滑膜肉瘤（SS）是一种罕见且侵袭性的疾病，占所有软组织肉瘤的5%-10%。尽管可以发生在任何年龄段，但通常影响年轻成年人和儿童，在生命的第四个十年达到高峰。在超过95%的病例中，致癌驱动因子是X染色体和18染色体之间的易位，导致SS18::SSX融合致癌基因的形成。早期和准确的诊断往往是一个挑战；在怀疑患有滑膜肉瘤时，将患者转诊到专科中心进行诊断，并由多学科团队进行治疗管理，能够实现最佳疗效。手术联合放疗和/或化疗可以在局部病变中起到有效的作用，这在儿童中尤其如此。然而，晚期阶段的预后较差，治疗策略在很大程度上依赖传统的细胞毒性化疗药物。因此，对于晚期疾病，迫切需要新的有效治疗策略。对疾病病理学及其分子基础的进一步了解为正在临床试验中研究的新型靶向药物和免疫疗法铺平了道路。本综述提供了儿童和成人滑膜肉瘤的流行病学和特征概述，以及从诊断到治疗的患者旅程。当前和未来的治疗策略，尤其是免疫疗法改善临床预后的潜力也被总结。版权所有©2023作者。由Elsevier有限公司发表。保留所有权利。

Synovial sarcoma (SS) is a rare and aggressive disease that accounts for 5%-10% of all soft tissue sarcomas. Although it can occur at any age, it typically affects younger adults and children, with a peak incidence in the fourth decade of life. In >95% of cases, the oncogenic driver is a translocation between chromosomes X and 18 that leads to the formation of the SS18::SSX fusion oncogenes. Early and accurate diagnosis is often a challenge; optimal outcomes are achieved by referral to a specialist center for diagnosis and management by a multidisciplinary team as soon as SS is suspected. Surgery with or without radiotherapy and/or chemotherapy can be effective in localized disease, especially in children. However, the prognosis in the advanced stages is poor, with treatment strategies that have relied heavily on traditional cytotoxic chemotherapies. Therefore, there is an unmet need for novel effective management strategies for advanced disease. An improved understanding of disease pathology and its molecular basis has paved the way for novel targeted agents and immunotherapies that are being investigated in clinical trials. This review provides an overview of the epidemiology and characteristics of SS in children and adults, as well as the patient journey from diagnosis to treatment. Current and future management strategies, focusing particularly on the potential of immunotherapies to improve clinical outcomes, are also summarized.Copyright © 2023 The Author(s). Published by Elsevier Ltd.. All rights reserved.