkersmayalsobeusedtodiagnoseCRCandadenomainearlystages.Realtimepolymerasechainreaction(qPCR)issensitive,scalable,specific,reliable,timesaving,andcosteffective.Stoolexfoliatedmarkersprovideadvantages,includingsensitivityandspecificity.AstoolqPCRmethylationtestmayalsobeanenhancedtoolforCRCandadenomascreening.

简介：目的：探讨小汗腺螺旋腺癌的诊断和治疗方法。方法：报道1例右下肢小汗腺螺旋腺癌,探讨小汗腺螺旋腺癌的诊治。结果：患者为67岁老年女性,因发现右下肢肿块进行性增大就诊,2015年6月4日手术切除病灶,术后病理确诊为小汗腺螺旋腺癌。患者术后全身PET/CT提示右髂血管旁及右侧腹股沟淋巴结转移,术后尝试＂mFOLFOX＂方案化疗。但患者分别于2015年8月31日及2015年12月23日因发现肿瘤局部复发而行减瘤手术。术后患者因体质弱,未再继续行抗肿瘤治疗,行最佳对症支持治疗,于2016年7月21日死亡。结论：小汗腺螺旋腺癌临床表现常缺乏特异性,需由组织病理确诊,大范围手术切除是其首选治疗方式,目前仍无公认的化放疗方法,预后极差,生存期短。