EWSR1-SMAD3阳性纤维母细胞肿瘤临床病理学分析  

EWSR1-SMAD3 positive fibroblastic tumor: a clinicopathological analysis

作　　者：苏海燕 赵露 季钢 姚茜岚 柏乾明 周晓燕 王坚 Su Haiyan;Zhao Lu;Ji Gang;Yao Qianlan;Bai Qianming;Zhou Xiaoyan;Wang Jian(Department of Pathology,Zhangzhou Municipal Hospital of Fujian Medical University,Zhangzhou 363000,China;Department of Pathology,Fudan University,Shanghai Cancer Center,Department of Oncology,Shanghai Medical College,Fudan University,Shanghai 200032,China)

机构地区：[1]福建医科大学附属漳州市医院病理科,漳州363000 [2]复旦大学附属肿瘤医院病理科复旦大学上海医学院肿瘤学系,上海200032

出　　处：《中华病理学杂志》2023年第1期19-24,共6页Chinese Journal of Pathology

基　　金：上海市科学技术委员会科研计划项目(19MC1911000);上海市临床重点专科建设项目-病理科(shslczdzk01301)。

摘　　要：目的探讨EWSR1-SMAD3阳性纤维母细胞肿瘤(EWSR1-SMAD3-postive fibroblastic tumor, ESFT)的临床病理学特征、免疫表型、分子遗传学改变及鉴别诊断。方法回顾性分析复旦大学附属肿瘤医院病理科2018—2021年会诊的3例ESFT, 总结其临床资料、组织病理学特征、免疫表型及分子改变, 并复习相关文献。结果例1、2为男性, 例3为女性, 年龄分别为24、12和36岁。3例肿瘤均发生于足部皮下。术前病程6个月至2年, 表现为局部肿块隆起或缓慢性生长的结节, 1例伴有疼痛。肿瘤最大径0.1~1.6 cm(平均1.0 cm)。镜下观察, 肿瘤位于皮下, 呈结节状或丛状, 例1示皮下脂肪组织浸润。肿瘤主要由条束状排列的梭形细胞组成, 瘤细胞形态温和, 染色质均匀细腻, 未见核分裂象。3例均伴有明显的间质胶原化, 其中例2显示区带性结构。例1复发病灶及例2于局部区域可见细腻的点状钙化。免疫组织化学标记显示, 瘤细胞弥漫性表达ERG, 但不表达CD31和CD34, Ki-67阳性指数<2%。2例荧光原位杂交检测显示EWSR1基因重排, 3例二代测序检测均显示有EWSR1-SMAD3融合基因。随访3~60个月, 1例于24个月后局部复发。结论 ESFT是一种好发于足部的良性纤维性肿瘤, 以特征性表达ERG和具有EWSR1-SMAD3融合基因为特征, 少数病例切除不净可复发。熟悉其临床病理性特点和分子表型有助于与肢端其他梭形细胞肿瘤相鉴别。Objective To investigate the clinicopathological features,immunophenotypes and molecular genetics of EWSR1-SMAD3 positive fibroblastic tumor(ESFT)with an emphasis on differential diagnosis.Methods The clinicopathological data,immunohistochemical profiles and molecular profiles of 3 ESFT cases diagnosed at the Department of Pathology,Fudan University Shanghai Cancer Center from 2018 to 2021were analyzed.The related literature was also reviewed.Results There were two males and one female.The patients were 24,12 and 36 years old,respectively.All three tumors occurred in the subcutis of the foot with the disease duration of 6 months to 2 years.The tumors were presented with a slowly growing mass or nodule,accompanied with pain in 1 patient.The tumors ranged in size from 0.1 to 1.6 cm(mean,1.0 cm).Microscopically,the tumors were located in the subcutaneous tissue with a nodular or plexiform growth pattern.They were composed of cellular fascicles of bland spindle cells with elongated nuclei and fine chromatin.One of the tumors infiltrated into adjacent adipose tissue.There was no nuclear atypia or mitotic activities.All three tumors showed prominent stromal hyalinization with zonal pattern present in one case.Focal punctate calcification was noted in two cases.The immunohistochemical studies showed that tumor cells were diffusely positive for ERG and negative for CD31 and CD34,with Ki-67 index less than 2%.Fluorescence in situ hybridization on the two tested cases identified EWSR1 gene rearrangement.The next generation sequencing analysis demonstrated EWSR1-SMAD3 fusion in all three cases.During the follow up,one patient developed local recurrence 24 months after the surgery.Conclusions ESFT is a benign fibroblastic neoplasm and has a predilection for the foot,characterized by ERG immunoreactivity and EWSR1-SMAD3 fusion.Local recurrence might occur when incompletely excised.Familiarity with its clinicopathological features is helpful in distinguishing it from other spindle cell neoplasms that tend to occur at acral sit

关 键 词：软组织肿瘤 基因重排 基因融合 纤维母细胞肿瘤 

分 类 号：R738.6[医药卫生—肿瘤]