EWS-ATF1融合基因在透明细胞肉瘤中的表达及其诊断意义  

Expression and Diagnostic Value of the EWS-ATF1 Fusion Gene in Clear Cell Sarcoma

作　　者：陈静[1] 方志伟[2] 孙燕[3] 薛瑞峰[1] 孙保存[3] 牛瑞芳[4] 杨毅[4] 冯玉梅[4] 滕胜[1] 马育林[1] 

机构地区：[1]天津市肿瘤防治重点实验室 天津医科大学附属肿瘤医院骨与软组织肿瘤科,天津市300060 [2]北京肿瘤医院骨与软组织肿瘤科 [3]北京肿瘤医院病理科 [4]北京肿瘤医院中心实验室

出　　处：《中国肿瘤临床》2008年第4期198-201,共4页Chinese Journal of Clinical Oncology

基　　金：国家自然科学基金资助(编号:30572097)

摘　　要：目的:探讨在透明细胞肉瘤(CCS)石蜡包埋组织中检测EWS-ATF1融合基因的可行性及EWS-ATF1融合基因表达在透明细胞肉瘤诊断中的意义。方法:收集1992年～2006年期间确诊的26例CCS石蜡包埋组织标本,20例非CCS石蜡包埋组织标本为对照组,β-肌动蛋白和β2微球蛋白作为内参照,用逆转录聚合酶链反应(RT-PCR)和巢式PCR检测EWS-ATF1融合基因的表达;过氧化物酶染色(SP)方法对26例CCS石蜡组织标本进行免疫组化染色,检测S-100、HMB-45蛋白的表达。结果:26例标本中,有22例β-肌动蛋白阳性;24例β2微球蛋白阳性,其中20例EWS-ATF1融合基因阳性(16例EWS-ATF1Ⅰ型,4为EWS-ATF1Ⅲ型),余4例EWS-ATF1融合基因阴性。对照组均未检测到EWS-ATF1融合基因的表达。26例CCS石蜡组织标本中S-100及HMB-45的总阳性率分别为79.2%和70.8%。结论:在CCS石蜡包埋组织中运用RT-PCR检测EWS-ATF1融合基因是可行的,可作为辅助诊断和鉴别诊断的有力工具。Objective： To assess the feasibility of detecting the EWS-ATF1 fusion gene and chimeric mRNA in paraffin-embedded clear cell sarcoma （CCS） tissues and to investigate its significance in the diagnosis of CCS. Methods： From 1992 to 2006, paraffin-embedded tumor tissues fi＇om 26 cases of CCS and 20 cases of other tumor types were collected. EWS-ATF1 fusion transcripts were detected by nested RT-PCR and RT-PCR. β-actin and β-2microglobulin were used as internal controls. The expression of S-100 and HMB-45 was detected by SP immunohistochemistry in the formalin-fixed, paraffin-embedded tumor tissues. Results： Of the clear cell sarcoma samples, 22/26 had detectable expression of β-actin and 24/26 had detectable expression of β2-microglnbulin. EWS-ATFI fusion transcripts were positive in 20（16 type Ⅰ eases, 0 type Ⅱ cases, 4 type Ⅲ cases） of the 24 CCS cases with detectable β2-microglobulin expression. No EWS-ATF1 mRNA expression was detected in the 20 control samples. The general expression rate of S-100 and HMB-45 was 79.2% and 70.8%, respectively. Conclusion： Detection of the EWS-ATFI fusion gene in formalin-fixed paraffin-embedded materials by nested RT-PCR and RT-PCR is feasible. EWS-ATFI can be used as a diagnostic index for the diagnosis and differential diagnosis of CCS.

关 键 词：透明细胞肉瘤 RT-PCR EWS-ATF1融合基因 诊断 

分 类 号：R730.4[医药卫生—肿瘤]