软组织肉瘤15例融合基因检测及临床应用价值分析  

Detection of fusion gene in 15 cases of soft tissue sarcoma and its significance in clinical practice

作　　者：肖颖[1] 王旭洲[2] 陈实[3] 林煜[4] 吴婺松 詹炳汇[1] 

机构地区：[1]厦门大学附属福州市第二医院病理科,福州350007 [2]南京军区福州总院病理科 [3]南京军区福州总院神经外科 [4]南京军区福州总院骨科

出　　处：《福建医药杂志》2016年第6期96-99,共4页Fujian Medical Journal

基　　金：福州市科技计划项目(2014-S-137-7)

摘　　要：目的探讨软组织肉瘤SSX-SYT、PAX-FKHR及EWS-FLI1/ERG融合基因表达及意义,建立适用于临床的分子病理诊断方法。方法运用FISH技术对经固定、石蜡包埋的15例软组织肉瘤SSX-SYT、PAX-FKHR及EWSFLI1/ERG融合基因表达进行检测。结果 5例滑膜肉瘤SSX-SYT均阳性(100%);5例横纹肌肉瘤PAX-FKHR阳性3例(60%);5例尤文氏肉瘤EWS-FLI1/ERG均阳性(100%)。对照组均为阴性。结论该检测对软组织肉瘤具有早期诊断、分类和鉴别诊断价值,对疾病治疗和预后判定有重要意义。Objective To explore the expression and diagnostic significance of SSX-SYT, PAX-FKHR and EWS-FLI1/ ERG in soft tissue sarcoma and to establish a molecular diagnostic method for clinical diagnosis. Methods The SSX-SYT, PAX-FKHR and EWS-FLI1/ERG fusion genes were conducted with FISH technique in the 15 cases of fixed and paraffin embedded soft tissue sarcoma. Results Contrast to the control group, SSX-SYT was positive in 5 cases （5/5） of synovial sarcoma, PAX-FKHR was positive in 3 cases （3/5） of rhabdomyosarcoma, EWS-FLI1/ERG was positive in 5 cases （5/5） of Ewing＇s sarcoma. Conclusion The detection achieves early diagnosis, makes more accurate identification and classification in soft tissue sarcoma, and would be of great significance in the judgement of the clinical prognosis and the response to treatment.

关 键 词：软组织肉瘤 融合基因 荧光原位杂交 病理鉴别 

分 类 号：R738.6[医药卫生—肿瘤]