Nagasubramanian Ramamoorthy, Wei Julie, Gordon Paul, Rastatter Jeff C, Cox Michael C, Pappo Alberto
Nemours Children's Hospital, Orlando, Florida.
Department of Otolaryngology - Head and Neck Surgery, Northwestern University Feinberg School of Medicine, Chicago, Illinois.
Pediatr Blood Cancer. 2016 Aug;63(8):1468-70. doi: 10.1002/pbc.26026. Epub 2016 Apr 19.
Infantile fibrosarcoma (IFS) is a rare pediatric cancer typically presenting in the first 2 years of life. Surgical resection is usually curative and chemotherapy is active against gross residual disease. However, when recurrences occur, therapeutic options are limited. We report a case of refractory IFS with constitutive activation of the tropomyosin-related kinase (TRK) signaling pathway from an ETS variant gene 6-neurotrophin 3 receptor gene (ETV6-NTRK3) gene fusion. The patient enrolled in a pediatric Phase 1 trial of LOXO-101, an experimental, highly selective inhibitor of TRK. The patient experienced a rapid, radiographic response, demonstrating the potential for LOXO-101 to provide benefit for IFS harboring NTRK gene fusions.
婴儿纤维肉瘤（IFS）是一种罕见的儿科癌症，通常在生命的头两年出现。手术切除通常可治愈，化疗对肉眼可见的残留病灶有效。然而，当复发发生时，治疗选择有限。我们报告了一例难治性IFS病例，其原肌球蛋白相关激酶（TRK）信号通路因ETS变异基因6-神经营养因子3受体基因（ETV6-NTRK3）基因融合而组成性激活。该患者参加了一项儿科1期试验，试验药物为LOXO-101，这是一种实验性的、高选择性的TRK抑制剂。患者出现了快速的影像学反应，证明了LOXO-101对携带NTRK基因融合的IFS患者可能有益。
