Wang Dandan, Zhang Fanhui, Feng Wanli, Pan Jiarong, Yuan Tianming
Department of Neonatology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Laboratory for Diagnosis and Therapy of Neonatal Diseases of Zhejiang Province, Hangzhou, China.
Front Oncol. 2023 Jul 27;13:1206833. doi: 10.3389/fonc.2023.1206833. eCollection 2023.
Infantile fibrosarcoma (IFS) is a rare tumor in childhood characterized by a single, localized, painless mass that grows rapidly but has a relatively indolent biological behavior and a favorable prognosis. Eighty-five percent of infantile fibrosarcomas are associated with t (12;15) (p13;25) chromosomal translocation resulting in ETV6-NTRK3 gene fusion, which provides the target for targeted therapy. Here, we report a case of IFS in a newborn with a mass in the left lower extremity confirmed by imaging, histopathological examination, tissue FISH testing, and high-throughput sequencing to detect gene rearrangement. Based on gene fusion targeted drug testing results, the patient was treated with standard doses of larotrectinib, resulting in significant mass shrinkage with no adverse effects, demonstrating the treatment effect of targeted therapy. This case provides a reference for using larotrectinib in newborns with IFS.
婴儿纤维肉瘤(IFS)是儿童期一种罕见肿瘤,其特征为单个、局限性、无痛性肿块,生长迅速,但生物学行为相对惰性,预后良好。85%的婴儿纤维肉瘤与t(12;15)(p13;25)染色体易位相关,导致ETV6-NTRK3基因融合,这为靶向治疗提供了靶点。在此,我们报告1例新生儿IFS,其左下肢肿块经影像学、组织病理学检查、组织荧光原位杂交检测及高通量测序以检测基因重排得以确诊。基于基因融合靶向药物检测结果,该患者接受标准剂量的拉罗替尼治疗,肿块显著缩小且无不良反应,证实了靶向治疗的效果。该病例为拉罗替尼用于新生儿IFS提供了参考。