陈静, 方志伟, 孙燕, 薛瑞峰, 孙保存, 牛瑞芳, 杨毅, 冯玉梅, 滕胜, 马育林. EWS-ATF1融合基因在透明细胞肉瘤中的表达及其诊断意义[J]. 中国肿瘤临床, 2008, 35(4): 198-201.
引用本文: 陈静, 方志伟, 孙燕, 薛瑞峰, 孙保存, 牛瑞芳, 杨毅, 冯玉梅, 滕胜, 马育林. EWS-ATF1融合基因在透明细胞肉瘤中的表达及其诊断意义[J]. 中国肿瘤临床, 2008, 35(4): 198-201.
CHEN Jing, FANG Zhi-wei, SUN Yan, XUE Rui-feng, SUN Bao-cun, NIU Rui-fang, YANG Yi, FENG Yu-mei, TENG Sheng, MA Yu-lin. Expression and Diagnostic Value of the EWS-ATF1 Fusion Gene in Clear Cell Sar-coma[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2008, 35(4): 198-201.
Citation: CHEN Jing, FANG Zhi-wei, SUN Yan, XUE Rui-feng, SUN Bao-cun, NIU Rui-fang, YANG Yi, FENG Yu-mei, TENG Sheng, MA Yu-lin. Expression and Diagnostic Value of the EWS-ATF1 Fusion Gene in Clear Cell Sar-coma[J]. CHINESE JOURNAL OF CLINICAL ONCOLOGY, 2008, 35(4): 198-201.

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 Sar-coma

  • 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。

     

    Abstract: Objective: To assess the feasibility of detecting the EWS-ATF1 fusion gene and chimeric mRNA inparaffin-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 from 26 cases of CCS and 20 cases of other tumor types were col-lected. EWS-ATF1 fusion transcripts were detected by nested RT-PCR and RT-PCR. β -actin and β 2 -microglobulin wereused as internal controls. The expression of S-100 and HMB-45 was detected by SP immunohistochemistry in the forma-lin-fixed, paraffin-embedded tumor tissues. Results: Of the clear cell sarcoma samples, 22/26 had detectable expressionof β -actin and 24/26 had detectable expression of β 2 -microglobulin. EWS-ATF1 fusion transcripts were positive in 20(16type Ⅰ cases, 0 type Ⅱ cases, 4 type Ⅲ cases) of the 24 CCS cases with detectable β 2 -microglobulin expression. NoEWS-ATF1 mRNA expression was detected in the 20 control samples. The general expression rate of S-100 and HMB-45was 79.2% and 70.8%, respectively. Conclusion: Detection of the EWS-ATF1 fusion gene in formalin-fixed paraffin-embedded materials by nested RT-PCR and RT-PCR is feasible. EWS-ATF1 can be used as a diagnostic index for thediagnosis and differential diagnosis of CCS.

     

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