儿童血管瘤样纤维组织细胞瘤临床病理特征及诊治分析

The management of angiomatoid fibrous histiocytoma in children:a clinicopathologic analysis

目的探讨儿童血管瘤样纤维组织细胞瘤(AFH)的临床特征、病理特征、免疫表型、分子遗传学特征、诊断、鉴别诊断、治疗及预后。方法收集2012年8月至2022年8月复旦大学附属儿科医院收治的7例AFH患儿的临床资料,对7例AFH患者的临床、影像学、组织学、免疫组化、分子遗传学特征及预后进行分析,探讨其临床特征、病理特征、免疫表型、分子遗传学特征、诊断、鉴别诊断、治疗及预后。结果7例患儿中,男女比例为3∶4;发病年龄1~10岁,中位年龄7岁;肿瘤最大径1.2~5.0 cm,中位最大径1.5 cm;肿瘤均位于躯干或四肢。MRI示病灶T_(1)WI为等低信号,T_(2)WI为高信号,增强后病灶实性区明显强化;组织形态为肿瘤周边可见纤维性假包膜,包膜内见慢性炎症细胞浸润带,炎症细胞常形成套样结构,短梭形、卵圆形肿瘤细胞呈结节状或不规则片状分布,肿瘤内含有多灶性的出血性囊腔,无内皮细胞内衬,为假血管性腔隙;免疫组化示肿瘤细胞表达上皮细胞膜抗原(5/7)、簇分化抗原(CD)99(4/7)、结蛋白(4/7)、CD68(3/7);荧光原位杂交可检测到尤文氏肉瘤断点区域1(EWSR1)基因的断裂重排;7例均接受手术切除,术后随访17~112个月均未发现复发或转移。结论儿童AFH临床表现不具有特异性,AFH具有偏惰性的生物学行为及独特的组织学形态,EWSR1基因断裂重排检测有助于诊断及鉴别诊断。

Objective To analyze the clinicopathological features,immunophenotype,molecular genetic characteristics,diagnosis,differential diagnosis,treatment and prognosis of angiomatoid fibrous histiocytoma(AFH)in children.Methods The clinical data of 7 children with AFH admitted to the Affiliated Pediatric Hospital of Fudan University from August 2012 to August 2022 were retrospectively reviewed.The clinical and pathological features,immunophenotype,molecular genetic characteristics,diagnosis,differential diagnosis,treatment and prognosis of patients were analyzed.Results There were 3 boys and 4 girls with a median age of 7 years(1-10 years).The maximum diameter of the tumor was1.2-5.0 cm with a median of 1.5 cm.The tumors were located in the trunk or limbs.MRI showed that the lesions were isohypointense on T_(1)WI and hyperintense on T_(2)WI,and the solid area of the tumour was significantly enhanced.In histopathological examination the fibrous pseudocapsule was observed around the tumor;there was chronic inflammatory cell infiltration zone in the capsule,inflammatory cells often form a nested structure;short spindle and oval tumor cells were distributed in nodular or irregular flakes.The tumor contained pseudovascular lacunae presenting multifocal hemorrhagic cavities without endothelial cell lining.Immunohistochemistry showed that the tumor cells expressed epithelial membrane antigen(5/7),cluster of differentiation(CD)99(4/7),Desmin(4/7)and CD68(3/7).Fluorescence in situ hybridization detected the disruption and rearrangement of EWSR1 gene.All 7 patients underwent surgical resection,and none of them had recurrence or metastasis at 17-112 months of post-operative follow-up.Conclusion The clinical presentation of AFH in children is non-specific,and it has an indolent biological behavior and unique histological morphology.The detection of EWSR1 gene rearrangement is helpful for its diagnosis and differential diagnosis.