Department of Pediatric Hematology and Oncology, Gene and Cellular Therapy, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Department of Pathology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.
Oncotarget. 2023 Jul 7;14:703-708. doi: 10.18632/oncotarget.28475.
We report a case of 15-year-old boy with intrathoracic synovial sarcoma who relapsed after standard chemotherapy, surgery and radiotherapy. The molecular analysis of the tumour identified a BRAF V600E mutation at time of progression of relapsed disease under third line systemic treatment. This mutation is commonly seen in melanomas and papillary thyroid cancers, but less prevalent (typically <5%) across a variety of other cancer types. The patient underwent selective BRAF inhibitor Vemurafenib treatment achieving partial response (PR) with a progression free survival (PFS) ratio of 1.6 months and an overall survival of 19 months, alive in continuous PR. This case highlights the role of routinely next generation sequencing (NGS) used to drive treatment choice and to investigate extensively synovial sarcoma tumour for BRAF mutation.
我们报告了一例 15 岁男孩患有胸内滑膜肉瘤，在标准化疗、手术和放疗后复发。肿瘤的分子分析在三线系统治疗进展时发现 BRAF V600E 突变。这种突变在黑色素瘤和甲状腺乳头状癌中很常见，但在其他各种癌症类型中较少见（通常<5%）。该患者接受了选择性 BRAF 抑制剂vemurafenib 治疗，获得部分缓解（PR），无进展生存期（PFS）比为 1.6 个月，总生存期为 19 个月，持续 PR 存活。该病例强调了常规下一代测序（NGS）在驱动治疗选择和广泛研究滑膜肉瘤肿瘤中 BRAF 突变方面的作用。
