NAB2-STAT6融合基因及STAT6在眼眶孤立性纤维性肿瘤中的表达及意义  

Expression and significance of NAB2-STAT6 fusion gene and STAT6 in orbital solitary fibrous tumors

作　　者：刘辉[1] 任雨洁 杨菁茹 李元朋 蔡凤梅[1] 钱薇[1] 夏益敏 王卉芳[1] LIU Hui;REN Yu-jie;YANG Jing-ru;LI Yuan-peng;CAI Feng-mei;QIAN Wei;XIA Yi-min;WANG Hui-fang(Department of Pathology, Xi'an NO.4 Hospital, Shaanxi Province, Xi'an 710004, China)

机构地区：[1]陕西省西安市第四医院病理科

出　　处：《临床与实验病理学杂志》2019年第9期1060-1064,共5页Chinese Journal of Clinical and Experimental Pathology

基　　金：西安市第四医院2018年科研孵化基金(FZ-16)

摘　　要：目的探讨NAB2-STAT6融合基因和STAT6在眼眶孤立性纤维性肿瘤(solitary fibrous tumor,SFT)中的表达及意义。方法采用qRT-PCR和免疫组化EnVision法检测19例眼眶SFT、16例眼眶神经纤维瘤、14例眼眶神经鞘瘤及8例眼眶纤维组织细胞瘤中4种NAB2-STAT6融合基因、STAT6、CD34和CD99的表达,并探讨其临床病理学意义。结果19例眼眶SFT中16例完成qRT-PCR检测,其中10例检测出NAB2 exon6-STAT6 exon17融合基因,阳性率为62.5%,未检测出其他3种融合形式,在恶性及复发病例中NAB2 exon6-STAT6 exon17融合基因具有更高的检出率;STAT6在眼眶SFT中的阳性率为100%(19/19),在8例眼眶纤维组织细胞瘤中3例呈弱阳性,在眼眶神经纤维瘤和神经鞘瘤中均呈阴性,CD34和CD99在眼眶SFT中的阳性率分别为84.2%和63.2%。结论眼眶SFT具有部位的特殊性,其中存在较高的NAB2-STAT6融合基因表达率,以NAB2 exon6-STAT6 exon17融合基因为主,在恶性及复发性SFT中表达率更高,免疫组化标记STAT6具有很高的灵敏度与特异性,可作为较理想的免疫组化指标。Purpose To investigate the expression and significance of NAB2-STAT6 fusion gene and STAT6 in orbital solitary fibrous tumor (SFT). Methods qRT-PCR and immunohistochemistry were used to detect the expression of 4 NAB2-STAT6 fusion genes, STAT6, CD34 and CD99 in 19 cases of orbital SFT, 16 cases of orbital neurofibroma, 14 cases of orbital schwannoma and 8 cases of orbital fibrous histiocytoma. Results qRT-PCR detection was completed in 16 of the 19 patients with orbital SFT, of which 10 cases detected the NAB2 exon6-STAT6 exon17 fusion gene with a positive rate of 62.5%, no other 3 fusion forms were detected. The NAB2 exon6-STAT6 exon17 fusion gene had a higher detection rate in malignant and relapsed cases. The positive expression rate of STAT6 in orbital SFT was 100%(19/19). In 8 case of orbital fobours histiocytoma, 3 cases were weakly positive, and no expression was observed in orbital neurofrbroma and schwannoma. The positive expression rates of CD34 and CD99 in orbital SFT were 84.2% and 63.2%, respectively. Conclusions The orbital SFT has the specificity of the site. There is a higher expression rate of NAB2-STAT6 fusion gene, mainly NAB2 exon6-STAT6 exon17 fusion gene, and the expression rate is higher in malignant and recurrent SFT. The immunohistochemical STAT6 has very high sensitivity and specificity and can be used as an ideal immunohistochemical marker.

关 键 词：孤立性纤维性肿瘤 NAB2-STAT6 STAT6 眼眶 

分 类 号：R739.7[医药卫生—肿瘤]