摘要
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分类
医药卫生
