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 of epithelioid inflammatory myofibroblastic sarcoma in children
乔一丹 1陶菁 1何乐建2
作者信息
- 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
- 折叠
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.
Abstract
Purpose To investigate the clinicopathological and molecular genetic characteristics of epithelioid inflammatory myofibroblastic sarcoma(EIMS)in children.Methods Clini-cal data of 7 cases of EIMS in children was collected,the ex-pression 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 sequen-cing.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.Im-aging 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 cy-toplasm with small or inconspicuous nucleoli,ganglion cell-like cells was unconspicuous.There were different cell atypia,hy-perplasia,sparseness or both of background collagen.The main inflammatory cells were lymphocytes with scattered neutrophils,and few plasma cells.Immunohistochemistry,tumor cells ex-pressed ALK,CD30,desmin,SMA,and CK,Ki67 were ex-pressed in tumor cells(3％-40％).ALK split probes were positive in 4 cases,and RANBP2-ALK fusion was found in 3 ca-ses 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 ra-diotherapy).During the follow-up of 1-60 months,2 cases died,1 case recurred and 4 cases survived without tumor.Con-clusion 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 detec-tion 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Key words
epithelioid inflammatory myofibroblastic sarcoma/children/ALK/immunohistochemistry引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据