儿童上皮样炎性肌纤维母细胞肉瘤7例临床病理和分子遗传学特征  

Clinicopathological and molecular genetic characteristics of 7 cases ofepithelioid inflammatory myofibroblastic sarcoma in children

作　　者：乔一丹 陶菁 何乐建 QIAO Yidan;TAO Jing;HE Lejian(Department of Pathology,Henan Children’s Hospital/Zhengzhou Children’s Hospital/Children’s Hospital Affiliated to Zhengzhou University,Zhengzhou 450018,China;Department of Pathology,National Center for Children’s Health/Beijing Children’s Hospital,Capital Medical University,Beijing 100045,China)

机构地区：[1]河南省儿童医院/郑州儿童医院/郑州大学附属儿童医院病理科,郑州450018 [2]国家儿童医学中心/首都医科大学附属北京儿童医院病理科,北京100045

出　　处：《临床与实验病理学杂志》2024年第7期710-713,共4页Chinese Journal of Clinical and Experimental Pathology

摘　　要：目的 探讨儿童上皮样炎性肌纤维母细胞肉瘤(epithelioid inflammatory myofibroblastic sarcoma, EIMS)临床病理学特点与分子遗传学特征。方法 收集7例儿童EIMS临床资料,采用免疫组化EnVision法检测ALK、CD30、desmin、SMA、CK和Ki67等表达,应用FISH法检测ALK基因断裂重排,运用NGS测序检测ALK基因融合,分析其临床病理特征并复习相关文献。结果 患儿年龄6个月~12岁;腹部3例,肠壁1例,声带1例,胸膜1例,上颌窦1例;多发6例,单发1例;影像学提示均为软组织影。肿瘤细胞形态多样,为小圆形、梭形或较大圆形,胞质丰富,核仁小或不明显,节细胞样细胞不明显,细胞异型性不一,背景胶原增生、稀疏或两者皆有,炎症细胞以淋巴细胞为主,散在中性粒细胞,浆细胞少见。免疫表型:肿瘤细胞ALK、CD30、desmin、SMA和CK均阳性,Ki67增殖指数3%~40%。4例ALK分离探针阳性,3例NGS结果显示RANBP2-ALK融合。7例均行手术治疗,5例术后进一步治疗(3例行化疗与靶向药治疗,1例行放、化疗,1例行放疗)。随访1~60个月,2例死亡,1例复发,4例无瘤生存。结论 儿童EIMS发病年龄广泛,常见于腹腔网膜,无特殊临床表现和影像学,大部分为多发,肿瘤细胞形态多样,联合免疫组化、FISH与NGS测序有助于诊断。Purpose To investigate the clinicopathological and molecular genetic characteristics of epithelioid inflammatory myofibroblastic sarcoma(EIMS)in children.Methods Clinical data of 7 cases of EIMS in children was collected,the expression of ALK,CD30,desmin,SMA,CK,Ki67,etc.was detected with immunohistochemistry EnVision method,ALK gene disruption and rearrangement was detected using FISH method,and ALK gene fusion was examined by NGS sequencing.Clinical and pathological characteristics was analyzed and relevant literatures were reviewed.Results Children aged from 6 months to 12 years.There were 3 cases in abdomen,1 case in intestinal wall,1 case in vocal cord,1 case in pleura and 1 case in maxillary sinus.Multiple in 6 cases and single in 1 case.Imaging showed soft tissue shadow.Pathological examination showed that tumor cells were various in shape,including small round,spindle-shaped or larger round.There were abundant cytoplasm with small or inconspicuous nucleoli,ganglion cell-like cells was unconspicuous.There were different cell atypia,hyperplasia,sparseness or both of background collagen.The main inflammatory cells were lymphocytes with scattered neutrophils,and few plasma cells.Immunohistochemistry,tumor cells expressed ALK,CD30,desmin,SMA,and CK,Ki67 were expressed in tumor cells(3%-40%).ALK split probes were positive in 4 cases,and RANBP2-ALK fusion was found in 3 cases by next generation sequencing.All 7 cases were treated by surgery,5 cases underwent further postoperative treatment(3 cases received chemotherapy and targeted drug therapy,1 case received radiotherapy and chemotherapy,and 1 case received radiotherapy).During the follow-up of 1-60 months,2 cases died,1 case recurred and 4 cases survived without tumor.Conclusion EIMS in children has a wide range of onset ages,and is common in abdominal omentum.The clinical manifestations and imaging are not special,most of them are multiple,and the tumor cells are diverse.Immunohistochemical and FISH detection are helpful for diagnosis of EIMS.

关 键 词：上皮样炎性肌纤维母细胞肉瘤 儿童 ALK 免疫组织化学 

分 类 号：R738.6[医药卫生—肿瘤]