EWS易位分离探针荧光原位杂交和免疫组织化学抗体(FLI-1和CD99)在尤文肉瘤/原始神经外胚层肿瘤诊断中的价值  

Application of the in situ hybridization with EWS dual-color break-apart fluorescence probe and anti-CD99 and anti-FLI-1 antibodies in the diagnosis of Ewing's sarcoma/primitive neuroectodermal tumor

作　　者：刘宝岳[1] 杨郁[1] 杜娟[1] 张燕[1] 王华[1] 郑杰[1] 

机构地区：[1]北京大学基础医学院病理学系

出　　处：《北京大学学报（医学版）》2008年第4期358-362,共5页Journal of Peking University:Health Sciences

基　　金：国家重点基础研究发展规划项目(2002CB513100)资助~~

摘　　要：目的:评价EWS易位分离探针荧光原位杂交(fluorescence in situ hybridization,FISH)与免疫组化抗体CD99、FLI-1对尤文肉瘤/原始神经外胚层肿瘤(Ewing’s sarcoma/primitive neuroectodermal tumor,EWS/PNET)的诊断价值。方法:收集35例EWS/PNET和其他小圆细胞肿瘤24例,应用FISH检测EWS基因易位、免疫组化抗体CD99和FLI-1的表达,进行对比研究,评价各自及联合应用的诊断价值。结果:FISH检测在EWS/PNET的敏感性、特异性、阳性预期值和阴性预期值分别为93.8%(30/32)、81.8%(18/22)、88.2%(30/34)和90%(18/20);CD99分别为100%(35/35)、58.3%(14/24)、77.8%(35/45)和100%(14/14);FLI-1分别为71.4%(25/35)、62.5%(15/24)、73.5%(25/34)和60%(15/25)。不同指标两两联合应用敏感性、特异性和阳性预期值、阴性预期值为:CD99+FLI-1分别为71.4%(25/35)、75%(18/24)、80.6%(25/31)和64.3%(18/28);FLI-1+FISH分别为68.7%(22/32)、86.4%(19/22)、88%(22/25)和65.5%(19/29),CD99+FISH分别为93.8%(30/32)、95.5%(21/22)、96.8%(30/31)和91.3%(21/23)。结论:应用EWS基因易位分离探针FISH检测染色体易位,是辅助诊断EWS/PNET非常敏感和特异的分子指标,与CD99联合应用诊断价值最大。在缺乏FISH结果的情况下,FLI-1和CD99联合应用能够提高诊断的特异性。Objective：To investigate the value of using EWS dual-color, break-apart rearrangement probe fluorescence in situ hybridization （FISH） technique, CD99 and FLI-1 antibodies immunohistochemistry in the diagnosis of Ewing＇ s sarcoma/primitive neuroectodermal tumor （EWS/PNET）. Methods：Thirty-five cases of EWS/PNET and 24 cases of non-EWS/PNET small round cell tumor were analyzed by FISH and immunohistochemically detected with FLI-1 and CD99 antibodies. Comparison between FISH and immunohistochemical results was carried out and their diagnostic value was evaluated. Results： The sensitivity, specificity, positive predictive value and negative predictive value of FISH in EWS/PNET were 93.8% （30/32）, 81.8% （ 18/22）, 88.2% （30/34） and 90% （18/20） ; those of CI）99 were 100% （35/35）, 58.3% （14/24）, 77.8% （35/45） and 100% （14/14）; those of FLI-1 were 71.4% （25/35）, 62. 5% （ 15/24）, 73.5% （25/34）, 60% （ 15/25 ）, respectively. The sensitivity, specificity, positive predictive value and negative predictive value of combined use of CD99 and FLI- 1 were 71.4% （25/35）, 75% （ 18/24）, 80. 6% （25/31） and 64. 3% （ 18/28）, those of combined use of FLI-1 and FISH were 68.7% （22/32）, 86. 4% （ 19/22）, 88 % （22/25） and 65.5 % （ 19/29）, those of combined use of CD99 and FISH were 93.7% （30/32）, 95.5% （21/22）, 96. 8% （30/31） and 91.3% （21/23） , respectively. Conclusion： EWS dual-color, break-apart rearrangement probe FISH is a highly sensitive and specific technique in the diagnosis of EWS/PNET. The combination of CD99 and FISH is the method of choice for the diagnosis of EWS/PNET. The combination of CD99 and FLI-1 can improve the specificity in EWS/PNET without the data of FISH.

关 键 词：肉瘤 Ewing 神经外胚瘤 原始 原位杂交 荧光 免疫组织化学 诊断 

分 类 号：R738.6[医药卫生—肿瘤]