Objective: To analyze the clinicopathological features, immunohistochemical (IHC) phentotype,diagnosis and differential diagnosis of infantile/congenital fibrosarcoma (IFS/CFS) with unusual histological features. Methods: Five IFS/CFS at Children's Hospital of Fudan University from March 2014 to July 2018 were analyzed for their diagnosis and differential diagnosis. Results: Two cases were males, three cases were females. The clinical manifestation of IFS/CFS was a rapidly-growing and painless mass. There were no specific radiologic features. Histologically, the tumor cells are arranged in intersecting or sheet-like patterns. There were focal hemangioma-like areas in four cases. There were also focal areas of primitive asteroid, short-spindled, and oval tumor cells in three cases. IHC study showed the tumor cells diffusely expressed TLE1(2/5), Vimentin(5/5), and WT1(3/5), in a cytoplastic pattern; they focally expressed CD34(3/5), CD31(3/5), and α-SMA(2/5). Fluorescence in situ hybridization (FISH) detected break-apart positivity of ETV6 gene. Conclusions: Hemangioma-like pattern, myxoid area, and TLE1 expression is very rare in IFS/CFS. Detection of ETV6 gene break-apart by FISH is very helpful in the diagnosis and differential diagnosis of IFS/CFS.
目的: 探讨具有少见组织学特征的婴儿型/先天性纤维肉瘤(infantile/congenital fibrosarcoma,IFS/CFS)临床病理特征、免疫表型、诊断及鉴别诊断。 方法: 收集复旦大学附属儿科医院2014年3月至2018年7月诊断的5例IFS/CFS,对其临床、影像学、组织学、免疫组织化学、分子遗传学特征及预后进行分析。 结果: 患儿男性2例,女性3例。IFS/CFS临床上多表现为迅速生长的无痛性肿块;IFS/CFS的影像学检查不具有特异性;组织学检查示5例均可见典型的IFS/CFS镜下特征,即短梭形肿瘤细胞呈实性束状交叉排列或鱼骨状排列,4例还可见到较多血管瘤样区域;3例可见较多区域示原始星芒状、短梭形、卵圆形肿瘤细胞弥漫片状分布,间质呈黏液样;免疫组织化学示肿瘤细胞弥漫较强表达TLE1(2/5)、波形蛋白(5/5)和WT1(3/5,表达于细胞质);局灶性表达CD34(3/5)、CD31(3/5)和α-平滑肌肌动蛋白(SMA,2/5);荧光原位杂交(FISH)均可检测到ETV6基因的断裂重排。 结论: 伴有血管瘤样或黏液样特征的组织学形态及免疫组织化学TLE1阳性表达在IFS/CFS中较罕见,ETV6基因断裂重排检测有助于伴有不典型形态特征和免疫组织化学表现的IFS/CFS的诊断和鉴别诊断。.
Keywords: Diagnosis, differential; Fibrosarcoma; Infant.