原发于结肠的梭形细胞瘤病理及基因突变特点(附1例分析)  

Pathological characteristics and gene mutations of spindle cell tumors originating in colon(one case analysis)

作　　者：刘芮菡 赵娜 薛金慧 王宁 赵志华 张全武 LIU Ruihan;ZHAO Na;XUE Jinhui;WANG Ning;ZHAO Zhihua;ZHANG Quanwu(Zhengzhou Central Hospital Affiliated to Zhengzhou University,Zhengzhou 450007,China)

机构地区：[1]郑州大学附属郑州中心医院,河南郑州450007 [2]郑州大学第一附属医院

出　　处：《山东医药》2021年第6期26-30,共5页Shandong Medical Journal

基　　金：河南省科技攻关计划项目(142102310461)。

摘　　要：目的总结原发于结肠的瘤梭形细胞肿瘤的病理及基因突变特点。方法 1例原发于结肠的梭形细胞瘤患者,分析其病理特点,NTRK荧光原位杂交(FISH)法检测基因突变。结果患者病理可见肿瘤细胞侵及黏膜至浆膜层,无包膜,界不清,肿瘤细胞呈片状或束状排列,血管壁及间质可见玻璃样变性,瘤细胞有疏松区及致密区,局部水肿;高倍镜可见瘤细胞呈短梭形或卵圆形,胞质丰富弱嗜碱性,细胞核呈多边形或椭圆形,可见核仁及核异型性。可见组织坏死及钙化灶,偶见细胞核分裂。瘤组织波形蛋白(Vimentin)、钙结合蛋白(S-100)、跨膜唾液酸糖蛋白(CD34)表达阳性,神经嵴转录因子(SOX-10)表达阴性,Ki-67表达低(约5%)。瘤细胞神经营养性酪氨酸受体激酶2(NTRK2)基因重排。结论原发于结肠的梭形细胞肿瘤组织可共表达S-100、CD34,细胞为无模式生长结构,伴血管壁及基质玻璃样变,瘤细胞存在NTRK2基因重排。ObjectiveTo summarize the pathological characteristics and gene mutations of spindle cell tumors origi-nating in the colon.MethodsOne patient with spindle cell tumor originating in the colon was analyzed for its pathologi-cal characteristics,and gene mutation was detected by NTRK fluorescence in situ hybridization(FISH).ResultsPa-thology of the patient showed that tumor cells invaded from mucosa to serous layer,without capsule,and the boundary wasnot clear.Tumor cells were arranged in sheets or bundles,hyalinized degeneration was observed in vascular wall and stro-ma,and the tumor cells had loose areas and dense areas,with local edema.At high magnification,the tumor cells wereshort fusiform or ovoid,with abundant cytoplasm and weak basophilic cytoplasm.The nuclei were polygonal or elliptic,with nucleoli and nuclear atypia.Tissue necrosis and calcification were observed,and nuclear division was occasionallyobserved.Vimentin,S-100 and CD34 were positive in tumor tissues,SOX-10 was negative,and Ki-67 was low(about5%).There was neurotrophic tyrosine kinase receptor type 2(NTRK2)gene rearrangement in tumor cells.Conclusions S-100 and CD34 can be co-expressed in spindle cell tumors originating from the colon.The cells have no pattern growthstructure,accompanied by vascular wall and matrix hyaline change,and there is NTRK2 gene rearrangement.

关 键 词：软组织肿瘤 梭形细胞瘤 钙结合蛋白 跨膜唾液酸糖蛋白 S-100及CD34蛋白共表达 神经营养性酪氨酸受体激酶2 基因重排 

分 类 号：R738.6[医药卫生—肿瘤]