BRAF (V600E) Metastatic Synovial Sarcoma Treated with BRAF & MEK Inhibitors Achieves Complete Response. A Case Report & Literature Review

BRAF (V600E) 转移性滑膜肉瘤经 BRAF 和 MEK 抑制剂治疗后达到完全缓解:病例报告及文献综述

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Abstract

BACKGROUND: -Synovial sarcoma is a rare soft tissue sarcoma. Treatment of synovial sarcoma includes surgery, radiation, pazopanib, and chemotherapy. Targeted therapies, such as B-Raf proto-oncogene, serine/threonine kinase (BRAF) inhibitors, are emerging as a potential treatment option. We describe the sixth case of a BRAF(V600E) synovial sarcoma, the first extra-thoracic case. This case is the first to show a complete pathological response to BRAF & mitogen-activated protein kinase kinase (MEK) inhibitors. CASE DESCRIPTION: -We treated a 22-year-old male with a left groin BRAF(V600E) synovial sarcoma with doxorubicin, Ifosphamide & Sodium 2-Mercaptoethanesulfonate. When we identified BRAF(V600E) in the tumor, the BRAF(V600E) and MEK inhibitors (dabrafenib & trametinib) were initiated, followed by surgery, with a complete pathological response. Nine months after the surgery, a local recurrence prompted the resumption of dabrafenib & trametinib followed by radiotherapy, resulting in complete radiological response and the development of hemophagocytic lymphohistiocytosis treated with corticosteroids with resolution of symptoms. CONCLUSION: -Panel sequencing of synovial sarcoma can identify targetable mutations. Treatment of BRAF(V600E) synovial sarcoma with dabrafenib & trametinib can lead to complete pathological response and prolonged radiological response, as well as the rare adverse event of hemophagocytic lymphohistiocytosis. Prospective clinical trials are needed to evaluate the efficacy and safety of BRAF(V600E) & MEK inhibitors as a therapeutic approach in BRAF(V600E) synovial sarcoma.

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