中文摘要：

目的 确定前列腺癌人群中ETS家族常见成员基因ERG、ETV1、ETV4和ETV5重排的发生频度；分析ERG基因重排与常见临床及分子病理学指标的关联；验证ERG过表达是否促进前列腺癌细胞上皮间质转化（EMT）。方法 荧光原位杂交技术（FISH）检测128例前列腺癌患者肿瘤组织中ERG、ETV1、ETV4和ETV5基因的重排和PTEN基因的缺失；免疫组织化学PV-9000二步法检测前列腺癌组织中雄激素受体（AR） 及转录因子SOX4的表达；采用siRNA、Real-time PCR和Western blot检测ERG与前列腺癌细胞EMT的关联。结果 ERG在前列腺癌人群中重排发生率为23% （25/108），其中60%（15/25）的ERG重排患者伴有ERG 5’ 端的缺失。ETV1、ETV4和ETV5的重排发生率分别为2% （2/109）、 1%（1/103）和0%。ERG基因重排与肿瘤远处转移呈正相关（P〈0.05），但与Gleason 评分、术前PSA水平及肿瘤临床分期等无关联。ERG基因重排与PTEN基因的缺失、SOX4蛋白的表达均呈正相关（P〈0.05），但与AR的表达未见相关性；体外实验显示，干扰ERG的表达可抑制前列腺癌Vcap细胞EMT的发生。结论 ERG基因重排在我国前列腺癌患者中的发生频率较西方国家低。ERG基因重排与EMT相关，并可能与其他基因协同发挥促癌作用。

英文摘要：

Objective To determine the frequency of ETS （ERG, ETV1, ETV4 and ETV5） gene rearrangement, analyze the relationship between ERG rearrangement and prove whether ERG overexpression can promote the epitheial-mesenchymal transition （EMT） process. Methods Fluorescence in situ hybridization （FISH） was performed to validate the ETS gene aberrations and PTEN deletions of 128 PCa patients. Expression of androgen receptor （AR） and SOX4 was evaluated by using PV-9000 two-step immunohistochemistry method. SiRNA、Real-time PCR and western blot were utilized to study the link between ERG aberration and EMT in PCa in vitro. Results Overall,ERG rearrangement was present in 23% （25/108） cases, of which 60% （15/25） showed deletion of the 5’end of ERG. Rearrangement of ETV1,ETV4 and ETV5 occurred in 2% （2/109）, 1%（1/103） and 0% cases, respectively. ERG rearrangement was positively associated with tumor distant metastasis （P〈0.05）, but not with Gleason score, preoperative PSA values and clinical tumor staging. Significant positive correlations were noted between ERG rearrangement and PTEN deletion as well as SOX4 protein overexpression （P〈0.05）, but not with AR expression. In vitro study revealed that ERG silencing could inhibit EMT in Vcap cells. Conculsion The freqneucy of ERG rearrangement is significantly lower in China than that in western countries. ERG rearrangement is associated with EMT, and may cooperate with other genes to promote cancer development.