中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2008年
10期
669-673
,共5页
戴美洁%陈俐丽%郑彦博%陈伟%陶志华%翁志梁%吴秀玲%李澄棣%陈占国%陈晓东%石少波
戴美潔%陳俐麗%鄭彥博%陳偉%陶誌華%翁誌樑%吳秀玲%李澄棣%陳佔國%陳曉東%石少波
대미길%진리려%정언박%진위%도지화%옹지량%오수령%리징체%진점국%진효동%석소파
前列腺肿瘤%基因融合%逆转录聚合酶链反应%ETS%跨膜丝氨酸蛋白酶2
前列腺腫瘤%基因融閤%逆轉錄聚閤酶鏈反應%ETS%跨膜絲氨痠蛋白酶2
전렬선종류%기인융합%역전록취합매련반응%ETS%과막사안산단백매2
Prostatic neoplasms%Gene fusion%Reverse transcriptase polymerase chain reaction: ETS:TMPRSS2
目的 了解前列腺癌组织标本中跨膜丝氨酸蛋白酶2(TMPRSS2)基因与ETS转录因子家族成员ETS相关基因(ERG)、ETS变异体1(ETV1)及ETS变异体4(ETV4)基因之间的融合情况及意义.方法 采用巢式逆转录聚合酶链反应(RT-PCR)琼脂糖凝胶电泳法检测32例前列腺癌患者及34例前列腺良性增生患者前列腺组织中TMPRSS2基因与ETS家族基因融合的TMPRSS2/ERG、TMPRSS2/ETV1、TMPRSS2/ETV4转录体;琼脂糖凝胶电泳阳性者,纯化PCR产物进行直接测序,用BLAST在线软件比对确定融合位点;分析融合基因与Gleason分级关系.结果 在32例前列腺癌患者组织标本中,检测到TMPRSS2/ERG融合基因17例(53.1%),含5种不同融合基因亚型,其中1种为新发现融合基因亚型(GenBank登录号:EU090248),单一标本中可检测到1种以上TMPRSS2/ERG融合基因亚型;检测到TMPRSS2/ETV1融合基因2例(6.3%),为新发现融合基因亚型(GenBank 登录号:EU090249);未检到TMPRSS2/ETV4融合基因型.34例前列腺良性增生组织标本中均未检测到TMPRSS2/ERG、TMPRSS2/ETV1和TMPRSS2/ETV4融合基因型.按Gleason评分值分为中分化与低分化的两组前列腺癌组织标本之间融合基因阳性率差异无统计学意义(P=0.169).结论 前列腺癌组织中存在TMPRSS2/ERG和TMPRSS2/ETV1融合基因及多种亚型;前列腺癌融合基因的发现有望为前列腺癌的发病机制研究提供新的思路.
目的 瞭解前列腺癌組織標本中跨膜絲氨痠蛋白酶2(TMPRSS2)基因與ETS轉錄因子傢族成員ETS相關基因(ERG)、ETS變異體1(ETV1)及ETS變異體4(ETV4)基因之間的融閤情況及意義.方法 採用巢式逆轉錄聚閤酶鏈反應(RT-PCR)瓊脂糖凝膠電泳法檢測32例前列腺癌患者及34例前列腺良性增生患者前列腺組織中TMPRSS2基因與ETS傢族基因融閤的TMPRSS2/ERG、TMPRSS2/ETV1、TMPRSS2/ETV4轉錄體;瓊脂糖凝膠電泳暘性者,純化PCR產物進行直接測序,用BLAST在線軟件比對確定融閤位點;分析融閤基因與Gleason分級關繫.結果 在32例前列腺癌患者組織標本中,檢測到TMPRSS2/ERG融閤基因17例(53.1%),含5種不同融閤基因亞型,其中1種為新髮現融閤基因亞型(GenBank登錄號:EU090248),單一標本中可檢測到1種以上TMPRSS2/ERG融閤基因亞型;檢測到TMPRSS2/ETV1融閤基因2例(6.3%),為新髮現融閤基因亞型(GenBank 登錄號:EU090249);未檢到TMPRSS2/ETV4融閤基因型.34例前列腺良性增生組織標本中均未檢測到TMPRSS2/ERG、TMPRSS2/ETV1和TMPRSS2/ETV4融閤基因型.按Gleason評分值分為中分化與低分化的兩組前列腺癌組織標本之間融閤基因暘性率差異無統計學意義(P=0.169).結論 前列腺癌組織中存在TMPRSS2/ERG和TMPRSS2/ETV1融閤基因及多種亞型;前列腺癌融閤基因的髮現有望為前列腺癌的髮病機製研究提供新的思路.
