See Wing Shan Queenie, Cheuk Daniel Ka Leung, To Ka Fai, Ip Philip Pun Ching, Chiang Alan Kwok Shing, Ha Shau Yin, Chan Godfrey Chi Fung
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, University of Hong Kong, Hong Kong, Hong Kong.
Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, Chinese University of Hong Kong, Hong Kong, Hong Kong.
Pediatr Int. 2017 Jun;59(6):733-736. doi: 10.1111/ped.13252. Epub 2017 Apr 24.
A total of 16 cases of congenital fibrosarcoma have been reported from 1975 to March 2015. Five of the 16 had abnormal fusion between erythroblast transformation specific translocation variant 6 and neurotrophin recptor gene neurotrophic tyrosine kinase, receptor, type 3 (ETV6-NTRK3); in another five out of 16 this was absent, and six were not tested. All were managed by surgical resection but none involved metastasis. Herein we report the case of a newborn baby girl with congenital fibrosarcoma negative for ETV6-NTRK3 gene fusion, who presented with ileal perforation and positive resection margin. She had rapid recurrence with lymph node metastasis treated with postoperative chemotherapy. There was no further recurrence at >3 years of follow up.
1975年至2015年3月期间，共报告了16例先天性纤维肉瘤病例。16例中有5例成红细胞转化特异性易位变异体6与神经营养因子受体基因神经营养性酪氨酸激酶受体3型（ETV6-NTRK3）之间存在异常融合；16例中的另外5例不存在这种情况，6例未进行检测。所有病例均通过手术切除进行治疗，但均未发生转移。在此，我们报告一例ETV6-NTRK3基因融合阴性的先天性纤维肉瘤新生女婴病例，该患儿出现回肠穿孔且手术切缘阳性。她术后接受化疗，出现快速复发并伴有淋巴结转移。随访3年以上无进一步复发。
