Abstract:
Background Congenital/infantile fibrosarcoma is a rare soft tissue tumor presented in early age of life. It should be considered in the differential diagnosis of the large soft tissue masses especially in the extremities at the age of infancy. These tumors frequently are misdiagnosed at birth as hemangioma. Histologically, they can resemble their adult counterparts and they are characterized by the chromosomal translocation t(12;15) (p13;q25) resulting in the ETV6-NTRK3 gene fusion. Objective A retrospective review of the MRI features of histopathology-proven congenital/infantile fibrosarcoma provides our own institutional experience and supports the limited radiology literature written about this disease. Material and method The list of our patients is obtained after reviewing our radiology and pathology database in the period between June 1st, 2007 and May 31st, 2017 (10 years) at King Faisal Specialist Hospital & Research Center, Riyadh. Phrases used to search in our MRI examinations database are: congenital infantile fibrosarcoma, infantile fibrosarcoma, juvenile fibrosarcoma, soft tissue sarcoma, malignant soft tissue mass, sarcomatous soft tissue mass, fibrosarcoma, spindle cell sarcoma, myomatous sarcoma. Result In our database and picture archiving and communication system (PACS) during the period of the study, the word (fibrosarcoma) was mentioned in the radiology report of 182 patients. Only four cases were histopathologically proven to be a congenital/infantile fibrosarcoma and had completed their own MR exams - three of them were primary/new cases, males with an age range between 0 days and 5 months (median age: 5 months). The fourth case was a female with a history of 1st presentation at the age of one month and proved by histopathology examination but there was no available imaging at that time; however, tumor recurrence in the same patient was at the age of 4 years with available MR imaging and pathology sample. Conclusion Congenital infantile fibrosarcoma is a rare entity that has no specific MRI findings. However, it should be always considered as part of the differential diagnosis of congenital soft tissue masses with aggressive behavior.
摘要:
背景先天性/婴儿纤维肉瘤是一种罕见的软组织肿瘤,在生命早期出现。在大型软组织肿块的鉴别诊断中,尤其是在婴儿期的四肢中,应考虑到这一点。这些肿瘤在出生时经常被误诊为血管瘤。组织学上,它们可以类似于它们的成年对应物,并且它们的特征在于导致ETV6-NTRK3基因融合的染色体易位t(12;15)(p13;q25)。目的回顾性回顾经组织病理学证实的先天性/婴儿纤维肉瘤的MRI特征,提供了我们自己的机构经验,并支持有关该疾病的有限放射学文献。材料和方法我们的患者名单是在6月1日期间回顾我们的放射学和病理学数据库后获得的,2007年5月31日,2017年(10年)在费萨尔国王专科医院和研究中心,利雅得.在我们的MRI检查数据库中用于搜索的短语是:先天性婴儿纤维肉瘤,婴儿纤维肉瘤,幼年纤维肉瘤,软组织肉瘤,恶性软组织肿块,肉瘤软组织肿块,纤维肉瘤,梭形细胞肉瘤,肌瘤肉瘤.结果在研究期间,在我们的数据库和图片存档和通信系统(PACS)中,182例患者的放射学报告中提到了这个词(纤维肉瘤).只有4例经组织病理学证实为先天性/婴儿纤维肉瘤,并完成了自己的MR检查-其中3例是原发性/新发病例。年龄在0天至5个月之间的男性(中位年龄:5个月)。第四例是一名女性,在一个月大时有第一次出现病史,并经组织病理学检查证实,但当时没有可用的影像学检查;然而,同一患者的肿瘤复发年龄为4岁,有MR成像和病理样本.结论先天性婴儿纤维肉瘤是一种少见的无特异性MRI表现。然而,应始终将其视为具有攻击行为的先天性软组织肿块的鉴别诊断的一部分。