中国癌症杂志
中國癌癥雜誌
중국암증잡지
CHINA ONCOLOGY
2014年
3期
161-165
,共5页
TWIST1基因%膀胱肿瘤%尿细胞学检测%甲基化
TWIST1基因%膀胱腫瘤%尿細胞學檢測%甲基化
TWIST1기인%방광종류%뇨세포학검측%갑기화
TWIST1%Bladder tumor%Cytology test%Methylation
背景与目的：众多遗传学及表观遗传性的改变引发癌基因的激活剂抑癌基因的失活是膀胱肿瘤发生、发展的重要原因，本研究旨在揭示膀胱肿瘤患者肿瘤组织及尿液标本TWIST1基因的甲基化模式。方法：78例经病理确诊的膀胱肿瘤标本、癌旁正常组织及配对75例尿液标本组成实验组，75例年龄及性别比例匹配的非肿瘤个体组成对照组。从肿瘤、癌旁及尿液标本提取DNA，甲基化特异性聚合酶链反应(methylation-specific polymerase chain reaction，MSP)检测肿瘤组织、癌旁组织及尿液标本中TWIST1基因的甲基化水平，检测结果与尿细胞学检测结果进行对比，比较两种检测方法的灵敏度及特异度。结果：甲基化检测结果显示，88.5%的肿瘤标本及84.0%的尿液标本出现TWIST1基因的甲基化，11.5%的癌旁正常组织及5.3%的对照尿液标本出现甲基化。尿细胞学检测结果显示，49.3%的肿瘤患者尿液标本检测出瘤细胞，17.3%的对照者被诊断为肿瘤或疑似肿瘤。尿液标本甲基化检测灵敏度及特异度显著高于尿细胞学检测方法。针对低级别肿瘤， TWIST1基因甲基化检测灵敏度为66.7%，高于尿细胞学检测(33.3%)。结论：TWIST1基因甲基化水平检测可作为一种简单、非侵入、敏感及特异的方法应用于早期膀胱肿瘤诊断筛查。
揹景與目的：衆多遺傳學及錶觀遺傳性的改變引髮癌基因的激活劑抑癌基因的失活是膀胱腫瘤髮生、髮展的重要原因，本研究旨在揭示膀胱腫瘤患者腫瘤組織及尿液標本TWIST1基因的甲基化模式。方法：78例經病理確診的膀胱腫瘤標本、癌徬正常組織及配對75例尿液標本組成實驗組，75例年齡及性彆比例匹配的非腫瘤箇體組成對照組。從腫瘤、癌徬及尿液標本提取DNA，甲基化特異性聚閤酶鏈反應(methylation-specific polymerase chain reaction，MSP)檢測腫瘤組織、癌徬組織及尿液標本中TWIST1基因的甲基化水平，檢測結果與尿細胞學檢測結果進行對比，比較兩種檢測方法的靈敏度及特異度。結果：甲基化檢測結果顯示，88.5%的腫瘤標本及84.0%的尿液標本齣現TWIST1基因的甲基化，11.5%的癌徬正常組織及5.3%的對照尿液標本齣現甲基化。尿細胞學檢測結果顯示，49.3%的腫瘤患者尿液標本檢測齣瘤細胞，17.3%的對照者被診斷為腫瘤或疑似腫瘤。尿液標本甲基化檢測靈敏度及特異度顯著高于尿細胞學檢測方法。針對低級彆腫瘤， TWIST1基因甲基化檢測靈敏度為66.7%，高于尿細胞學檢測(33.3%)。結論：TWIST1基因甲基化水平檢測可作為一種簡單、非侵入、敏感及特異的方法應用于早期膀胱腫瘤診斷篩查。
배경여목적：음다유전학급표관유전성적개변인발암기인적격활제억암기인적실활시방광종류발생、발전적중요원인，본연구지재게시방광종류환자종류조직급뇨액표본TWIST1기인적갑기화모식。방법：78례경병리학진적방광종류표본、암방정상조직급배대75례뇨액표본조성실험조，75례년령급성별비례필배적비종류개체조성대조조。종종류、암방급뇨액표본제취DNA，갑기화특이성취합매련반응(methylation-specific polymerase chain reaction，MSP)검측종류조직、암방조직급뇨액표본중TWIST1기인적갑기화수평，검측결과여뇨세포학검측결과진행대비，비교량충검측방법적령민도급특이도。결과：갑기화검측결과현시，88.5%적종류표본급84.0%적뇨액표본출현TWIST1기인적갑기화，11.5%적암방정상조직급5.3%적대조뇨액표본출현갑기화。뇨세포학검측결과현시，49.3%적종류환자뇨액표본검측출류세포，17.3%적대조자피진단위종류혹의사종류。뇨액표본갑기화검측령민도급특이도현저고우뇨세포학검측방법。침대저급별종류， TWIST1기인갑기화검측령민도위66.7%，고우뇨세포학검측(33.3%)。결론：TWIST1기인갑기화수평검측가작위일충간단、비침입、민감급특이적방법응용우조기방광종류진단사사。
Background and purpose: Accumulation of genetic and epigenetic changes that lead to the activation of proto-oncogenes or inactivation of tumor suppressor genes play important roles in development and progression of bladder cancer. We aimed to investigate the methylation patterns of TWIST1 gene in bladder cancer. Methods:A total number of 78 histologically conifrmed bladder tumor samples and paired 75 urine samples constituted the study group and was compared with 75 age-matched and gender-matched non-cancerous individuals. DNA was puriifed from both tumor, adjacent tissues and urine samples. The methylation status of the TWIST1 gene was analyzed by methylation-specific polymerase chain reaction (MSP) in both urinary bladder cell carcinoma samples, adjacent tissues and urine samples. Sensitivity and speciifcity values of the method were assessed and compared with the results of the cytology test. Results:Methylation of TWIST1 was detected in 88.5%of carcinoma samples and 84%of the paired urine samples,respectively;11.5%carcinoma adjacent tissues and 5.3%control urine sample was methylated. The sensitivity by urine cytology detection method was 49.3%in in bladder cancer patients, and was 17.3%in control group. The sensitivity of TWIST1 genes was 66.7%for low-grade cases. The sensitivity of urine cytology was 33.3%for the same low-grade cases. Conclusion:The methylation analysis of TWIST1 gene may be a simple, non-invasive, sensitive, and speciifc method for early detecting bladder cancer cells in urine.
