Intrathoracic Synovial Sarcoma with BRAF V600E Mutation | Oncotarget



July 17, 2023

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  • Oncotarget published this case report on July 7, 2023 in Volume 14, entitled, “Intrathoracic synovial sarcoma with BRAF V600E mutation” by researchers from the 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; Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milano, Italy; Department of Radiology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy. DOI - Correspondence to - Giuseppe Maria Milano - Abstract 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 less than 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. Sign up for free Altmetric alerts about this article - Subscribe for free publication alerts from Oncotarget - Keywords - synovial sarcoma, next-generation sequencing, BRAF V600E mutation, targeted therapy About Oncotarget Oncotarget (a primarily oncology-focused, peer-reviewed, open access journal) aims to maximize research impact through insightful peer-review; eliminate borders between specialties by linking different fields of oncology, cancer research and biomedical sciences; and foster application of basic and clinical science. To learn more about Oncotarget, please visit and connect with us: SoundCloud - Facebook - Twitter - Instagram - YouTube - LinkedIn - Pinterest - Reddit - Media Contact MEDIA@IMPACTJOURNALS.COM 18009220957

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