PDF(Pubmed)
Abstract：
Spindle cell sarcoma with KIAA1549-BRAF fusion is a type of childhood sarcoma that closely resembles infantile fibrosarcoma by morphologic criteria and harbors molecular alteration other than the ETV6-NTRK3 fusion gene. This neoplasm was diagnostically challenging without molecular tests, including next-generation sequencing. The discovery of BRAF translocation in this tumor contributes to the promise of the clinical implication of selecting new therapeutic options for the treatment of progressive diseases that are refractory to conventional chemotherapy. Here we present the case of a three-year-old girl who was diagnosed with spindle cell sarcoma with KIAA1549-BRAF fusion gene and had a favorable outcome three years after surgery.
摘要：
具有KIAA1549-BRAF融合的梭形细胞肉瘤是一种儿童肉瘤，通过形态学标准与婴儿纤维肉瘤非常相似，并且具有ETV6-NTRK3融合基因以外的分子改变。如果没有分子测试，这种肿瘤在诊断上具有挑战性，包括下一代测序。在该肿瘤中BRAF易位的发现有助于选择新的治疗方案以治疗常规化疗难以治疗的进行性疾病的临床意义。在这里，我们介绍了一个三岁女孩的病例，该女孩被诊断患有带有KIAA1549-BRAF融合基因的梭形细胞肉瘤，并在手术三年后获得了良好的结果。
