隆突性皮肤纤维肉瘤免疫表型和COL1A1/PDGFB融合基因的临床应用研究  

Clinical study of molecular markers and COL1A1/PDGFB fusion gene in dermatofibrosarcoma protuberans

作　　者：叶新青[1] 邝晓聪[2] 韦常宏[1] 黄俊琪[1] 叶洪涛[3] 

机构地区：[1]广西医科大学附属肿瘤医院病理科,南宁市530021 [2]广西医科大学基础医学院病理生理学教研室 [3]广西玉林市第一人民医院病理科

出　　处：《中国肿瘤临床》2015年第21期1042-1046,共5页Chinese Journal of Clinical Oncology

摘　　要：目的:探讨隆突性皮肤纤维肉瘤(dermatofibrosarcoma protuberans,DFSP)诊断中免疫表型和荧光原位杂交(fluorescence in situ hybridization,FISH)检测COL1A1/PDGFB融合基因的应用价值。方法:观察73例DFSP中免疫组织化学标记物vimentin、CD34、CD99、S100、desmin、SMA和FISH检测COL1A1/PDGFB融合基因的表达。选取85例非DFSP作为免疫组织化学的对照组,10例非DFSP作为FISH检测COL1A1/PDGFB融合基因的对照组。结果:vimentin、CD34、CD99、S100、desmin、SMA在73例DFSP中阳性率分别是100%、91.78%、61.64%、0、0、6.85%,在对照组中不同程度表达,其中CD34的表达在鉴别诊断中有意义。COL1A1/PDGFB融合基因在DFSP的阳性率为86.96%(60/69),对照组均阴性。结论:在DFSP的诊断中,COL1A1/PDGFB融合基因是DFSP较为特异性、敏感性的标记,而CD34是DFSP相对理想的标记。Objective： To investigate the values of immunophenotype and the Collagen typel alphal/Proto-oncogene Proteins c-sis （COL1A1/PDGFB） fusion gene in the diagnosis of dermatofibrosarcoma protuberans （DFSP）. Methods： IHC markers and the COL1A1/ PDGFB fusion gene were detected by IHC staining and interphase fluorescence in situ hybridization （FISH） in 73 cases previously diagnosed as DFSP. A total of 85 and 10 non-DFSP cases were also included as controls for IHC staining and FISH, respectively. Results： In the 73 DFSP cases, the positive detection rates for immunohistochemical marker vimentin, CD34, CD99, $100, desmin and SMA were 100%, 91.78%, 61.64%, 0, 0, and 6.85%, correspondingly. Protein expression levels in these cases varied from the control group, and CD34 ex- pression was significantly different among the differential diagnoses. The positive detection rate for the COL1A1/PDGFB fusion gene was 86.96% （60/69）, whereas the gene expression in the control group was negative. Conclusion： The COL1A1/PDGFB fusion gene is a highly specific and sensitive marker in the diagnosis of DFSP. CD34 is a suitable marker for DFSP.

关 键 词：隆突性皮肤纤维肉瘤 免疫组织化学 FISH COL1A1/PDGFB融合基因 

分 类 号：R739.5[医药卫生—肿瘤]