28例子宫内膜间质肉瘤免疫表型及分子遗传学特征研究  

Endometrial stromal sarcoma: immunophenotype and genetic characteristics

作　　者：张晓玲[1] 张晓波[2] 王功伟[2] 王颖[2] 刘丽丽[2] 王兴兴 沈丹华[2] ZHANG Xiao-ling;ZHANG Xiao-bo;WANG Gon;WANG Yin;LIU Li-li;WANG Xing-xing;SHEN Danhua(Department of Pathology, Cangzhou Central Hospital;Department of Pathology, Peking University, People＇s Hospital)

机构地区：[1]沧州市中心医院病理科 [2]北京大学人民医院病理科,北京100044

出　　处：《诊断病理学杂志》2018年第5期330-334,共5页Chinese Journal of Diagnostic Pathology

摘　　要：目的总结子宫内膜间质肉瘤(ESS)的病理学特点及免疫表型,并探讨YWHAE-NUTM2A/B(YWHAEFAM22 A/B)融合基因的表达对ESS病理诊断的意义。方法收集病理的ESS病例28例,其中低级别ESS(LGESS)21例、高级别ESS(HG-ESS)7例。采用免疫组织化学法检测雌激素受体(ER)、孕激素受体(PR)、CD10、cyclin D1、desmin和caldesmon蛋白在28例ESS中的表达情况。用荧光原位杂交(FISH)方法分别检测7例HGESS YWHAE-NUTM2/B融合基因的表达。结果 21例LG-ESS的ER、PR、CD10、cyclin D1、desmin和caldesmon阳性表达比例分别为19/21、20/21、21/21、0/21、7/21和13/21。7例HG-ESS的ER、PR、CD10、cyclin D1、desmin和caldesmon阳性表达比例分别为2/7、2/7、5/7、7/7、0/7、1/7。FISH结果:HG-ESS基因融合率(3/7)。结论 LGESS具有特殊的形态学特征,并与子宫内膜间质肉瘤的相关免疫标记均呈阳性表达,HG-ESS在组织形态及免疫组化表达上与LG-ESS具有差异,部分病例呈现特异的YWHAE-NUTM2A/B融合基因,对于诊断疑难病例具有帮助。To summarize the pathological characteristics,immunophenotype of endometrial stromal sarcoma（ ESS） and to explore the significance of YWHAE-NUTM2 A/B fusion gene in ESS. Method 28 cases of ESS were studied,including21 cases of low-grade ESS and 7 cases of high-grade ESS. Immunohistochemical method（ IHC） was used to detect estrogen receptor（ ER） and progesterone receptor（ PR）,CD10,cyclin D1,Desmin and caldesmon expression in 28 cases of ESS.Fluorescence in situ hybridization（ FISH） was used to detect the expression of YWHAE-NUTM2 A/B gene fusion.Results The positive rate of ER,PR,CD10,cyclin D1,Desmin and caldesmon in low-grade ESS was 19/21,20/21,21/21,0/21,7/21,3/21,respectively and the rate in high-grade ESS was 2/7,2/7,5/7,7/7,0/7,1/7. The positive rate of the YWHAE-NUTM2 A/B fusion gene was 3/7. Conclusion low-grade ESS has special morphological characteristics,and is associated with biomarkers of the endometrial stromal sarcoma,high-grade ESS has the similar immunohistochemical characteristics to the low-grade ESS. FISH has a certain significance in the diagonosis of the highgrade ESS.

关 键 词：子宫内膜间质肉瘤 FISH YWHAE-NUTM2A/B基因融合 免疫组化 

分 类 号：R737.3[医药卫生—肿瘤]