목적 료해전렬선암조직표본중과막사안산단백매2(TMPRSS2)기인여ETS전록인자가족성원ETS상관기인(ERG)、ETS변이체1(ETV1)급ETS변이체4(ETV4)기인지간적융합정황급의의.방법 채용소식역전록취합매련반응(RT-PCR)경지당응효전영법검측32례전렬선암환자급34례전렬선량성증생환자전렬선조직중TMPRSS2기인여ETS가족기인융합적TMPRSS2/ERG、TMPRSS2/ETV1、TMPRSS2/ETV4전록체;경지당응효전영양성자,순화PCR산물진행직접측서,용BLAST재선연건비대학정융합위점;분석융합기인여Gleason분급관계.결과 재32례전렬선암환자조직표본중,검측도TMPRSS2/ERG융합기인17례(53.1%),함5충불동융합기인아형,기중1충위신발현융합기인아형(GenBank등록호:EU090248),단일표본중가검측도1충이상TMPRSS2/ERG융합기인아형;검측도TMPRSS2/ETV1융합기인2례(6.3%),위신발현융합기인아형(GenBank 등록호:EU090249);미검도TMPRSS2/ETV4융합기인형.34례전렬선량성증생조직표본중균미검측도TMPRSS2/ERG、TMPRSS2/ETV1화TMPRSS2/ETV4융합기인형.안Gleason평분치분위중분화여저분화적량조전렬선암조직표본지간융합기인양성솔차이무통계학의의(P=0.169).결론 전렬선암조직중존재TMPRSS2/ERG화TMPRSS2/ETV1융합기인급다충아형;전렬선암융합기인적발현유망위전렬선암적발병궤제연구제공신적사로.
Objective To investigate the frequencies and types of fusions between the transmembrane protease serine 2(TMPRSs2),ETS-related gene(ERG),ETS variant-1(ETV1),and ETS variant-4(ETV4)genes in prostate cancer(Pca)and significance thereof.Methods Biopsy samples of prostate were obtained under transrectal ultrasound(TRUS)from 32 Pca patients,aged(74 ± 8)and 34 patients with benign prostate hyperplasia(BPH).Nested RT-PCR and direct DNA sequencing were used to detect the fusion genes of TMPRSS2/ERG,TMPRSS2/ETV1,and TMPRSS2/ETV4.The association between the fusion-positive tumor rate and Gleason grading was analyzed.Results Of the 32 Pca patients,TMPRSS2/ERG fusion was detected in 17 cases(53.1%),including 5 variant fusion transcrips one of which was newly discovered with the GenBank accession number of EU090248.TMPRSS2/ETV1 fusion was detected in only 2 cases(6.3%),including one newly discovered variant fusion transcrips with the GenBank accession number of EU090249.TMPRSS2/ETW fusion was not detected.The positive rates of TMPRSS2/ERG and TMPRSS2/ETV1 fusions showed no statistical association with the Gleason grade(P=0.169).No fusion between the TMPRSS2 and ETS transcription factor genes was detected in the 34 BPH samples. Conclusion TMPRSS2/ERG and TMPRS22/ETV1 fusion genes with different subtypes exist in the tissues of Pca.TMPRSS2/ERG and TMPRSS2/ETV1 fusion genes may be used as diagnostic tools for Pca.
